Variant report

Variant	esv2756491
Chromosome Location	chr3:195433543-195553184
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1734)
CpG islands
(count:5316)
Chromatin interactive
region (count:102)
LncRNA
region (count:138)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1734 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:195446005-195446042	K562	blood:	n/a	n/a
2	ARID3A	chr3:195548908-195549025	HepG2	liver:	n/a	n/a
3	ARID3A	chr3:195521828-195521896	K562	blood:	n/a	n/a
4	ARID3A	chr3:195530436-195530636	K562	blood:	n/a	n/a
5	ARID3A	chr3:195474928-195475006	K562	blood:	n/a	n/a
6	ARID3A	chr3:195441581-195442525	K562	blood:	n/a	n/a
7	ATF1	chr3:195531177-195532030	K562	blood:	n/a	n/a
8	ATF1	chr3:195441416-195443202	K562	blood:	n/a	n/a
9	ATF1	chr3:195517590-195517626	K562	blood:	n/a	n/a
10	ATF1	chr3:195517896-195518212	K562	blood:	n/a	n/a
11	ATF1	chr3:195527177-195527509	K562	blood:	n/a	n/a
12	ATF2	chr3:195533039-195533753	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF2	chr3:195533001-195533807	H1-hESC	embryonic stem cell:	n/a	n/a
14	ATF2	chr3:195474880-195475200	H1-hESC	embryonic stem cell:	n/a	n/a
15	ATF3	chr3:195464738-195464878	K562	blood:	n/a	n/a
16	ATF3	chr3:195442800-195443285	K562	blood:	n/a	n/a
17	ATF3	chr3:195551099-195551233	K562	blood:	n/a	n/a
18	ATF3	chr3:195454532-195454722	K562	blood:	n/a	n/a
19	ATF3	chr3:195442970-195443138	K562	blood:	n/a	n/a
20	BACH1	chr3:195542293-195542636	H1-hESC	embryonic stem cell:	n/a	n/a
21	BACH1	chr3:195474877-195475110	H1-hESC	embryonic stem cell:	n/a	n/a
22	BACH1	chr3:195512434-195512617	K562	blood:	n/a	n/a
23	BACH1	chr3:195542336-195542613	K562	blood:	n/a	n/a
24	BACH1	chr3:195475701-195476009	K562	blood:	n/a	n/a
25	BATF	chr3:195439741-195440233	GM12878	blood:	n/a	n/a
26	BATF	chr3:195442921-195443189	GM12878	blood:	n/a	chr3:195443054-195443065
27	BATF	chr3:195497787-195498386	GM12878	blood:	n/a	n/a
28	BATF	chr3:195497770-195498379	GM12878	blood:	n/a	n/a
29	BCL11A	chr3:195439700-195440060	GM12878	blood:	n/a	n/a
30	BCL11A	chr3:195440199-195440851	GM12878	blood:	n/a	n/a
31	BCL11A	chr3:195533351-195533564	H1-hESC	embryonic stem cell:	n/a	n/a
32	BCL11A	chr3:195437714-195438042	GM12878	blood:	n/a	n/a
33	BCL11A	chr3:195437342-195437659	GM12878	blood:	n/a	n/a
34	BCL11A	chr3:195533335-195533623	H1-hESC	embryonic stem cell:	n/a	n/a
35	BCL11A	chr3:195497690-195498441	GM12878	blood:	n/a	n/a
36	BCL11A	chr3:195439754-195440667	GM12878	blood:	n/a	n/a
37	BCL11A	chr3:195499133-195499384	GM12878	blood:	n/a	n/a
38	BCL11A	chr3:195497759-195498462	GM12878	blood:	n/a	n/a
39	BCL11A	chr3:195437715-195438153	GM12878	blood:	n/a	n/a
40	BCL3	chr3:195527151-195527346	GM12878	blood:	n/a	n/a
41	BCL3	chr3:195500525-195500735	GM12878	blood:	n/a	n/a
42	BCL3	chr3:195500079-195500441	GM12878	blood:	n/a	n/a
43	BCL3	chr3:195498775-195499280	GM12878	blood:	n/a	n/a
44	BCL3	chr3:195442829-195443172	GM12878	blood:	n/a	n/a
45	BCL3	chr3:195500070-195500358	GM12878	blood:	n/a	n/a
46	BCL3	chr3:195498991-195499274	GM12878	blood:	n/a	n/a
47	BCL3	chr3:195443679-195444036	GM12878	blood:	n/a	n/a
48	BCL3	chr3:195500527-195500837	GM12878	blood:	n/a	n/a
49	BCL3	chr3:195443689-195444055	GM12878	blood:	n/a	n/a
50	BCL3	chr3:195490220-195490736	GM12878	blood:	n/a	n/a

