Variant report

Variant	rs28870102
Chromosome Location	chr7:7145047-7145048
allele	A/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	RCOR1	chr7:7143590-7145289	K562	blood:	n/a	n/a
2	TBP	chr7:7144715-7145098	K562	blood:	n/a	n/a
3	ATF1	chr7:7144752-7145210	K562	blood:	n/a	n/a
4	NR2F2	chr7:7143849-7145047	K562	blood:	n/a	n/a
5	IRF1	chr7:7143944-7145283	K562	blood:	n/a	chr7:7144261-7144275 chr7:7144262-7144276 chr7:7144260-7144274
6	EP300	chr7:7143879-7145154	K562	blood:	n/a	chr7:7144494-7144504
7	CBX3	chr7:7144596-7145396	K562	blood:	n/a	n/a
8	ZNF384	chr7:7144907-7145870	K562	blood:	n/a	n/a
9	GATA1	chr7:7143485-7145599	K562	blood:	n/a	chr7:7144159-7144168
10	JUND	chr7:7143875-7145297	K562	blood:	n/a	n/a
11	TAL1	chr7:7145020-7145096	K562	blood:	n/a	n/a
12	IRF1	chr7:7143927-7145505	K562	blood:	n/a	chr7:7144261-7144275 chr7:7144262-7144276 chr7:7144260-7144274

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:7139063..7141673-chr7:7144287..7145917,3	K562	blood:

Variant related genes	Relation type
ENSG00000201218	TF binding region

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10244984	1.00[ASN][1000 genomes]
rs10262534	1.00[ASN][1000 genomes]
rs10271901	1.00[ASN][1000 genomes]
rs1160672	1.00[ASN][1000 genomes]
rs13244338	1.00[ASN][1000 genomes]
rs13309086	1.00[ASN][1000 genomes]
rs1347024	0.92[EUR][1000 genomes]
rs1368053	1.00[ASN][1000 genomes]
rs28840453	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56956332	1.00[ASN][1000 genomes]
rs60167550	1.00[ASN][1000 genomes]
rs6977967	1.00[ASN][1000 genomes]
rs7789994	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7793373	1.00[ASN][1000 genomes]
rs7796782	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7803331	1.00[EUR][1000 genomes]
rs9784919	1.00[ASN][1000 genomes]
rs9784942	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015277	chr7:6705439-7303195	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv887457	chr7:6820508-7163442	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
3	nsv887461	chr7:6832265-7163442	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
4	nsv1022295	chr7:6854098-7171376	Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
5	nsv1021638	chr7:6854098-7188086	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
6	nsv1023133	chr7:6854098-7516700	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
7	nsv869091	chr7:6927461-7567820	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
8	nsv428160	chr7:6936949-7219553	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
9	nsv1020929	chr7:6954959-7232920	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	39 gene(s)	inside rSNPs	diseases
10	nsv949293	chr7:6990891-7711883	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
11	nsv1023662	chr7:7001595-7145831	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
12	nsv1022306	chr7:7001595-7149989	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
13	esv2761153	chr7:7001607-7190803	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
14	nsv887467	chr7:7036939-7163442	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
15	nsv887468	chr7:7036939-7187522	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
16	nsv887469	chr7:7036939-7205749	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
17	nsv1020681	chr7:7039474-7150307	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
18	nsv464299	chr7:7040176-7150584	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
19	nsv606032	chr7:7040176-7150584	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
20	nsv464300	chr7:7040176-7368699	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
21	nsv606033	chr7:7040176-7368699	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
22	nsv1016044	chr7:7040500-7150307	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
23	nsv1015553	chr7:7053923-7201291	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
24	nsv538719	chr7:7053923-7201291	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
25	nsv1016369	chr7:7053923-7375567	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
26	nsv1023788	chr7:7053923-7407783	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
27	nsv538720	chr7:7053923-7407783	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
28	nsv1032813	chr7:7053923-7497484	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
29	nsv1030246	chr7:7053923-7569633	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
30	nsv1019498	chr7:7053923-7668373	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
31	nsv538721	chr7:7053923-7668373	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
32	nsv606034	chr7:7129858-7173681	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7139800-7146200	Weak transcription	Fetal Intestine Small	intestine
2	chr7:7142800-7146400	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr7:7143000-7145600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr7:7143000-7145800	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr7:7143200-7146600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr7:7143200-7147400	Weak transcription	Dnd41	blood
7	chr7:7143800-7145400	Enhancers	H1 Cell Line	embryonic stem cell
8	chr7:7143800-7145400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:7143800-7145800	Enhancers	HepG2	liver
10	chr7:7143800-7146800	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr7:7143800-7146800	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr7:7144000-7145600	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr7:7144000-7145600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr7:7144000-7146600	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr7:7144000-7150200	Weak transcription	Hela-S3	cervix
16	chr7:7144000-7154600	Weak transcription	Right Atrium	heart
17	chr7:7144200-7145800	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr7:7144400-7145200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr7:7144400-7146600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr7:7144400-7146800	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr7:7144600-7145400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr7:7144600-7145400	Enhancers	Primary T cells fromperipheralblood	blood
23	chr7:7144600-7145400	Flanking Active TSS	K562	blood
24	chr7:7144600-7145600	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr7:7144600-7145600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr7:7144600-7145600	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr7:7144600-7146800	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr7:7144800-7145200	Enhancers	Primary T cells from cord blood	blood
29	chr7:7144800-7145400	Enhancers	H9 Cell Line	embryonic stem cell
30	chr7:7144800-7145400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr7:7144800-7145400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr7:7144800-7145400	Enhancers	Fetal Thymus	thymus
33	chr7:7144800-7145800	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr7:7145000-7145200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr7:7145000-7145200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr7:7145000-7145200	Enhancers	Muscle Satellite Cultured Cells	--
37	chr7:7145000-7145600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr7:7145000-7145800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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