Variant report

Variant	esv2830399
Chromosome Location	chr2:172781830-172952526
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2595)
CpG islands
(count:3295)
Chromatin interactive
region (count:331)
LncRNA
region (count:13)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2595 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:172914584-172914892	K562	blood:	n/a	n/a
2	ARID3A	chr2:172893071-172893460	HepG2	liver:	n/a	n/a
3	ARID3A	chr2:172930937-172931511	K562	blood:	n/a	n/a
4	ARID3A	chr2:172927551-172927788	K562	blood:	n/a	n/a
5	ARID3A	chr2:172864563-172865226	HepG2	liver:	n/a	n/a
6	ARID3A	chr2:172916809-172917967	HepG2	liver:	n/a	n/a
7	ARID3A	chr2:172913048-172913814	K562	blood:	n/a	n/a
8	ARID3A	chr2:172910679-172911423	K562	blood:	n/a	n/a
9	ARID3A	chr2:172950064-172950102	HepG2	liver:	n/a	n/a
10	ATF1	chr2:172873713-172873935	K562	blood:	n/a	n/a
11	ATF1	chr2:172831064-172831173	K562	blood:	n/a	n/a
12	ATF1	chr2:172942120-172942310	K562	blood:	n/a	n/a
13	ATF1	chr2:172931142-172931636	K562	blood:	n/a	n/a
14	ATF1	chr2:172910780-172911229	K562	blood:	n/a	n/a
15	ATF1	chr2:172944319-172944986	K562	blood:	n/a	n/a
16	ATF1	chr2:172811336-172811614	K562	blood:	n/a	n/a
17	ATF1	chr2:172886054-172886409	K562	blood:	n/a	n/a
18	ATF1	chr2:172892239-172892343	K562	blood:	n/a	n/a
19	ATF2	chr2:172864646-172865225	GM12878	blood:	n/a	n/a
20	ATF2	chr2:172864728-172865248	H1-hESC	embryonic stem cell:	n/a	n/a
21	ATF2	chr2:172876754-172877091	GM12878	blood:	n/a	n/a
22	ATF2	chr2:172876621-172877079	GM12878	blood:	n/a	n/a
23	ATF2	chr2:172864623-172865200	H1-hESC	embryonic stem cell:	n/a	n/a
24	ATF2	chr2:172864737-172865279	GM12878	blood:	n/a	n/a
25	ATF3	chr2:172873499-172873996	HCT-116	colon:	n/a	n/a
26	ATF3	chr2:172873487-172873987	HCT-116	colon:	n/a	n/a
27	ATF3	chr2:172864669-172865265	A549	lung:	n/a	n/a
28	ATF3	chr2:172864644-172865024	HepG2	liver:	n/a	n/a
29	ATF3	chr2:172873552-172873961	K562	blood:	n/a	n/a
30	ATF3	chr2:172864752-172864967	GM12878	blood:	n/a	n/a
31	ATF3	chr2:172864542-172865008	K562	blood:	n/a	n/a
32	ATF3	chr2:172864649-172865119	GM12878	blood:	n/a	n/a
33	ATF3	chr2:172864544-172865213	A549	lung:	n/a	n/a
34	BACH1	chr2:172951387-172952505	H1-hESC	embryonic stem cell:	n/a	n/a
35	BACH1	chr2:172945917-172946117	H1-hESC	embryonic stem cell:	n/a	n/a
36	BACH1	chr2:172864526-172865251	H1-hESC	embryonic stem cell:	n/a	n/a
37	BACH1	chr2:172947286-172947513	H1-hESC	embryonic stem cell:	n/a	n/a
38	BACH1	chr2:172878446-172878732	H1-hESC	embryonic stem cell:	n/a	n/a
39	BACH1	chr2:172949042-172950623	H1-hESC	embryonic stem cell:	n/a	n/a
40	BACH1	chr2:172848259-172848276	K562	blood:	n/a	n/a
41	BACH1	chr2:172823929-172823935	K562	blood:	n/a	n/a
42	BATF	chr2:172811328-172811550	GM12878	blood:	n/a	n/a
43	BATF	chr2:172876834-172877071	GM12878	blood:	n/a	n/a
44	BCL11A	chr2:172878376-172878694	GM12878	blood:	n/a	chr2:172878378-172878387
45	BCL3	chr2:172950057-172950756	A549	lung:	n/a	chr2:172950081-172950094
46	BCL3	chr2:172864767-172865174	GM12878	blood:	n/a	n/a
47	BCL3	chr2:172864390-172865401	A549	lung:	n/a	n/a
48	BCL3	chr2:172797345-172797621	GM12878	blood:	n/a	n/a
49	BCLAF1	chr2:172864552-172865212	GM12878	blood:	n/a	n/a
50	BCLAF1	chr2:172864465-172865197	GM12878	blood:	n/a	n/a