(count:5316 , 50 per page) page: 1 2 3 4 5 6 7 ... 107

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:195491863-195491913	A549	lung:	n/a
2	chr3:195484815-195484865	HCPEpiC	choroid plexus:	n/a
3	chr3:195537065-195537115	GM12892	blood:	n/a
4	chr3:195530532-195530582	GM12892	blood:	n/a
5	chr3:195536520-195536570	ProgFib	skin:	n/a
6	chr3:195536520-195536570	HRE	kidney:	n/a
7	chr3:195490094-195490144	GM12891	blood:	n/a
8	chr3:195490309-195490359	HRPEpiC	eye:	n/a
9	chr3:195488725-195488775	NH-A	brain:	n/a
10	chr3:195491863-195491913	A549	lung:	n/a
11	chr3:195484815-195484865	HCPEpiC	choroid plexus:	n/a
12	chr3:195537065-195537115	GM12892	blood:	n/a
13	chr3:195530532-195530582	GM12892	blood:	n/a
14	chr3:195536520-195536570	ProgFib	skin:	n/a
15	chr3:195536520-195536570	HRE	kidney:	n/a
16	chr3:195490094-195490144	GM12891	blood:	n/a
17	chr3:195490309-195490359	HRPEpiC	eye:	n/a
18	chr3:195488725-195488775	NH-A	brain:	n/a
19	chr3:195477968-195478018	A549	lung:	n/a
20	chr3:195491882-195491932	HRPEpiC	eye:	n/a
21	chr3:195539463-195539513	IMR90	lung:	fetal
22	chr3:195453369-195453419	NHBE	bronchial:	n/a
23	chr3:195536749-195536799	HCF	heart:	n/a
24	chr3:195539315-195539365	AG09319	gingival:	n/a
25	chr3:195477968-195478018	ProgFib	skin:	n/a
26	chr3:195516738-195516788	U87	brain:	n/a
27	chr3:195489708-195489758	Jurkat	blood:	n/a
28	chr3:195536485-195536535	HPAEpiC	pulmonary alveolar:	n/a
29	chr3:195489306-195489356	PFSK-1	brain:	n/a
30	chr3:195537065-195537115	NT2-D1	testis:	n/a
31	chr3:195491863-195491913	ovcar-3	ovarian:	n/a
32	chr3:195488725-195488775	MCF10A-Er-Src	breast:	n/a
33	chr3:195537065-195537115	NB4	blood:	n/a
34	chr3:195488725-195488775	SAEC	small airway:	n/a
35	chr3:195536749-195536799	SKMC	muscle:	n/a
36	chr3:195480636-195480686	GM12878	blood:	n/a
37	chr3:195497853-195497903	IMR90	lung:	fetal
38	chr3:195447551-195447601	AG09309	skin:	n/a
39	chr3:195460818-195460868	HRCEpiC	kidney:	n/a
40	chr3:195474125-195474175	HCPEpiC	choroid plexus:	n/a
41	chr3:195447691-195447741	CMK	blood:	n/a
42	chr3:195460818-195460868	CMK	blood:	n/a
43	chr3:195552341-195552391	HMEC	breast:	n/a
44	chr3:195539395-195539445	SAEC	small airway:	n/a
45	chr3:195456627-195456677	SAEC	small airway:	n/a
46	chr3:195477778-195477828	LNCaP	prostate:	n/a
47	chr3:195534854-195534904	PANC-1	pancreas:	n/a
48	chr3:195490094-195490144	U87	brain:	n/a
49	chr3:195488725-195488775	GM19239	blood:	n/a
50	chr3:195539297-195539347	NHBE	bronchial:	n/a

