Variant report

Variant	esv1826030
Chromosome Location	chr3:19972766-20170581
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3683)
CpG islands
(count:2321)
Chromatin interactive
region (count:217)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:13)

(count:3683 , 50 per page) page: 1 2 3 4 5 6 7 ... 74

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:19999876-19999936	K562	blood:	n/a	n/a
2	ARID3A	chr3:19989243-19989553	HepG2	liver:	n/a	n/a
3	ARID3A	chr3:20102456-20102678	HepG2	liver:	n/a	n/a
4	ARID3A	chr3:19988883-19988922	K562	blood:	n/a	n/a
5	ARID3A	chr3:20002338-20002581	K562	blood:	n/a	n/a
6	ARID3A	chr3:20083156-20083470	K562	blood:	n/a	n/a
7	ARID3A	chr3:20043611-20043819	K562	blood:	n/a	n/a
8	ARID3A	chr3:19979685-19979859	HepG2	liver:	n/a	n/a
9	ARID3A	chr3:20008657-20009619	K562	blood:	n/a	n/a
10	ARID3A	chr3:20080060-20080685	K562	blood:	n/a	n/a
11	ARID3A	chr3:20065245-20065546	K562	blood:	n/a	n/a
12	ARID3A	chr3:20063992-20065045	K562	blood:	n/a	n/a
13	ARID3A	chr3:19999473-19999541	K562	blood:	n/a	n/a
14	ARID3A	chr3:20079145-20079315	K562	blood:	n/a	n/a
15	ARID3A	chr3:20082402-20082577	K562	blood:	n/a	n/a
16	ARID3A	chr3:19988281-19988728	HepG2	liver:	n/a	n/a
17	ARID3A	chr3:19974779-19974812	K562	blood:	n/a	n/a
18	ARID3A	chr3:20056175-20056432	K562	blood:	n/a	n/a
19	ARID3A	chr3:19975714-19975914	K562	blood:	n/a	n/a
20	ARID3A	chr3:19987115-19987639	HepG2	liver:	n/a	n/a
21	ARID3A	chr3:20096000-20096345	HepG2	liver:	n/a	n/a
22	ARID3A	chr3:20081499-20081651	K562	blood:	n/a	n/a
23	ARID3A	chr3:19986723-19988668	K562	blood:	n/a	n/a
24	ARID3A	chr3:19978769-19979488	K562	blood:	n/a	n/a
25	ARID3A	chr3:19972705-19973731	K562	blood:	n/a	n/a
26	ARID3A	chr3:20057080-20057584	K562	blood:	n/a	n/a
27	ATF1	chr3:20057033-20057364	K562	blood:	n/a	n/a
28	ATF1	chr3:19973259-19973741	K562	blood:	n/a	n/a
29	ATF1	chr3:20145751-20146090	K562	blood:	n/a	n/a
30	ATF1	chr3:19972653-19973054	K562	blood:	n/a	n/a
31	ATF1	chr3:19978931-19979563	K562	blood:	n/a	n/a
32	ATF1	chr3:19987645-19988784	K562	blood:	n/a	n/a
33	ATF1	chr3:20092738-20093002	K562	blood:	n/a	n/a
34	ATF1	chr3:20064360-20065076	K562	blood:	n/a	n/a
35	ATF2	chr3:19987979-19988412	H1-hESC	embryonic stem cell:	n/a	n/a
36	ATF2	chr3:19972720-19973301	GM12878	blood:	n/a	n/a
37	ATF2	chr3:20145678-20146063	GM12878	blood:	n/a	n/a
38	ATF2	chr3:20167304-20167868	GM12878	blood:	n/a	n/a
39	ATF2	chr3:19987825-19988939	GM12878	blood:	n/a	n/a
40	ATF2	chr3:19972636-19973243	GM12878	blood:	n/a	n/a
41	ATF2	chr3:20167264-20167940	GM12878	blood:	n/a	n/a
42	ATF2	chr3:20145673-20146200	GM12878	blood:	n/a	n/a
43	ATF2	chr3:19988400-19988707	H1-hESC	embryonic stem cell:	n/a	n/a
44	ATF2	chr3:20081302-20081776	GM12878	blood:	n/a	n/a
45	ATF2	chr3:20082866-20083368	GM12878	blood:	n/a	n/a
46	ATF3	chr3:19988313-19988710	K562	blood:	n/a	n/a
47	ATF3	chr3:19988385-19988823	A549	lung:	n/a	n/a
48	ATF3	chr3:20095973-20096523	HCT-116	colon:	n/a	n/a
49	ATF3	chr3:20095922-20096535	A549	lung:	n/a	n/a
50	ATF3	chr3:20064284-20064746	K562	blood:	n/a	n/a

