Variant report

Variant	rs7515068
Chromosome Location	chr1:161372555-161372556
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	FOSL2	chr1:161372317-161372555	HepG2	liver:	n/a	chr1:161372352-161372361
2	FOS	chr1:161372301-161372638	MCF10A-Er-Src	breast:	n/a	chr1:161372352-161372361
3	POLR2A	chr1:161370900-161372674	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr1:161372292-161372599	MCF10A-Er-Src	breast:	n/a	chr1:161372352-161372361
5	STAT3	chr1:161372159-161372674	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr1:161372230-161372589	Hela-S3	cervix:	n/a	n/a
7	STAT3	chr1:161372172-161372672	MCF10A-Er-Src	breast:	n/a	n/a
8	STAT3	chr1:161372346-161372597	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:161371806..161374700-chr1:161382431..161384803,2	MCF-7	breast:
2	chr1:161358247..161360860-chr1:161371655..161373907,3	K562	blood:

Variant related genes	Relation type
ENSG00000215840	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12745664	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4077630	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4256831	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4282845	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4656297	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7530775	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432986	chr1:161221133-161673682	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1010776	chr1:161282384-161409218	Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv432998	chr1:161335902-161673682	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
4	nsv872493	chr1:161339060-161413794	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
5	nsv433009	chr1:161343927-161639328	Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
6	nsv1005812	chr1:161343951-161548101	Weak transcription Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
7	nsv535182	chr1:161343951-161548101	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
8	esv2756866	chr1:161344255-161681552	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
9	esv2758972	chr1:161344255-161681552	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
10	nsv998957	chr1:161353351-161398414	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
11	nsv433020	chr1:161355634-161673682	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
12	esv2754329	chr1:161355728-161673682	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
13	nsv433031	chr1:161355728-161673682	Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
14	nsv433042	chr1:161372038-161673682	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
15	nsv946461	chr1:161372505-161384947	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161370400-161375400	Weak transcription	Ovary	ovary
2	chr1:161370400-161379200	Weak transcription	Stomach Mucosa	stomach
3	chr1:161370400-161380000	Weak transcription	Gastric	stomach
4	chr1:161370600-161372800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr1:161370600-161373600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr1:161370600-161373800	Weak transcription	Small Intestine	intestine
7	chr1:161370600-161375200	Weak transcription	Hela-S3	cervix
8	chr1:161370600-161378600	Weak transcription	Fetal Heart	heart
9	chr1:161370600-161381800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:161370800-161373800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr1:161370800-161373800	Weak transcription	Left Ventricle	heart
12	chr1:161370800-161374400	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr1:161370800-161374800	Weak transcription	Fetal Brain Male	brain
14	chr1:161370800-161379200	Weak transcription	Colonic Mucosa	Colon
15	chr1:161371000-161373800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr1:161371000-161373800	Enhancers	K562	blood
17	chr1:161371000-161374400	Weak transcription	Fetal Lung	lung
18	chr1:161371000-161378800	Weak transcription	Duodenum Mucosa	Duodenum
19	chr1:161371000-161378800	Weak transcription	Fetal Intestine Small	intestine
20	chr1:161371000-161379000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr1:161371000-161379000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr1:161371000-161379000	Weak transcription	Right Atrium	heart
23	chr1:161371000-161379400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr1:161371000-161381400	Weak transcription	Esophagus	oesophagus
25	chr1:161371000-161387800	Weak transcription	Spleen	Spleen
26	chr1:161371200-161373400	Weak transcription	HepG2	liver
27	chr1:161371200-161373800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr1:161371200-161378800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr1:161371200-161379000	Weak transcription	Psoas Muscle	Psoas
30	chr1:161371400-161378400	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr1:161371400-161379000	Weak transcription	Primary B cells from peripheral blood	blood
32	chr1:161371600-161379000	Weak transcription	Right Ventricle	heart
33	chr1:161371800-161373800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr1:161371800-161374000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:161372000-161372600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr1:161372200-161372600	Weak transcription	Fetal Intestine Large	intestine
37	chr1:161372200-161372600	Enhancers	A549	lung
38	chr1:161372200-161372600	Enhancers	Osteobl	bone
39	chr1:161372200-161379800	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr1:161372400-161375400	Weak transcription	Pancreas	Pancrea

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