(count:102 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr3:195538780..195542380-chr3:195545442..195547950,3	K562	blood:
2	chr3:195523794..195527143-chr3:195528140..195531252,3	MCF-7	breast:
3	chr3:195454649..195458647-chr3:195470503..195474880,4	K562	blood:
4	chr3:195495303..195497609-chr3:195498505..195502105,3	K562	blood:
5	chr3:195535823..195537335-chr3:195544848..195546915,2	K562	blood:
6	chr3:195437280..195439173-chr9:83452129..83453649,2	MCF-7	breast:
7	chr3:195463655..195464591-chr3:195577474..195577998,2	MCF-7	breast:
8	chr3:195515076..195517287-chr3:195520045..195522414,2	MCF-7	breast:
9	chr3:195337920..195345337-chr3:195445475..195450049,8	K562	blood:
10	chr3:195529866..195531889-chr3:195572578..195574552,2	MCF-7	breast:
11	chr3:195520611..195522344-chr3:195574856..195577689,2	K562	blood:
12	chr3:195453331..195455915-chr3:195460397..195462706,2	K562	blood:
13	chr3:195527832..195530110-chr3:195530818..195533509,2	K562	blood:
14	chr3:195549448..195551263-chr3:195551965..195554150,2	K562	blood:
15	chr3:195552617..195555555-chr3:195561700..195563483,2	K562	blood:
16	chr3:195484220..195485786-chr3:195491845..195494192,2	K562	blood:
17	chr3:195545676..195548648-chr3:195549514..195552049,3	K562	blood:
18	chr3:195430620..195433582-chr3:195444610..195446942,2	K562	blood:
19	chr3:195432672..195434356-chr3:195437384..195440115,2	MCF-7	breast:
20	chr3:195458308..195461281-chr3:195462046..195463990,3	K562	blood:
21	chr3:195481187..195484161-chr3:195485374..195487384,2	K562	blood:
22	chr3:195491017..195492648-chr3:195498441..195501399,2	MCF-7	breast:
23	chr3:195453331..195454879-chr3:195460397..195463383,2	K562	blood:
24	chr3:195427805..195430080-chr3:195434118..195436042,2	MCF-7	breast:
25	chr3:195530953..195533764-chr3:195541586..195543592,2	MCF-7	breast:
26	chr3:195488664..195490636-chr3:195495110..195498079,3	K562	blood:
27	chr3:195537878..195540752-chr3:195542517..195545431,2	K562	blood:
28	chr3:195535544..195537323-chr3:195545415..195547156,2	K562	blood:
29	chr3:195477856..195480709-chr3:195482611..195484144,2	MCF-7	breast:
30	chr3:195529532..195531767-chr3:195548783..195551735,2	K562	blood:
31	chr3:195484220..195485786-chr3:195491845..195494192,2	K562	blood:
32	chr3:195544917..195546637-chr5:10491748..10493322,2	MCF-7	breast:
33	chr3:195458308..195461281-chr3:195462046..195463990,3	K562	blood:
34	chr3:195530055..195532719-chr3:195534968..195537902,2	MCF-7	breast:
35	chr3:195545056..195549063-chr3:195550359..195553607,6	K562	blood:
36	chr3:195523794..195527143-chr3:195528140..195531252,3	MCF-7	breast:
37	chr3:195520257..195522111-chr3:195576189..195578344,2	K562	blood:
38	chr3:195427721..195430448-chr3:195431030..195434151,3	MCF-7	breast:
39	chr3:195515076..195517287-chr3:195520045..195522414,2	MCF-7	breast:
40	chr3:195528182..195532092-chr3:195536465..195539276,3	MCF-7	breast:
41	chr3:195523728..195527160-chr3:195528335..195531835,4	MCF-7	breast:
42	chr3:195488664..195491675-chr3:195493738..195498079,5	K562	blood:
43	chr3:195437546..195440280-chr3:195575126..195577972,2	K562	blood:
44	chr3:195465367..195467593-chr3:195468304..195470616,2	K562	blood:
45	chr3:195425420..195427950-chr3:195516747..195519415,2	K562	blood:
46	chr3:195426708..195429363-chr3:195483002..195485966,2	K562	blood:
47	chr3:195527832..195530110-chr3:195530818..195533509,2	K562	blood:
48	chr3:195515568..195518880-chr3:195520246..195523689,5	K562	blood:
49	chr3:195533255..195536945-chr3:195537040..195538930,4	K562	blood:
50	chr3:195444198..195446149-chr3:195452391..195455209,2	MCF-7	breast:

(count:138 , 50 per page) page: 1 2 3

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC069257.9.1-4	chr3:195445771-195446106	NONHSAT094243
2	lnc-AC069257.9.1-4	chr3:195460021-195460422	ENSG00000242086.4
3	lnc-AC069257.9.1-4	chr3:195456214-195456422	ENSG00000242086.4
4	lnc-AC069257.9.1-4	chr3:195437151-195437541	NONHSAT094225
5	lnc-AC069257.9.1-4	chr3:195435444-195435712	ENSG00000242086.4
6	lnc-AC069257.9.1-4	chr3:195435618-195436459	NONHSAT094198
7	lnc-AC069257.9.1-14	chr3:195460456-195461185	l_2561_chr3:195448141-195461185_liver
8	lnc-AC069257.9.1-4	chr3:195437722-195438452	XLOC_002997
9	lnc-MUC4-1	chr3:195440409-195441172	NONHSAT094232
10	lnc-AC069257.9.1-4	chr3:195435025-195435306	ENSG00000242086.4
11	lnc-AC069257.9.1-4	chr3:195438172-195438183	NONHSAT094224
12	lnc-AC069257.9.1-4	chr3:195435618-195435712	ENSG00000242086.4
13	lnc-MUC4-1	chr3:195439939-195440230	NONHSAT094236
14	lnc-MUC4-1	chr3:195440972-195441967	NONHSAT094242
15	lnc-AC069257.9.1-4	chr3:195456214-195456406	ENSG00000242086.4
16	lnc-MUC4-1	chr3:195440716-195440760	NONHSAT094241
17	lnc-AC069257.9.1-14	chr3:195457668-195459366	l_2561_chr3:195448141-195461185_liver
18	lnc-AC069257.9.1-4	chr3:195435025-195435139	ENSG00000242086.4
19	lnc-MUC4-2	chr3:195438049-195438561	NONHSAT094228
20	lnc-AC069257.9.1-4	chr3:195435618-195435680	ENSG00000242086.2
21	lnc-AC069257.9.1-4	chr3:195435618-195435680	ENSG00000242086.4
22	lnc-AC069257.9.1-4	chr3:195437087-195437181	NONHSAT094224
23	lnc-AC069257.9.1-4	chr3:195435618-195436458	ENSG00000242086.4
24	lnc-AC069257.9.1-4	chr3:195449372-195449688	ENSG00000242086.4
25	lnc-MUC4-1	chr3:195440879-195442044	NONHSAT094237
26	lnc-AC069257.9.1-4	chr3:195460021-195460422	ENSG00000242086.4
27	lnc-AC069257.9.1-4	chr3:195449372-195449689	NONHSAT094244
28	lnc-AC069257.9.1-4	chr3:195435005-195435139	ENSG00000242086.4
29	lnc-AC069257.9.1-4	chr3:195435618-195435712	ENSG00000242086.4
30	lnc-AC069257.9.1-14	chr3:195448142-195448304	l_2561_chr3:195448141-195461185_liver
31	lnc-AC069257.9.1-4	chr3:195435005-195435676	NONHSAT094196
32	lnc-AC069257.9.1-4	chr3:195435618-195435712	ENSG00000242086.4
33	lnc-MUC4-1	chr3:195439939-195440230	NONHSAT094232
34	lnc-AC069257.9.1-4	chr3:195435357-195435712	ENSG00000242086.4
35	lnc-MUC4-1	chr3:195440215-195440408	NONHSAT094240
36	lnc-AC069257.9.1-4	chr3:195435005-195435139	ENSG00000242086.2
37	lnc-AC069257.9.1-4	chr3:195435005-195435339	ENSG00000242086.4
38	lnc-TNK2-11	chr3:195506240-195506583	l_2562_chr3:195497235-195506506_ovary
39	lnc-AC069257.9.1-4	chr3:195435618-195435631	ENSG00000242086.4
40	lnc-AC069257.9.1-4	chr3:195435025-195435139	ENSG00000242086.4
41	lnc-AC069257.9.1-4	chr3:195443259-195443460	ENSG00000242086.4
42	lnc-TNK2-10	chr3:195505666-195505928	NONHSAT094250
43	lnc-MUC4-2	chr3:195437644-195438294	NONHSAT094222
44	lnc-AC069257.9.1-4	chr3:195435300-195435384	ENSG00000242086.4
45	lnc-AC069257.9.1-4	chr3:195435618-195435653	XLOC_002997
46	lnc-AC069257.9.1-4	chr3:195435618-195436348	XLOC_002997
47	lnc-AC069257.9.1-4	chr3:195435025-195435139	ENSG00000242086.4
48	lnc-AC069257.9.1-4	chr3:195456519-195456993	NONHSAT094247
49	lnc-AC069257.9.1-4	chr3:195435005-195435306	NONHSAT094198
50	lnc-MUC4-1	chr3:195440848-195442396	NONHSAT094241

