Variant report

Variant	rs12478172
Chromosome Location	chr2:36877180-36877181
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	JUN	chr2:36877176-36877562	Hela-S3	cervix:	n/a	chr2:36877367-36877379 chr2:36877365-36877376 chr2:36877368-36877378 chr2:36877370-36877377 chr2:36877368-36877377 chr2:36877369-36877378
2	POLR2A	chr2:36877106-36877557	PANC-1	pancreas:	n/a	n/a
3	FOXA1	chr2:36877053-36877565	HepG2	liver:	n/a	chr2:36877379-36877394
4	NFIC	chr2:36877020-36877770	SK-N-SH	brain:	n/a	n/a
5	JUN	chr2:36876747-36877638	K562	blood:	n/a	chr2:36877367-36877379 chr2:36877365-36877376 chr2:36877368-36877378 chr2:36877370-36877377 chr2:36877368-36877377 chr2:36877369-36877378
6	GTF2F1	chr2:36877133-36877626	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr2:36876950-36877564	Hela-S3	cervix:	n/a	n/a
8	FOSL2	chr2:36877089-36877650	MCF-7	breast:	n/a	chr2:36877367-36877379 chr2:36877365-36877376 chr2:36877368-36877378 chr2:36877370-36877377 chr2:36877368-36877379 chr2:36877368-36877377 chr2:36877369-36877378
9	FOSL2	chr2:36876965-36877752	A549	lung:	n/a	chr2:36877367-36877379 chr2:36877365-36877376 chr2:36877368-36877378 chr2:36877370-36877377 chr2:36877368-36877379 chr2:36877368-36877377 chr2:36877369-36877378
10	ELF1	chr2:36877133-36877772	MCF-7	breast:	n/a	chr2:36877404-36877417
11	RAD21	chr2:36877132-36877494	SK-N-SH_RA	brain:	n/a	n/a
12	FOSL2	chr2:36877026-36877638	HepG2	liver:	n/a	chr2:36877367-36877379 chr2:36877365-36877376 chr2:36877368-36877378 chr2:36877370-36877377 chr2:36877368-36877379 chr2:36877368-36877377 chr2:36877369-36877378
13	JUND	chr2:36877176-36877633	Hela-S3	cervix:	n/a	chr2:36877367-36877379 chr2:36877365-36877376 chr2:36877368-36877378 chr2:36877370-36877377 chr2:36877367-36877378 chr2:36877368-36877377 chr2:36877369-36877378
14	REST	chr2:36877031-36877519	ECC-1	luminal epithelium:	n/a	chr2:36877252-36877272 chr2:36877252-36877272 chr2:36877252-36877272
15	EP300	chr2:36877112-36877636	HepG2	liver:	n/a	chr2:36877368-36877377
16	JUND	chr2:36877034-36877724	SK-N-SH	brain:	n/a	chr2:36877367-36877379 chr2:36877365-36877376 chr2:36877368-36877378 chr2:36877370-36877377 chr2:36877367-36877378 chr2:36877368-36877377 chr2:36877369-36877378
17	TFAP2C	chr2:36877065-36877642	Hela-S3	cervix:	n/a	n/a
18	MYBL2	chr2:36877022-36877747	HepG2	liver:	n/a	n/a
19	ZKSCAN1	chr2:36877175-36877944	Hela-S3	cervix:	n/a	n/a
20	FOXA2	chr2:36877070-36878027	HepG2	liver:	n/a	n/a
21	REST	chr2:36877060-36877596	PFSK-1	brain:	n/a	chr2:36877252-36877272 chr2:36877252-36877272 chr2:36877252-36877272
22	MAX	chr2:36876973-36877759	A549	lung:	n/a	n/a
23	POLR2A	chr2:36877111-36877537	HCT-116	colon:	n/a	n/a
24	REST	chr2:36877061-36877412	Hela-S3	cervix:	n/a	chr2:36877252-36877272 chr2:36877252-36877272 chr2:36877252-36877272
25	REST	chr2:36877065-36877540	HepG2	liver:	n/a	chr2:36877252-36877272 chr2:36877252-36877272 chr2:36877252-36877272
26	RAD21	chr2:36877095-36877590	Hela-S3	cervix:	n/a	chr2:36877108-36877117
27	CEBPB	chr2:36876888-36877357	HepG2	liver:	n/a	chr2:36877011-36877022
28	MAX	chr2:36877050-36877607	Hela-S3	cervix:	n/a	n/a
29	SMC3	chr2:36876947-36877588	Hela-S3	cervix:	n/a	n/a
30	FOXA1	chr2:36877084-36877659	HepG2	liver:	n/a	chr2:36877379-36877394
31	FOXA2	chr2:36877101-36877714	A549	lung:	n/a	n/a
32	REST	chr2:36877077-36877626	MCF-7	breast:	n/a	chr2:36877252-36877272 chr2:36877252-36877272 chr2:36877252-36877272
33	TCF7L2	chr2:36877083-36877599	HCT-116	colon:	n/a	chr2:36877369-36877378
34	POLR2A	chr2:36877164-36877429	Gliobla	brain:	n/a	n/a
35	JUND	chr2:36877045-36877708	HCT-116	colon:	n/a	chr2:36877367-36877379 chr2:36877365-36877376 chr2:36877368-36877378 chr2:36877370-36877377 chr2:36877367-36877378 chr2:36877368-36877377 chr2:36877369-36877378
36	GATA3	chr2:36876932-36877767	A549	lung:	n/a	chr2:36877404-36877414 chr2:36877367-36877376
37	YY1	chr2:36877138-36877627	HepG2	liver:	n/a	n/a
38	JUND	chr2:36877048-36877687	SK-N-SH	brain:	n/a	chr2:36877367-36877379 chr2:36877365-36877376 chr2:36877368-36877378 chr2:36877370-36877377 chr2:36877367-36877378 chr2:36877368-36877377 chr2:36877369-36877378
39	FOSL2	chr2:36877058-36877625	HepG2	liver:	n/a	chr2:36877367-36877379 chr2:36877365-36877376 chr2:36877368-36877378 chr2:36877370-36877377 chr2:36877368-36877379 chr2:36877368-36877377 chr2:36877369-36877378
40	EP300	chr2:36876984-36877765	SK-N-SH	brain:	n/a	chr2:36877368-36877377
41	MAX	chr2:36877118-36877629	SK-N-SH	brain:	n/a	n/a
42	SP1	chr2:36876955-36877735	A549	lung:	n/a	n/a
43	FOXA1	chr2:36877077-36877680	HepG2	liver:	n/a	chr2:36877379-36877394
44	TAF1	chr2:36877112-36877458	Hela-S3	cervix:	n/a	n/a
45	MXI1	chr2:36877091-36877590	HepG2	liver:	n/a	n/a
46	SP1	chr2:36876958-36877656	A549	lung:	n/a	n/a
47	ELF1	chr2:36877127-36877544	MCF-7	breast:	n/a	chr2:36877404-36877417
48	NFIC	chr2:36877113-36877589	SK-N-SH	brain:	n/a	n/a
49	JUND	chr2:36877026-36877735	MCF-7	breast:	n/a	chr2:36877367-36877379 chr2:36877365-36877376 chr2:36877368-36877378 chr2:36877370-36877377 chr2:36877367-36877378 chr2:36877368-36877377 chr2:36877369-36877378
50	RCOR1	chr2:36877002-36877632	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:36873347..36875175-chr2:36875195..36878718,3	MCF-7	breast:
2	chr2:36823336..36826112-chr2:36873879..36877943,4	MCF-7	breast:

Variant related genes	Relation type
FEZ2	TF binding region
ENSG00000171055	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1012668	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2110881	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6704971	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6709011	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6738104	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs759429	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010985	chr2:36707157-36942066	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv535642	chr2:36707157-36942066	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS 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 target site	12 gene(s)	inside rSNPs	diseases
3	nsv1007757	chr2:36838387-37011384	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv535643	chr2:36838387-37011384	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv523146	chr2:36849220-36897909	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv526283	chr2:36851264-36880831	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1004483	chr2:36875235-37356812	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
8	nsv535644	chr2:36875235-37356812	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36870400-36877200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:36875200-36877400	Enhancers	Placenta	Placenta
3	chr2:36875400-36877200	Weak transcription	Pancreas	Pancrea
4	chr2:36876000-36877400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:36876000-36877600	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr2:36876200-36885000	Weak transcription	Psoas Muscle	Psoas
7	chr2:36876600-36877600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:36876600-36877600	Flanking Active TSS	Hela-S3	cervix
9	chr2:36876600-36877600	Enhancers	Osteobl	bone
10	chr2:36876600-36877800	Enhancers	Muscle Satellite Cultured Cells	--
11	chr2:36876800-36877200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr2:36876800-36877400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:36876800-36877600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:36876800-36877600	Enhancers	HMEC	breast
15	chr2:36876800-36877800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:36876800-36877800	Flanking Active TSS	A549	lung
17	chr2:36876800-36878400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:36877000-36877400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:36877000-36877400	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr2:36877000-36877400	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr2:36877000-36877400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr2:36877000-36877400	Enhancers	Esophagus	oesophagus
23	chr2:36877000-36877400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr2:36877000-36877400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
25	chr2:36877000-36877400	Enhancers	NH-A	brain
26	chr2:36877000-36877600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:36877000-36877600	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr2:36877000-36877600	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr2:36877000-36877600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:36877000-36877600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr2:36877000-36877600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr2:36877000-36877600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr2:36877000-36877600	Enhancers	Fetal Intestine Small	intestine
34	chr2:36877000-36877600	Enhancers	Stomach Mucosa	stomach
35	chr2:36877000-36877600	Flanking Active TSS	HepG2	liver
36	chr2:36877000-36877600	Enhancers	HSMM	muscle
37	chr2:36877000-36877600	Enhancers	HSMMtube	muscle
38	chr2:36877000-36877600	Enhancers	NHDF-Ad	bronchial
39	chr2:36877000-36877800	Enhancers	Fetal Intestine Large	intestine
40	chr2:36877000-36877800	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr2:36877000-36877800	Enhancers	HUVEC	blood vessel
42	chr2:36877000-36877800	Enhancers	NHEK	skin
43	chr2:36877000-36878000	Enhancers	NHLF	lung

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