(count:3295 , 50 per page) page: 1 2 3 4 5 6 7 ... 66

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:172951553-172951603	H1-hESC	embryonic stem cell:	embryo
2	chr2:172951553-172951603	H1-hESC	embryonic stem cell:	embryo
3	chr2:172950219-172950269	PrEC	prostate:	n/a
4	chr2:172945698-172945748	GM12891	blood:	n/a
5	chr2:172864014-172864064	PrEC	prostate:	n/a
6	chr2:172951828-172951878	Hela-S3	cervix:	n/a
7	chr2:172864337-172864387	Jurkat	blood:	n/a
8	chr2:172945698-172945748	Hela-S3	cervix:	n/a
9	chr2:172941943-172941993	SK-N-MC	brain:	n/a
10	chr2:172945932-172945982	Hela-S3	cervix:	n/a
11	chr2:172948176-172948226	GM06990	blood:	n/a
12	chr2:172950125-172950175	ProgFib	skin:	n/a
13	chr2:172951501-172951551	SAEC	small airway:	n/a
14	chr2:172951966-172952016	NH-A	brain:	n/a
15	chr2:172943770-172943820	AG09319	gingival:	n/a
16	chr2:172950120-172950170	HCPEpiC	choroid plexus:	n/a
17	chr2:172948073-172948123	HEEpiC	esophagus:	n/a
18	chr2:172947075-172947125	NB4	blood:	n/a
19	chr2:172947075-172947125	U87	brain:	n/a
20	chr2:172945058-172945108	ECC-1	luminal epithelium:	n/a
21	chr2:172948176-172948226	HCF	heart:	n/a
22	chr2:172945058-172945108	HUVEC	blood vessel:	n/a
23	chr2:172950096-172950146	NB4	blood:	n/a
24	chr2:172948073-172948123	GM06990	blood:	n/a
25	chr2:172950397-172950447	H1-hESC	embryonic stem cell:	embryo
26	chr2:172952136-172952186	HEEpiC	esophagus:	n/a
27	chr2:172951501-172951551	AG04449	skin:	fetal
28	chr2:172887136-172887186	HCF	heart:	n/a
29	chr2:172947846-172947896	NB4	blood:	n/a
30	chr2:172951501-172951551	AG04450	lung:	fetal
31	chr2:172950096-172950146	AG04449	skin:	fetal
32	chr2:172950120-172950170	HRE	kidney:	n/a
33	chr2:172951553-172951603	Caco-2	colon:	n/a
34	chr2:172949284-172949334	AG09309	skin:	n/a
35	chr2:172945383-172945433	NHDF-neo	bronchial:	n/a
36	chr2:172950125-172950175	BJ	skin:	n/a
37	chr2:172947075-172947125	NHDF-neo	bronchial:	n/a
38	chr2:172949284-172949334	Jurkat	blood:	n/a
39	chr2:172945058-172945108	ProgFib	skin:	n/a
40	chr2:172949281-172949331	HRE	kidney:	n/a
41	chr2:172945144-172945194	SKMC	muscle:	n/a
42	chr2:172950856-172950906	A549	lung:	n/a
43	chr2:172951501-172951551	HRPEpiC	eye:	n/a
44	chr2:172916330-172916380	AG04449	skin:	fetal
45	chr2:172815385-172815435	HRCEpiC	kidney:	n/a
46	chr2:172945328-172945378	NH-A	brain:	n/a
47	chr2:172951501-172951551	ProgFib	skin:	n/a
48	chr2:172864014-172864064	HCM	heart:	n/a
49	chr2:172878103-172878153	MCF10A-Er-Src	breast:	n/a
50	chr2:172950067-172950117	CMK	blood:	n/a