No data

Variant related genes	Relation type
LINC00969	TF binding region
MUC4	TF binding region
MUC20	TF binding region
LINC00969	CpG island
MUC4	CpG island
MUC20	CpG island
ENSG00000176945	chromatin interactions
ENSG00000224769	chromatin interactions
ENSG00000242086	chromatin interactions
ENSG00000207650	chromatin interactions
ENSG00000145113	chromatin interactions
ENSG00000163636	chromatin interactions
EGFR	miRNA target sites
PRDM1	miRNA target sites

Extended variants
information (count: 8175 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:8175 , 50 per page) page: 1 2 3 4 5 6 7 ... 164

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4927659	chr3:195433543-195433544	ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs563467637	chr3:195433547-195433548	ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs570911046	chr3:195433557-195433558	ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs369359761	chr3:195433570-195433571	ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs531385848	chr3:195433575-195433576	ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs537540566	chr3:195433607-195433608	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs549604217	chr3:195433677-195433678	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs138012548	chr3:195433696-195433697	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs200342992	chr3:195433708-195433709	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs370301410	chr3:195433713-195433714	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs9874042	chr3:195433714-195433715	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs61697553	chr3:195433715-195433716	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs397790229	chr3:195433727-195433728	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs200601809	chr3:195433728-195433729	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs535741322	chr3:195433763-195433764	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs547035212	chr3:195433795-195433796	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs539946107	chr3:195433813-195433814	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs6792153	chr3:195433841-195433842	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs56176097	chr3:195433855-195433856	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs76862770	chr3:195433872-195433873	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs78660961	chr3:195433878-195433879	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs6778670	chr3:195433915-195433916	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs376889391	chr3:195433934-195433935	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs565683182	chr3:195433955-195433956	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs55944523	chr3:195433958-195433959	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs2688505	chr3:195433969-195433970	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs576241462	chr3:195434027-195434028	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs57465500	chr3:195434043-195434044	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs143562119	chr3:195434044-195434045	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs537635360	chr3:195434052-195434053	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs115698223	chr3:195434073-195434074	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs574206068	chr3:195434077-195434078	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs62282087	chr3:195434088-195434089	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs559455825	chr3:195434098-195434099	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs112877501	chr3:195434120-195434121	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs545034463	chr3:195434121-195434122	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs563432515	chr3:195434140-195434141	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs530957664	chr3:195434158-195434159	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs2177335	chr3:195434182-195434183	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs561927069	chr3:195434223-195434224	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs529139017	chr3:195434226-195434227	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs6800900	chr3:195434253-195434254	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs199972293	chr3:195434267-195434268	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs547690165	chr3:195434280-195434281	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs565865804	chr3:195434295-195434296	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs2113227	chr3:195434375-195434376	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs551439089	chr3:195434415-195434416	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs552399455	chr3:195434419-195434420	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs569767935	chr3:195434452-195434453	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs576710998	chr3:195434468-195434469	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
