Variant report

Variant	rs12667853
Chromosome Location	chr7:7216175-7216176
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	USF1	chr7:7215971-7216464	ECC-1	luminal epithelium:	n/a	chr7:7216217-7216228 chr7:7216216-7216229
2	USF1	chr7:7216039-7216429	A549	lung:	n/a	chr7:7216217-7216228 chr7:7216216-7216229
3	GTF2F1	chr7:7216148-7217048	Hela-S3	cervix:	n/a	n/a
4	USF1	chr7:7216053-7216350	SK-N-SH_RA	brain:	n/a	chr7:7216217-7216228 chr7:7216216-7216229
5	FOS	chr7:7216032-7217293	HUVEC	blood vessel:	n/a	chr7:7216254-7216263 chr7:7216252-7216263
6	USF1	chr7:7216036-7216425	A549	lung:	n/a	chr7:7216217-7216228 chr7:7216216-7216229
7	RCOR1	chr7:7216122-7217181	HepG2	liver:	n/a	n/a
8	FOSL1	chr7:7215992-7217227	HCT-116	colon:	n/a	chr7:7216254-7216263
9	USF1	chr7:7216046-7216423	H1-hESC	embryonic stem cell:	n/a	chr7:7216217-7216228 chr7:7216216-7216229
10	FOS	chr7:7215976-7217393	MCF10A-Er-Src	breast:	n/a	chr7:7216254-7216263 chr7:7216252-7216263
11	BHLHE40	chr7:7216053-7216431	HepG2	liver:	n/a	chr7:7216216-7216229
12	POLR2A	chr7:7215977-7216431	H1-neurons	neurons:	n/a	n/a
13	USF1	chr7:7216061-7216353	HepG2	liver:	n/a	chr7:7216217-7216228 chr7:7216216-7216229
14	MAX	chr7:7216015-7217093	Hela-S3	cervix:	n/a	chr7:7216217-7216228
15	FOS	chr7:7215995-7217149	MCF10A-Er-Src	breast:	n/a	chr7:7216254-7216263 chr7:7216252-7216263
16	MAX	chr7:7216056-7217225	HepG2	liver:	n/a	chr7:7216217-7216228
17	POLR2A	chr7:7216011-7216345	SK-N-SH	brain:	n/a	n/a
18	USF1	chr7:7215935-7216407	ECC-1	luminal epithelium:	n/a	chr7:7216217-7216228 chr7:7216216-7216229
19	MAX	chr7:7216093-7216386	K562	blood:	n/a	chr7:7216217-7216228
20	MAX	chr7:7216024-7216406	SK-N-SH	brain:	n/a	chr7:7216217-7216228
21	MBD4	chr7:7215979-7217231	HepG2	liver:	n/a	n/a
22	JUND	chr7:7216088-7217240	HepG2	liver:	n/a	chr7:7216254-7216263
23	USF2	chr7:7216054-7216369	H1-hESC	embryonic stem cell:	n/a	chr7:7216217-7216228 chr7:7216216-7216229
24	JUN	chr7:7215994-7217118	Hela-S3	cervix:	n/a	chr7:7216254-7216263 chr7:7216912-7216925
25	STAT3	chr7:7215975-7216447	MCF10A-Er-Src	breast:	n/a	n/a
26	MAX	chr7:7216069-7216412	ECC-1	luminal epithelium:	n/a	chr7:7216217-7216228
27	RFX5	chr7:7216005-7216477	Hela-S3	cervix:	n/a	n/a
28	USF1	chr7:7215915-7216588	HCT-116	colon:	n/a	chr7:7216217-7216228 chr7:7216216-7216229
29	MAFK	chr7:7216081-7216301	IMR90	lung:	n/a	n/a
30	FOSL2	chr7:7216102-7216400	A549	lung:	n/a	chr7:7216254-7216263 chr7:7216253-7216264
31	FOS	chr7:7216052-7217131	MCF10A-Er-Src	breast:	n/a	chr7:7216254-7216263 chr7:7216252-7216263
32	MXI1	chr7:7216102-7217142	HepG2	liver:	n/a	n/a
33	MAX	chr7:7216081-7216403	MCF-7	breast:	n/a	chr7:7216217-7216228
34	MYC	chr7:7216054-7216691	NB4	blood:	n/a	chr7:7216217-7216228
35	CEBPB	chr7:7215856-7217467	HCT-116	colon:	n/a	chr7:7216412-7216423 chr7:7216911-7216922
36	MAX	chr7:7216037-7216398	HUVEC	blood vessel:	n/a	chr7:7216217-7216228
37	RCOR1	chr7:7216076-7216409	Hela-S3	cervix:	n/a	n/a
38	NFIC	chr7:7216007-7217342	HepG2	liver:	n/a	n/a
39	USF2	chr7:7216102-7216275	GM12878	blood:	n/a	chr7:7216217-7216228 chr7:7216216-7216229
40	TEAD4	chr7:7215982-7216417	ECC-1	luminal epithelium:	n/a	n/a
41	USF1	chr7:7215860-7216586	SK-N-SH	brain:	n/a	chr7:7216217-7216228 chr7:7216216-7216229
42	EP300	chr7:7216017-7216458	HepG2	liver:	n/a	chr7:7216198-7216205
43	JUN	chr7:7216140-7217126	HepG2	liver:	n/a	chr7:7216254-7216263 chr7:7216912-7216925
44	MAX	chr7:7216067-7216262	K562	blood:	n/a	chr7:7216217-7216228
45	USF1	chr7:7215972-7216435	SK-N-SH	brain:	n/a	chr7:7216217-7216228 chr7:7216216-7216229
46	SP1	chr7:7215863-7217356	HCT-116	colon:	n/a	n/a
47	FOSL1	chr7:7216053-7216437	K562	blood:	n/a	chr7:7216254-7216263
48	SMARCC1	chr7:7216098-7217070	Hela-S3	cervix:	n/a	n/a
49	USF1	chr7:7216034-7216489	K562	blood:	n/a	chr7:7216217-7216228 chr7:7216216-7216229
50	JUND	chr7:7216112-7216284	HepG2	liver:	n/a	chr7:7216254-7216263

