Variant report

Variant	rs557673096
Chromosome Location	chr2:96804390-96804391
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PAX5	chr2:96804349-96804867	GM12878	blood:	n/a	n/a
2	PBX3	chr2:96803521-96804739	GM12878	blood:	n/a	n/a
3	POLR2A	chr2:96804286-96805285	Hela-S3	cervix:	n/a	n/a
4	RAD21	chr2:96804292-96804887	MCF-7	breast:	n/a	chr2:96804597-96804616 chr2:96804602-96804614 chr2:96804602-96804612
5	POLR2A	chr2:96804354-96804609	HCT-116	colon:	n/a	n/a
6	FOXM1	chr2:96804289-96805005	GM12878	blood:	n/a	n/a
7	CTCF	chr2:96804376-96804810	H1-hESC	embryonic stem cell:	n/a	chr2:96804596-96804614 chr2:96804598-96804619 chr2:96804599-96804608 chr2:96804596-96804609 chr2:96804599-96804612
8	ZEB1	chr2:96804053-96804594	GM12878	blood:	n/a	chr2:96804540-96804549
9	TAF7	chr2:96804364-96804731	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr2:96803032-96805938	GM12878	blood:	n/a	n/a
11	POLR2A	chr2:96799588-96805762	GM12891	blood:	n/a	n/a
12	RAD21	chr2:96804284-96805013	HCT-116	colon:	n/a	chr2:96804597-96804616 chr2:96804602-96804614 chr2:96804602-96804612
13	RAD21	chr2:96804337-96804840	H1-hESC	embryonic stem cell:	n/a	chr2:96804597-96804616 chr2:96804602-96804614 chr2:96804602-96804612
14	TCF3	chr2:96804323-96804698	GM12878	blood:	n/a	n/a
15	POLR2A	chr2:96802923-96814679	GM12891	blood:	n/a	n/a
16	ATF2	chr2:96804363-96805090	GM12878	blood:	n/a	n/a
17	CTCF	chr2:96804372-96804875	GM12878	blood:	n/a	chr2:96804596-96804614 chr2:96804598-96804619 chr2:96804599-96804608 chr2:96804596-96804609 chr2:96804599-96804612
18	TCF12	chr2:96804381-96804673	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr2:96803038-96805865	GM12878	blood:	n/a	n/a
20	CTCF	chr2:96804374-96805000	A549	lung:	n/a	chr2:96804596-96804614 chr2:96804598-96804619 chr2:96804599-96804608 chr2:96804596-96804609 chr2:96804599-96804612
21	POLR2A	chr2:96804376-96805205	H1-hESC	embryonic stem cell:	n/a	n/a
22	ELF1	chr2:96804267-96804810	GM12878	blood:	n/a	chr2:96804703-96804715
23	CTCF	chr2:96804387-96804839	MCF-7	breast:	n/a	chr2:96804596-96804614 chr2:96804598-96804619 chr2:96804599-96804608 chr2:96804596-96804609 chr2:96804599-96804612
24	POLR2A	chr2:96797189-96814534	GM12892	blood:	n/a	n/a
25	POLR2A	chr2:96804135-96804698	H1-hESC	embryonic stem cell:	n/a	n/a
26	BCLAF1	chr2:96804324-96805057	GM12878	blood:	n/a	n/a
27	NFATC1	chr2:96804357-96805083	GM12878	blood:	n/a	n/a
28	POLR2A	chr2:96803005-96805758	GM18505	blood:	n/a	n/a
29	POLR2A	chr2:96802771-96805555	GM12891	blood:	n/a	n/a
30	POLR2A	chr2:96800040-96811369	IMR90	lung:	n/a	n/a
31	POLR2A	chr2:96803331-96805419	GM15510	blood:	n/a	n/a
32	BCL11A	chr2:96804373-96804759	GM12878	blood:	n/a	n/a
33	ATF2	chr2:96804388-96804885	GM12878	blood:	n/a	n/a
34	POLR2A	chr2:96803204-96805708	GM12892	blood:	n/a	n/a
35	STAT5A	chr2:96804387-96804961	GM12878	blood:	n/a	chr2:96804528-96804536 chr2:96804593-96804601
36	ZBTB7A	chr2:96804371-96804758	ECC-1	luminal epithelium:	n/a	n/a
37	POLR2A	chr2:96802751-96813556	GM12892	blood:	n/a	n/a
38	TBP	chr2:96804086-96804765	H1-hESC	embryonic stem cell:	n/a	n/a
39	TAF1	chr2:96804389-96804697	H1-hESC	embryonic stem cell:	n/a	n/a
40	RAD21	chr2:96804378-96805108	H1-hESC	embryonic stem cell:	n/a	chr2:96804597-96804616 chr2:96804602-96804614 chr2:96804602-96804612
41	RUNX3	chr2:96804368-96804790	GM12878	blood:	n/a	n/a
42	POLR2A	chr2:96803143-96805678	GM12878	blood:	n/a	n/a
43	NFATC1	chr2:96803000-96805569	GM12878	blood:	n/a	n/a
44	STAT5A	chr2:96804041-96804821	GM12878	blood:	n/a	chr2:96804528-96804536 chr2:96804593-96804601
45	EBF1	chr2:96804374-96804655	GM12878	blood:	n/a	n/a
46	POLR2A	chr2:96803618-96805386	GM18526	blood:	n/a	n/a
47	POLR2A	chr2:96803003-96814644	GM12878	blood:	n/a	n/a
48	ELF1	chr2:96804269-96804801	GM12878	blood:	n/a	chr2:96804703-96804715
49	POLR2A	chr2:96803974-96805429	GM18951	blood:	n/a	n/a
50	POLR2A	chr2:96803051-96812890	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:96802498..96805773-chr2:96872667..96874693,3	MCF-7	breast:
2	chr2:96802971..96805127-chr2:96925819..96928248,3	MCF-7	breast:
3	chr2:96803968..96806803-chr2:96872820..96874681,2	K562	blood:
4	chr2:96804240..96806780-chr2:96931719..96933407,3	MCF-7	breast:

Variant related genes	Relation type
ASTL	TF binding region
ENSG00000135956	Chromatin interaction
ENSG00000084090	Chromatin interaction
ENSG00000204685	Chromatin interaction
ENSG00000144021	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1840487	chr2:96582807-96836512	Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv874672	chr2:96637870-96809331	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv874673	chr2:96647856-96825363	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	esv1825266	chr2:96704118-96830753	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
5	nsv1004129	chr2:96738585-96825363	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
6	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
7	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
8	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
9	nsv874675	chr2:96741944-96825363	Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
10	nsv874676	chr2:96753149-96825363	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
11	esv1819594	chr2:96755038-96833480	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
12	nsv1008495	chr2:96755070-96825363	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
13	nsv1002392	chr2:96756289-96815149	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
14	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
15	nsv1004977	chr2:96757107-96819188	Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
16	nsv1015000	chr2:96757107-96825363	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
17	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
18	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
19	nsv1007132	chr2:96767204-96829489	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
20	esv3419661	chr2:96803250-96805798	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96787800-96807800	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr2:96788200-96804400	Weak transcription	Primary B cells from peripheral blood	blood
3	chr2:96789800-96804400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr2:96792000-96808000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr2:96796000-96804800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr2:96798000-96809400	Weak transcription	Gastric	stomach
7	chr2:96800000-96804800	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr2:96802000-96805400	Enhancers	Primary T cells fromperipheralblood	blood
9	chr2:96802000-96805400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr2:96802200-96804400	Weak transcription	Thymus	Thymus
11	chr2:96802600-96810200	Weak transcription	HSMMtube	muscle
12	chr2:96803000-96804600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr2:96803000-96805400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr2:96803200-96805200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr2:96803400-96805000	Weak transcription	Primary T cells from cord blood	blood
16	chr2:96803400-96805400	Enhancers	Esophagus	oesophagus
17	chr2:96803400-96805400	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr2:96803600-96804400	Enhancers	H1 Cell Line	embryonic stem cell
19	chr2:96803600-96805200	Enhancers	Colonic Mucosa	Colon
20	chr2:96803600-96805600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr2:96803600-96808000	Weak transcription	Spleen	Spleen
22	chr2:96803600-96809200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr2:96803800-96804400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr2:96803800-96804800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr2:96803800-96805400	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr2:96804000-96804400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr2:96804000-96804400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr2:96804000-96804800	Enhancers	Pancreas	Pancrea
29	chr2:96804000-96805200	Enhancers	Fetal Intestine Large	intestine
30	chr2:96804000-96805200	Enhancers	Fetal Intestine Small	intestine
31	chr2:96804000-96805200	Enhancers	Rectal Mucosa Donor 29	rectum
32	chr2:96804000-96805400	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr2:96804000-96805800	Enhancers	Fetal Thymus	thymus
34	chr2:96804200-96804600	Active TSS	iPS-15b Cell Line	embryonic stem cell
35	chr2:96804200-96804600	Enhancers	Primary B cells from cord blood	blood
36	chr2:96804200-96804600	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr2:96804200-96805200	Enhancers	Stomach Mucosa	stomach

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