(count:2321 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:20082285-20082335	Caco-2	colon:	n/a
2	chr3:20026603-20026653	HEEpiC	esophagus:	n/a
3	chr3:20115681-20115731	ECC-1	luminal epithelium:	n/a
4	chr3:20082285-20082335	Caco-2	colon:	n/a
5	chr3:20026603-20026653	HEEpiC	esophagus:	n/a
6	chr3:20115681-20115731	ECC-1	luminal epithelium:	n/a
7	chr3:20049624-20049674	MCF-7	breast:	n/a
8	chr3:19987815-19987865	HepG2	liver:	n/a
9	chr3:19988404-19988454	AG10803	skin:	n/a
10	chr3:19988404-19988454	Jurkat	blood:	n/a
11	chr3:19989128-19989178	ProgFib	skin:	n/a
12	chr3:19988404-19988454	RPTEC	kidney:	n/a
13	chr3:19992400-19992450	HRE	kidney:	n/a
14	chr3:19988460-19988510	GM12878	blood:	n/a
15	chr3:19976136-19976186	HPAEpiC	pulmonary alveolar:	n/a
16	chr3:20082285-20082335	RPTEC	kidney:	n/a
17	chr3:19989128-19989178	HRCEpiC	kidney:	n/a
18	chr3:20085136-20085186	H1-hESC	embryonic stem cell:	embryo
19	chr3:19988340-19988390	HCT-116	colon:	n/a
20	chr3:19988132-19988182	HRPEpiC	eye:	n/a
21	chr3:19992400-19992450	HCM	heart:	n/a
22	chr3:19987665-19987715	BJ	skin:	n/a
23	chr3:19975514-19975564	HCM	heart:	n/a
24	chr3:20082425-20082475	NB4	blood:	n/a
25	chr3:19989218-19989268	SK-N-SH	brain:	n/a
26	chr3:20026603-20026653	GM06990	blood:	n/a
27	chr3:20081518-20081568	NB4	blood:	n/a
28	chr3:20085136-20085186	Hela-S3	cervix:	n/a
29	chr3:20085136-20085186	T-47D	breast:	n/a
30	chr3:19975738-19975788	HEEpiC	esophagus:	n/a
31	chr3:19989128-19989178	MCF-7	breast:	n/a
32	chr3:20049638-20049688	Hela-S3	cervix:	n/a
33	chr3:19990693-19990743	SKMC	muscle:	n/a
34	chr3:20049638-20049688	HEEpiC	esophagus:	n/a
35	chr3:20082285-20082335	GM12892	blood:	n/a
36	chr3:19975738-19975788	PFSK-1	brain:	n/a
37	chr3:19989128-19989178	Hela-S3	cervix:	n/a
38	chr3:19987665-19987715	HCPEpiC	choroid plexus:	n/a
39	chr3:20049638-20049688	LNCaP	prostate:	n/a
40	chr3:20053708-20053758	ProgFib	skin:	n/a
41	chr3:19988132-19988182	Caco-2	colon:	n/a
42	chr3:19990693-19990743	HUVEC	blood vessel:	n/a
43	chr3:19975483-19975533	ECC-1	luminal epithelium:	n/a
44	chr3:20082543-20082593	HEEpiC	esophagus:	n/a
45	chr3:20082543-20082593	AG04450	lung:	fetal
46	chr3:19989218-19989268	SKMC	muscle:	n/a
47	chr3:19987528-19987578	HEK293	kidney:	embryo
48	chr3:20082285-20082335	HAEpiC	amniotic membrane:	n/a
49	chr3:20085136-20085186	HRE	kidney:	n/a
50	chr3:20026603-20026653	HRCEpiC	kidney:	n/a