Autism	19653912	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Cervical cancer	21062161	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Austim spectrum disorder	21302340	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	16397240	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
speech impairment	20736978	CNVD
Intracranial aneurysm	16715129	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mental retardation	17124404	CNVD
Congenital anomalies of the kidney and urinary tract	20299530	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21509527	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	16760732	CNVD
Schizophrenia	22118685	CNVD
Schizophrenia	22958593	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20970697	CNVD
Mental retardation	19951919	CNVD
Autism	20970697	CNVD
Developmental delay	18471269	CNVD
Intellectual disability	22045946	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Uveal melanoma	20484589	CNVD
3q29 microdeletion syndrome	20500065	CNVD
Biliary cancer	20453639	CNVD
3q29 microdeletion syndrome	22283845	CNVD
3q29 microdeletion syndrome	21626679	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:2315 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:195392000-195445400	Weak transcription	Fetal Kidney	kidney
2	chr3:195411400-195438400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr3:195411400-195441400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr3:195419400-195435800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr3:195419600-195438400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr3:195419600-195438400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr3:195419600-195442600	Weak transcription	Stomach Mucosa	stomach
8	chr3:195421400-195435400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr3:195421600-195435200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr3:195421600-195436200	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr3:195422000-195435200	Weak transcription	Liver	Liver
12	chr3:195422000-195435200	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr3:195423600-195436000	Weak transcription	GM12878-XiMat	blood
14	chr3:195424000-195434800	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr3:195424000-195435200	Weak transcription	Fetal Lung	lung
16	chr3:195424000-195435800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr3:195425200-195435000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr3:195425200-195435000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr3:195425200-195435000	Weak transcription	Thymus	Thymus
20	chr3:195425400-195435200	Weak transcription	HSMM	muscle
21	chr3:195425400-195436800	Weak transcription	Right Atrium	heart
22	chr3:195425400-195442400	Weak transcription	Psoas Muscle	Psoas
23	chr3:195425600-195435000	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr3:195425800-195435000	Weak transcription	Right Ventricle	heart
25	chr3:195425800-195435600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr3:195426000-195435000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr3:195426000-195435000	Weak transcription	Brain Substantia Nigra	brain
28	chr3:195426000-195435200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr3:195426000-195435200	Weak transcription	Fetal Brain Male	brain
30	chr3:195426000-195437800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr3:195426000-195440000	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr3:195426200-195435000	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr3:195426200-195435200	Weak transcription	Colon Smooth Muscle	Colon
34	chr3:195426600-195435000	Weak transcription	Fetal Muscle Trunk	muscle
35	chr3:195426800-195435000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr3:195426800-195435200	Weak transcription	Fetal Muscle Leg	muscle
37	chr3:195427000-195435000	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr3:195427000-195435000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr3:195427000-195435000	Weak transcription	Left Ventricle	heart
40	chr3:195427000-195435000	Weak transcription	Pancreas	Pancrea
41	chr3:195427000-195435200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr3:195427000-195435200	Weak transcription	Primary B cells from cord blood	blood
43	chr3:195427000-195435400	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr3:195427000-195436000	Weak transcription	K562	blood
45	chr3:195427200-195435000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr3:195427200-195435000	Weak transcription	Adipose Nuclei	Adipose
47	chr3:195427200-195435000	Weak transcription	Fetal Intestine Large	intestine
48	chr3:195427200-195435000	Weak transcription	Ovary	ovary
49	chr3:195427200-195435000	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr3:195427200-195435200	Weak transcription	Primary T helper cells fromperipheralblood	blood

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