(count:331 , 50 per page) page: 1 2 3 4 5 6 7

No.	Distal block	Cell Line	Cell type
1	chr2:172785586..172787767-chr2:172791438..172793230,2	K562	blood:
2	chr2:172749569..172751818-chr2:172827980..172831224,3	K562	blood:
3	chr2:172582430..172585207-chr2:172948678..172951618,2	MCF-7	breast:
4	chr2:172901732..172906441-chr2:172911766..172917938,8	K562	blood:
5	chr2:172864809..172867114-chr2:172897918..172900745,2	K562	blood:
6	chr2:172930135..172933791-chr2:172934281..172936934,5	K562	blood:
7	chr2:172841973..172843982-chr2:172863647..172866233,2	MCF-7	breast:
8	chr2:172859639..172861224-chr2:172868661..172870553,2	MCF-7	breast:
9	chr2:172544105..172545740-chr2:172841443..172843888,2	K562	blood:
10	chr2:172889910..172891414-chr2:172938513..172941287,2	MCF-7	breast:
11	chr2:172788825..172792438-chr2:172794169..172796469,4	K562	blood:
12	chr2:172864725..172866652-chr2:172872084..172875231,3	MCF-7	breast:
13	chr2:172903562..172906519-chr2:172947983..172949880,2	K562	blood:
14	chr2:172799089..172802068-chr6:26019596..26021619,2	MCF-7	breast:
15	chr2:172916809..172918657-chr2:172945564..172947082,2	MCF-7	breast:
16	chr2:172814950..172819995-chr2:172966096..172969167,6	MCF-7	breast:
17	chr2:172895941..172897535-chr2:172913713..172916052,2	K562	blood:
18	chr2:172896231..172898804-chr2:172903539..172906403,3	K562	blood:
19	chr2:172792590..172794612-chr2:172796180..172797698,2	K562	blood:
20	chr2:172784866..172787052-chr2:172788179..172790740,2	K562	blood:
21	chr2:172877706..172879734-chr2:172884622..172888221,3	K562	blood:
22	chr2:172864500..172866706-chr2:172879081..172880840,2	K562	blood:
23	chr2:172785109..172786612-chr2:172928440..172931097,2	K562	blood:
24	chr2:172822392..172824511-chr2:172856207..172858806,2	K562	blood:
25	chr2:172777448..172780686-chr2:172863264..172866650,5	K562	blood:
26	chr2:172885240..172888005-chr2:172889269..172891539,4	MCF-7	breast:
27	chr2:172874695..172877681-chr2:172884146..172886439,2	K562	blood:
28	chr2:172823483..172825325-chr2:172830958..172835156,3	K562	blood:
29	chr2:172919420..172922156-chr2:172937386..172939240,3	MCF-7	breast:
30	chr2:172822493..172825174-chr2:172862340..172864873,2	K562	blood:
31	chr2:172916809..172918657-chr2:172945564..172947082,2	MCF-7	breast:
32	chr2:172866585..172869561-chr2:172917120..172919427,2	K562	blood:
33	chr2:172894190..172896473-chr2:172910929..172913288,2	K562	blood:
34	chr2:172844744..172846425-chr2:172851326..172853305,2	K562	blood:
35	chr2:172860607..172867322-chr2:172946572..172954768,24	MCF-7	breast:
36	chr2:172777969..172780565-chr2:172796137..172798109,2	K562	blood:
37	chr2:172863189..172870519-chr2:172946500..172952655,22	K562	blood:
38	chr2:172905200..172906777-chr2:172909127..172910851,3	K562	blood:
39	chr2:172904276..172906441-chr2:172912588..172915159,2	K562	blood:
40	chr2:172807381..172810249-chr2:172812203..172814108,2	K562	blood:
41	chr2:172909379..172916271-chr2:172947539..172952263,13	K562	blood:
42	chr2:172928306..172931524-chr2:172948301..172950748,4	MCF-7	breast:
43	chr2:172911399..172913242-chr2:172927772..172930159,2	K562	blood:
44	chr2:172824373..172826532-chr2:172862535..172864466,2	K562	blood:
45	chr2:172896231..172898804-chr2:172903539..172906403,3	K562	blood:
46	chr2:172805225..172806853-chr2:172911394..172913520,2	K562	blood:
47	chr2:172895443..172898175-chr2:172947631..172951395,3	MCF-7	breast:
48	chr2:172862808..172868920-chr2:172961807..172971063,13	K562	blood:
49	chr2:172849902..172852989-chr2:172863264..172866294,5	K562	blood:
50	chr2:172860017..172861984-chr2:172875793..172878198,2	K562	blood:

(count:13 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-METAP1D-2	chr2:172874105-172874190	l_1987_chr2:172825346-172897114_testes
2	lnc-HAT1-1	chr2:172928439-172929142	NONHSAT075484
3	lnc-HAT1-1	chr2:172928439-172928478	NONHSAT075486
4	lnc-METAP1D-2	chr2:172896324-172897114	l_1987_chr2:172825346-172897114_testes
5	lnc-METAP1D-2	chr2:172940745-172940864	l_1987_chr2:172825346-172897114_testes
6	lnc-METAP1D-2	chr2:172902321-172902351	l_1987_chr2:172825346-172897114_testes
7	lnc-HAT1-1	chr2:172864862-172864916	NONHSAT075485
8	lnc-METAP1D-2	chr2:172825347-172825607	l_1987_chr2:172825346-172897114_testes
9	lnc-HAT1-1	chr2:172926226-172926383	NONHSAT075486
10	lnc-HAT1-1	chr2:172886703-172886771	NONHSAT075486
11	lnc-HAT1-1	chr2:172864850-172864916	NONHSAT075484
12	lnc-HAT1-1	chr2:172926226-172926383	NONHSAT075484
13	lnc-HAT1-1	chr2:172926226-172926722	NONHSAT075485

No data

Variant related genes	Relation type
DLX1	TF binding region
HAT1	TF binding region
METAP1D	TF binding region
SLC25A12	TF binding region
DLX1	CpG island
HAT1	CpG island
METAP1D	CpG island
SLC25A12	CpG island
ENSG00000071967	chromatin interactions
ENSG00000115844	chromatin interactions
ENSG00000172878	chromatin interactions
ENSG00000123600	chromatin interactions
ENSG00000029993	chromatin interactions
ENSG00000128708	chromatin interactions
ENSG00000236651	chromatin interactions
ENSG00000115840	chromatin interactions
ENSG00000232098	chromatin interactions
ENSG00000201524	chromatin interactions
ENSG00000270117	chromatin interactions
ENSG00000273344	chromatin interactions
ENSG00000178104	chromatin interactions
ENSG00000251562	chromatin interactions
ENSG00000144355	chromatin interactions
ENSG00000157212	chromatin interactions
ENSG00000077380	chromatin interactions
ENSG00000171574	chromatin interactions
ENSG00000168883	chromatin interactions
ENSG00000198586	chromatin interactions
ENSG00000115827	chromatin interactions
ENSG00000115806	chromatin interactions
ENSG00000164111	chromatin interactions
ENSG00000198366	chromatin interactions
TSPAN9	miRNA target sites
VCL	miRNA target sites

Extended variants
information (count: 5874 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:5874 , 50 per page) page: 1 2 3 4 5 6 7 ... 118