(count:217 , 50 per page) page: 1 2 3 4 5

No.	Distal block	Cell Line	Cell type
1	chr3:20071377..20073447-chr3:20074855..20077238,2	K562	blood:
2	chr3:20096569..20098445-chr3:20104189..20106827,2	MCF-7	breast:
3	chr3:19992532..19994138-chr3:20013293..20015192,2	K562	blood:
4	chr3:19975673..19977428-chr3:19977475..19979847,2	K562	blood:
5	chr3:20138975..20141320-chr3:20146365..20149046,3	K562	blood:
6	chr3:20108340..20110457-chr3:20115203..20117134,2	K562	blood:
7	chr3:20160386..20162756-chr3:20172063..20173693,2	K562	blood:
8	chr3:19979101..19981901-chr3:20077826..20080437,2	K562	blood:
9	chr3:20061429..20064668-chr3:20080168..20082891,4	K562	blood:
10	chr3:20071377..20073447-chr3:20074855..20077238,2	K562	blood:
11	chr3:20133592..20135375-chr3:20142503..20144573,2	K562	blood:
12	chr3:20116266..20118891-chr3:20121268..20123312,2	MCF-7	breast:
13	chr3:19980872..19982514-chr3:19987046..19988631,2	MCF-7	breast:
14	chr1:155107729..155108614-chr3:19988180..19988972,2	Hela-S3	cervix:
15	chr3:20002287..20004974-chr3:20006037..20009711,3	K562	blood:
16	chr3:20096664..20098215-chr3:20134683..20136839,2	K562	blood:
17	chr3:20116658..20118757-chr3:20120468..20122356,2	K562	blood:
18	chr3:19972358..19974488-chr3:19986587..19990326,5	MCF-7	breast:
19	chr3:20082249..20087148-chr3:20090873..20095169,4	K562	blood:
20	chr3:19188168..19190474-chr3:19988134..19989911,2	MCF-7	breast:
21	chr3:19998852..20001425-chr3:20020103..20022422,2	MCF-7	breast:
22	chr3:20069120..20070627-chr3:20076892..20079468,2	K562	blood:
23	chr3:19991110..19993492-chr3:20053410..20056377,2	K562	blood:
24	chr3:20151399..20153827-chr3:20159687..20162098,3	K562	blood:
25	chr3:19987782..19990680-chr3:20013275..20017779,4	K562	blood:
26	chr3:19999505..20001254-chr3:20002139..20004557,2	MCF-7	breast:
27	chr3:20121220..20122803-chr3:20153116..20155641,2	MCF-7	breast:
28	chr3:19999385..20001229-chr3:20001451..20003044,2	K562	blood:
29	chr3:20007751..20010574-chr3:20010896..20013275,2	MCF-7	breast:
30	chr3:20080805..20083716-chr3:20136030..20137757,2	K562	blood:
31	chr3:20119888..20122634-chr3:20122993..20124532,2	K562	blood:
32	chr3:20050259..20051981-chr3:20063056..20065911,2	K562	blood:
33	chr3:19967166..19969606-chr3:20013917..20016357,2	MCF-7	breast:
34	chr3:20133592..20135375-chr3:20142503..20144573,2	K562	blood:
35	chr3:20008792..20011141-chr3:20013456..20016159,2	MCF-7	breast:
36	chr3:20007536..20010825-chr3:20014102..20016831,3	K562	blood:
37	chr3:20022682..20025378-chr3:20026127..20028940,2	MCF-7	breast:
38	chr3:20000869..20003143-chr3:20080337..20083927,3	K562	blood:
39	chr3:20079693..20081472-chr3:20203928..20206383,2	K562	blood:
40	chr3:19987383..19992426-chr3:20011245..20019650,13	MCF-7	breast:
41	chr3:20035142..20037256-chr3:20064733..20066737,2	K562	blood:
42	chr3:20002226..20004591-chr3:20006312..20009350,3	MCF-7	breast:
43	chr3:20105530..20108149-chr3:20143893..20147714,3	MCF-7	breast:
44	chr3:19971930..19974485-chr3:19985453..19987123,2	MCF-7	breast:
45	chr3:19975611..19979082-chr3:19987774..19990681,3	MCF-7	breast:
46	chr3:20046912..20049769-chr3:20052524..20055370,2	K562	blood:
47	chr3:20061429..20065762-chr3:20080168..20083220,6	K562	blood:
48	chr3:20058205..20061001-chr3:20066769..20068692,2	K562	blood:
49	chr3:19987695..19989238-chr3:20006327..20008572,3	MCF-7	breast:
50	chr3:19986921..19992254-chr3:20078952..20084327,16	K562	blood:

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EFHB-4	chr3:20053542-20053765	NR_027694
2	lnc-EFHB-4	chr3:20042467-20043588	NONHSAT088608
3	lnc-EFHB-2	chr3:19987406-19987746	NONHSAT088605
4	lnc-EFHB-4	chr3:20025686-20025788	NR_027694
5	lnc-EFHB-3	chr3:20049344-20049739	NONHSAT088609
6	lnc-EFHB-4	chr3:20053542-20053749	NONHSAT088608
7	lnc-EFHB-2	chr3:19988411-19988517	NONHSAT088605
8	lnc-EFHB-4	chr3:20042522-20043588	NR_027694
9	lnc-EFHB-4	chr3:20021453-20021666	NR_027694

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location
1	RAB5A	hsa-miR-18a-5p	chr3:20025965-20025987
2	RAB5A	hsa-miR-130a-3p	chr3:20026477-20026484
3	RAB5A	hsa-miR-33a-5p	chr3:20026130-20026148
4	RAB5A	hsa-miR-101-3p	chr3:20025772-20025793
5	RAB5A	hsa-miR-101-3p	chr3:20026185-20026206
6	RAB5A	hsa-miR-33a-5p	chr3:20026571-20026591
7	RAB5A	hsa-miR-130b-3p	chr3:20026477-20026484
8	RAB5A	hsa-miR-130a-3p	chr3:20026128-20026150
9	RAB5A	hsa-miR-101-3p	chr3:20026272-20026293
10	RAB5A	hsa-miR-130b-3p	chr3:20026129-20026150
11	RAB5A	hsa-miR-130b-3p	chr3:20026461-20026484
12	RAB5A	hsa-miR-130a-3p	chr3:20026463-20026484
13	RAB5A	hsa-miR-101-3p	chr3:20026199-20026206

Variant related genes	Relation type
KAT2B	TF binding region
ENSG00000229468	TF binding region
RNU4-85P	TF binding region
EFHB	TF binding region
RAB5A	TF binding region
PP2D1	TF binding region
ENSG00000230697	TF binding region
HSPA8P18	TF binding region
KAT2B	CpG island
ENSG00000229468	CpG island
RNU4-85P	CpG island
EFHB	CpG island
RAB5A	CpG island
PP2D1	CpG island
ENSG00000230697	CpG island
HSPA8P18	CpG island
ENSG00000183960	chromatin interactions
ENSG00000200463	chromatin interactions
ENSG00000230697	chromatin interactions
ENSG00000163576	chromatin interactions
ENSG00000229468	chromatin interactions
ENSG00000235194	chromatin interactions
ENSG00000267321	chromatin interactions
ENSG00000169241	chromatin interactions
ENSG00000129810	chromatin interactions
ENSG00000114166	chromatin interactions
ENSG00000201545	chromatin interactions
ENSG00000183977	chromatin interactions
ENSG00000100441	chromatin interactions
ENSG00000144566	chromatin interactions

Extended variants
information (count: 8037 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:8037 , 50 per page) page: 1 2 3 4 5 6 7 ... 161

