Variant report

Variant	rs2871212
Chromosome Location	chr9:71735094-71735095
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	POLR2A	chr9:71734697-71738082	H1-hESC	embryonic stem cell:	n/a	n/a
2	TAF1	chr9:71734971-71737415	H1-hESC	embryonic stem cell:	n/a	n/a
3	TAF7	chr9:71734982-71737909	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr9:71735039-71735236	MCF-7	breast:	n/a	n/a
5	STAT3	chr9:71735039-71735177	MCF10A-Er-Src	breast:	n/a	n/a
6	HA-E2F1	chr9:71734691-71737841	MCF-7	breast:	n/a	chr9:71736134-71736144 chr9:71735695-71735707 chr9:71736086-71736097
7	EP300	chr9:71735057-71736213	H1-hESC	embryonic stem cell:	n/a	chr9:71736029-71736038
8	POLR2A	chr9:71734248-71738260	H1-hESC	embryonic stem cell:	n/a	n/a
9	TAF1	chr9:71734677-71737971	H1-hESC	embryonic stem cell:	n/a	n/a
10	MAX	chr9:71735010-71736417	H1-hESC	embryonic stem cell:	n/a	chr9:71736037-71736046
11	POLR2A	chr9:71734649-71738173	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr9:71734711-71738133	H1-hESC	embryonic stem cell:	n/a	n/a
13	NANOG	chr9:71735052-71735860	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr9:71734936-71735230	H1-hESC	embryonic stem cell:	n/a	n/a
15	TBP	chr9:71734772-71737996	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr9:71734824-71737169	HepG2	liver:	n/a	n/a
17	YY1	chr9:71735055-71736053	H1-hESC	embryonic stem cell:	n/a	n/a
18	RAD21	chr9:71735008-71737191	H1-hESC	embryonic stem cell:	n/a	n/a
19	E2F6	chr9:71734753-71736400	H1-hESC	embryonic stem cell:	n/a	chr9:71736134-71736144 chr9:71735695-71735707

No.	Distal block	Cell Line	Cell type
1	chr9:71733939..71735989-chr9:71814942..71816605,2	MCF-7	breast:
2	chr9:71720044..71724145-chr9:71733178..71738087,7	MCF-7	breast:
3	chr9:71734142..71739001-chr9:71788032..71795507,11	MCF-7	breast:
4	chr9:71732215..71735155-chr9:71735593..71737924,2	MCF-7	breast:
5	chr9:71733168..71738729-chr9:71786929..71793777,10	MCF-7	breast:

Variant related genes	Relation type
TJP2	TF binding region
ENSG00000270236	Chromatin interaction
ENSG00000119139	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10781425	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4745617	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57003137	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6420276	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7860277	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7870657	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051723	chr9:71398713-71971285	Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1053402	chr9:71399722-71819949	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv540146	chr9:71399722-71819949	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	nsv1043689	chr9:71399922-71800338	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv540147	chr9:71399922-71800338	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	nsv1047540	chr9:71401918-71803639	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	nsv931684	chr9:71417110-71957723	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
8	nsv1049175	chr9:71418242-71986910	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
9	nsv1035823	chr9:71465139-71901672	Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	nsv466396	chr9:71471912-71935577	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
11	nsv614548	chr9:71471912-71935577	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
12	nsv1051798	chr9:71511805-71792032	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
13	nsv1035477	chr9:71511927-71959487	Enhancers Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
14	nsv466397	chr9:71574757-71843023	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
15	nsv614550	chr9:71574757-71843023	Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
16	nsv1050692	chr9:71578494-71843023	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
17	nsv893416	chr9:71597840-71888601	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
18	nsv1040539	chr9:71600042-71844108	Weak transcription Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
19	nsv540149	chr9:71600042-71844108	Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
20	nsv949664	chr9:71607398-71842391	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
21	nsv948708	chr9:71632265-71842391	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
22	nsv1037787	chr9:71635338-71807648	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
23	nsv540151	chr9:71635338-71807648	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
24	nsv817209	chr9:71675454-71829412	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
25	nsv817406	chr9:71675454-72179318	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
26	nsv508550	chr9:71679166-71809433	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
27	nsv6550	chr9:71714144-71760048	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	n/a
28	esv1798602	chr9:71718195-71764191	Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	n/a
29	esv3398013	chr9:71722447-71746627	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	n/a
30	esv3427257	chr9:71725447-71746948	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	n/a
31	esv1815650	chr9:71733603-71743100	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	n/a
32	esv1840396	chr9:71733603-71743100	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	n/a
33	nsv511419	chr9:71733603-71746253	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71701800-71735200	Weak transcription	Primary T cells from cord blood	blood
2	chr9:71712600-71735200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr9:71720400-71735600	Weak transcription	Left Ventricle	heart
4	chr9:71727200-71735800	Weak transcription	Brain Substantia Nigra	brain
5	chr9:71729800-71745600	Weak transcription	K562	blood
6	chr9:71730600-71736000	Weak transcription	NHDF-Ad	bronchial
7	chr9:71731000-71735400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr9:71731000-71736000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr9:71731000-71736000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr9:71731200-71735400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr9:71734400-71735600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr9:71734400-71735600	Enhancers	Fetal Lung	lung
13	chr9:71734600-71735200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr9:71734600-71735200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr9:71734600-71735200	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr9:71734600-71735400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr9:71734600-71735400	Enhancers	Stomach Mucosa	stomach
18	chr9:71734600-71735600	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr9:71734800-71735200	Enhancers	Duodenum Mucosa	Duodenum
20	chr9:71734800-71735200	Enhancers	HepG2	liver
21	chr9:71734800-71735600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr9:71734800-71737800	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr9:71734800-71737800	Active TSS	H9 Cell Line	embryonic stem cell
24	chr9:71735000-71735200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
25	chr9:71735000-71735200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr9:71735000-71735200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr9:71735000-71735200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr9:71735000-71735200	Enhancers	Liver	Liver
29	chr9:71735000-71735200	Flanking Active TSS	Fetal Intestine Small	intestine
30	chr9:71735000-71735200	Enhancers	Rectal Mucosa Donor 29	rectum
31	chr9:71735000-71735200	Enhancers	Hela-S3	cervix
32	chr9:71735000-71735400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr9:71735000-71735600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr9:71735000-71735600	Bivalent/Poised TSS	Fetal Stomach	stomach
35	chr9:71735000-71735600	Enhancers	Placenta Amnion	Placenta Amnion
36	chr9:71735000-71735800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr9:71735000-71736400	Flanking Active TSS	Placenta	Placenta
38	chr9:71735000-71737600	Active TSS	Pancreas	Pancrea
39	chr9:71735000-71737800	Active TSS	HUES48 Cell Line	embryonic stem cell
40	chr9:71735000-71737800	Active TSS	iPS-15b Cell Line	embryonic stem cell
41	chr9:71735000-71738200	Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr9:71735000-71738200	Active TSS	Fetal Intestine Large	intestine

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