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:7204006..7207074-chr7:7212584..7216605,3	K562	blood:
2	chr7:7213763..7219997-chr7:7220116..7223880,12	MCF-7	breast:

Variant related genes	Relation type
ENSG00000244167	TF binding region
ENSG00000106392	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10278474	0.94[CHB][hapmap];0.82[CHD][hapmap];0.83[JPT][hapmap];0.80[ASN][1000 genomes]
rs12672133	1.00[EUR][1000 genomes]
rs4720723	0.82[MKK][hapmap]
rs5010182	0.94[CHB][hapmap];0.83[JPT][hapmap]
rs55637396	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6960962	0.82[ASN][1000 genomes]
rs73043785	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73043789	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	nsv1032974	chr7:7145831-7393218	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
17	nsv1026758	chr7:7187491-8075259	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
18	nsv508445	chr7:7190518-7261098	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
19	esv2758102	chr7:7209911-7493901	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
20	esv2759505	chr7:7209911-7493901	Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7205800-7220800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr7:7205800-7220800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr7:7208000-7216600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:7211200-7220400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr7:7212000-7220400	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr7:7212800-7218800	Strong transcription	Primary B cells from cord blood	blood
7	chr7:7212800-7220800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr7:7213000-7216400	Enhancers	HepG2	liver
9	chr7:7213000-7220400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr7:7213000-7220400	Weak transcription	Dnd41	blood
11	chr7:7213400-7219800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr7:7213600-7220800	Enhancers	HMEC	breast
13	chr7:7213800-7216400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr7:7213800-7216400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr7:7213800-7216800	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr7:7213800-7217600	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr7:7214000-7216600	Enhancers	Placenta	Placenta
18	chr7:7214000-7217000	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr7:7215000-7216400	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr7:7215000-7216400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr7:7215000-7216400	Enhancers	NHDF-Ad	bronchial
22	chr7:7215000-7217000	Enhancers	Primary T cells from cord blood	blood
23	chr7:7215000-7217600	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr7:7215000-7217800	Enhancers	Fetal Intestine Large	intestine
25	chr7:7215200-7217200	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr7:7215200-7217600	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr7:7215200-7217800	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr7:7215200-7217800	Enhancers	HSMM	muscle
29	chr7:7215200-7218800	Enhancers	Placenta Amnion	Placenta Amnion
30	chr7:7215400-7216200	Enhancers	HUVEC	blood vessel
31	chr7:7215400-7216200	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr7:7215400-7217200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr7:7215400-7217800	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr7:7215400-7218200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr7:7215400-7218800	Enhancers	Hela-S3	cervix
36	chr7:7215400-7218800	Enhancers	Osteobl	bone
37	chr7:7215600-7216200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr7:7215600-7216200	Enhancers	A549	lung
39	chr7:7215600-7216200	Enhancers	NH-A	brain
40	chr7:7215600-7216400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr7:7215600-7216800	Enhancers	Adipose Nuclei	Adipose
42	chr7:7215600-7217000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr7:7215600-7217000	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr7:7215600-7217200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
45	chr7:7215600-7217200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr7:7215800-7216200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr7:7215800-7216800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr7:7215800-7217000	Enhancers	Primary neutrophils fromperipheralblood	blood
49	chr7:7215800-7217000	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr7:7215800-7218400	Weak transcription	Primary B cells from peripheral blood	blood

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