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551948601	chr3:19972781-19972782	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs3849533	chr3:19972792-19972793	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs144196129	chr3:19972797-19972798	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs568074550	chr3:19972800-19972801	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs117236788	chr3:19972826-19972827	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs71316238	chr3:19972827-19972828	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs568926190	chr3:19972845-19972846	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs539604816	chr3:19972885-19972886	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs28494818	chr3:19972915-19972916	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs573285025	chr3:19972936-19972937	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs41482746	chr3:19972947-19972948	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs555300904	chr3:19972948-19972949	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs2929318	chr3:19973047-19973048	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs181893936	chr3:19973048-19973049	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs80296966	chr3:19973059-19973060	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs375260706	chr3:19973156-19973157	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs184929970	chr3:19973180-19973181	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs189784048	chr3:19973184-19973185	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs560565044	chr3:19973186-19973187	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs140883478	chr3:19973234-19973235	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs79524909	chr3:19973267-19973268	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs546723734	chr3:19973305-19973306	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs150159089	chr3:19973353-19973354	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs181179250	chr3:19973389-19973390	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs550630238	chr3:19973463-19973464	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs569111547	chr3:19973485-19973486	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs186266248	chr3:19973509-19973510	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs540061265	chr3:19973521-19973522	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs557923618	chr3:19973524-19973525	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs79886806	chr3:19973525-19973526	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs80316166	chr3:19973550-19973551	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs191564948	chr3:19973557-19973558	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs555461173	chr3:19973606-19973607	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs145583742	chr3:19973660-19973661	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs544182663	chr3:19973669-19973670	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs550462665	chr3:19973724-19973725	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs17180735	chr3:19973830-19973831	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs34763204	chr3:19973836-19973837	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs73190462	chr3:19973874-19973875	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs183401398	chr3:19973909-19973910	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs560692017	chr3:19973912-19973913	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs572702151	chr3:19973938-19973939	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs547804635	chr3:19973978-19973979	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs35367156	chr3:19974053-19974054	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs11929340	chr3:19974171-19974172	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs199502096	chr3:19974186-19974187	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs371778401	chr3:19974187-19974188	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs2929351	chr3:19974188-19974189	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs570654367	chr3:19974209-19974210	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs376419977	chr3:19974279-19974280	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Developmental delay	21147756	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Autism	20531469	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Ovarian cancer	21781307	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Prostate cancer	19363497	CNVD
Chordoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:5804 , 50 per page) page: 1 2 3 4 5 6 7 ... 117

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:19972000-19974600	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr3:19972000-19975000	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr3:19972200-19973000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr3:19972400-19973200	Enhancers	Primary B cells from cord blood	blood
5	chr3:19972400-19974200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr3:19972600-19972800	Flanking Active TSS	Primary hematopoietic stem cells	blood
7	chr3:19972600-19972800	Enhancers	GM12878-XiMat	blood
8	chr3:19972600-19972800	Enhancers	K562	blood
9	chr3:19972600-19973000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr3:19972600-19973000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
11	chr3:19972600-19973600	Enhancers	Primary B cells from peripheral blood	blood
12	chr3:19972600-19973600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr3:19972600-19973600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr3:19972600-19974000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr3:19972800-19973200	Enhancers	Primary hematopoietic stem cells	blood
16	chr3:19972800-19973400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr3:19972800-19973600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr3:19972800-19973600	Flanking Active TSS	GM12878-XiMat	blood
19	chr3:19972800-19973600	Enhancers	HMEC	breast
20	chr3:19972800-19973800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr3:19972800-19974000	Flanking Active TSS	K562	blood
22	chr3:19972800-19974200	Enhancers	Hela-S3	cervix
23	chr3:19973000-19973200	Enhancers	Primary T cells from cord blood	blood
24	chr3:19973000-19973400	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr3:19973000-19973400	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr3:19973000-19975400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr3:19973200-19973400	Flanking Active TSS	Primary B cells from cord blood	blood
28	chr3:19973200-19973600	Flanking Active TSS	Primary hematopoietic stem cells	blood
29	chr3:19973200-19973800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr3:19973200-19974000	Enhancers	A549	lung
31	chr3:19973400-19973600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
32	chr3:19973400-19973800	Enhancers	Placenta Amnion	Placenta Amnion
33	chr3:19973600-19974200	Enhancers	GM12878-XiMat	blood
34	chr3:19973600-19974400	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr3:19973600-19974800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr3:19973600-19975400	Enhancers	Primary hematopoietic stem cells	blood
37	chr3:19973600-19979200	Weak transcription	HMEC	breast
38	chr3:19973600-19987200	Weak transcription	Primary B cells from peripheral blood	blood
39	chr3:19973800-19975400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr3:19973800-19978400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr3:19973800-19979000	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr3:19974000-19974600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr3:19974000-19975400	Weak transcription	A549	lung
44	chr3:19974000-19975400	Enhancers	K562	blood
45	chr3:19974200-19974400	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr3:19974200-19979200	Weak transcription	Hela-S3	cervix
47	chr3:19974400-19974600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
48	chr3:19974600-19976000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr3:19974800-19975800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr3:19975000-19975200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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