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544419396	chr2:172781847-172781848	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs191633347	chr2:172781869-172781870	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs183793781	chr2:172781870-172781871	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs539113426	chr2:172781923-172781924	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs79472940	chr2:172781933-172781934	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs569171390	chr2:172781939-172781940	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs536606072	chr2:172781992-172781993	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs374125419	chr2:172782015-172782016	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs554964045	chr2:172782035-172782036	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs377685641	chr2:172782043-172782044	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs112805066	chr2:172782045-172782046	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs143038231	chr2:172782111-172782112	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs540462647	chr2:172782117-172782118	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs558707348	chr2:172782169-172782170	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs191209922	chr2:172782192-172782193	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs544720917	chr2:172782254-172782255	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs182259075	chr2:172782310-172782311	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs530428595	chr2:172782360-172782361	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs186827540	chr2:172782374-172782375	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs148244210	chr2:172782390-172782391	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs556448661	chr2:172782394-172782395	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs141386798	chr2:172782407-172782408	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs571487611	chr2:172782425-172782426	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs10179799	chr2:172782481-172782482	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs532311011	chr2:172782518-172782519	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs150785892	chr2:172782524-172782525	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs7594478	chr2:172782630-172782631	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs531343884	chr2:172782660-172782661	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs560051638	chr2:172782686-172782687	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs139045722	chr2:172782715-172782716	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs536294256	chr2:172782732-172782733	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs554935834	chr2:172782744-172782745	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs191629225	chr2:172782773-172782774	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs543396036	chr2:172782804-172782805	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs113651928	chr2:172782809-172782810	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs11693293	chr2:172782810-172782811	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs534244972	chr2:172782811-172782812	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs528885008	chr2:172782878-172782879	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs577033948	chr2:172782879-172782880	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs544354268	chr2:172782961-172782962	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs556826796	chr2:172782964-172782965	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs183094710	chr2:172782965-172782966	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs542292434	chr2:172782988-172782989	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs560916513	chr2:172782993-172782994	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs188526125	chr2:172782999-172783000	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs540547911	chr2:172783069-172783070	Weak transcription Strong transcription Genic enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs192877512	chr2:172783087-172783088	Weak transcription Strong transcription Genic enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs80319570	chr2:172783100-172783101	Weak transcription Strong transcription Genic enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs143971675	chr2:172783141-172783142	Weak transcription Strong transcription Genic enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs185410161	chr2:172783152-172783153	Weak transcription Strong transcription Genic enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:49)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	16573809	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Donnai-Barrow syndrome	21085971	CNVD
Breast cancer	21045282	CNVD
Limb abnormalities	22140379	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	21364760	CNVD
Chronic myeloid leukemia	21384125	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:3853 , 50 per page) page: 1 2 3 4 5 6 7 ... 78

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172779600-172784600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr2:172779800-172785000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:172779800-172787200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr2:172779800-172828400	Weak transcription	Aorta	Aorta
5	chr2:172780000-172782400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr2:172780000-172789000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:172780000-172791000	Weak transcription	Esophagus	oesophagus
8	chr2:172780000-172812800	Weak transcription	Lung	lung
9	chr2:172780000-172829000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:172780200-172782000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr2:172780200-172782000	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr2:172780200-172782200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr2:172780200-172782400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:172780200-172786200	Weak transcription	Ovary	ovary
15	chr2:172780200-172786800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr2:172780200-172786800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr2:172780200-172787600	Weak transcription	Pancreas	Pancrea
18	chr2:172780200-172789800	Weak transcription	Colonic Mucosa	Colon
19	chr2:172780200-172792800	Weak transcription	Spleen	Spleen
20	chr2:172780200-172795000	Weak transcription	Psoas Muscle	Psoas
21	chr2:172780200-172795400	Weak transcription	Gastric	stomach
22	chr2:172780200-172822200	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr2:172780200-172840400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:172780400-172782000	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr2:172780400-172782200	Enhancers	Primary T cells from cord blood	blood
26	chr2:172780400-172782400	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr2:172780400-172782600	Weak transcription	Placenta	Placenta
28	chr2:172780400-172783000	Weak transcription	Primary B cells from peripheral blood	blood
29	chr2:172780400-172783000	Weak transcription	Fetal Intestine Small	intestine
30	chr2:172780400-172783200	Weak transcription	Duodenum Mucosa	Duodenum
31	chr2:172780400-172784800	Weak transcription	Fetal Brain Female	brain
32	chr2:172780400-172785400	Weak transcription	Brain Substantia Nigra	brain
33	chr2:172780400-172787000	Weak transcription	Brain Hippocampus Middle	brain
34	chr2:172780400-172787200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr2:172780400-172796600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr2:172780400-172820600	Weak transcription	Brain Angular Gyrus	brain
37	chr2:172780400-172848800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr2:172780600-172782000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr2:172780600-172782200	Weak transcription	Colon Smooth Muscle	Colon
40	chr2:172780600-172782200	Weak transcription	Stomach Mucosa	stomach
41	chr2:172780600-172782400	Weak transcription	Fetal Stomach	stomach
42	chr2:172780600-172782600	Weak transcription	Adipose Nuclei	Adipose
43	chr2:172780600-172783000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr2:172780600-172783200	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr2:172780600-172783200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr2:172780600-172783200	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr2:172780600-172783200	Weak transcription	Osteobl	bone
48	chr2:172780600-172783400	Weak transcription	HMEC	breast
49	chr2:172780600-172784000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr2:172780600-172786800	Weak transcription	Thymus	Thymus

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