Variant report

Variant	rs7212770
Chromosome Location	chr17:15160659-15160660
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	POLR2A	chr17:15160610-15160972	HUVEC	blood vessel:	n/a	n/a
2	CTCF	chr17:15160513-15161053	A549	lung:	n/a	chr17:15160714-15160727 chr17:15160835-15160856 chr17:15160833-15160851 chr17:15160836-15160845
3	POLR2A	chr17:15160422-15161185	U87	brain:	n/a	n/a
4	YY1	chr17:15160602-15160993	ECC-1	luminal epithelium:	n/a	n/a
5	CTCF	chr17:15160499-15161154	MCF-7	breast:	n/a	chr17:15160714-15160727 chr17:15160835-15160856 chr17:15160833-15160851 chr17:15160836-15160845
6	CTBP2	chr17:15160585-15161018	H1-hESC	embryonic stem cell:	n/a	n/a
7	RAD21	chr17:15160573-15161030	HepG2	liver:	n/a	chr17:15160835-15160844 chr17:15160710-15160729 chr17:15160834-15160853
8	ZNF143	chr17:15160653-15161039	GM12878	blood:	n/a	n/a
9	ZNF143	chr17:15160633-15161280	H1-hESC	embryonic stem cell:	n/a	n/a
10	MXI1	chr17:15159961-15161515	SK-N-SH	brain:	n/a	n/a
11	RAD21	chr17:15160495-15161135	H1-hESC	embryonic stem cell:	n/a	chr17:15160835-15160844 chr17:15160710-15160729 chr17:15160834-15160853
12	GABPA	chr17:15160574-15161018	H1-hESC	embryonic stem cell:	n/a	n/a
13	MAX	chr17:15160498-15161063	ECC-1	luminal epithelium:	n/a	chr17:15160755-15160764
14	MAX	chr17:15160512-15161028	ECC-1	luminal epithelium:	n/a	chr17:15160755-15160764
15	ZNF263	chr17:15160122-15161426	HEK293-T-REx	kidney:	n/a	n/a
16	CTCF	chr17:15160658-15160971	MCF-7	breast:	n/a	chr17:15160714-15160727 chr17:15160835-15160856 chr17:15160833-15160851 chr17:15160836-15160845
17	CTCF	chr17:15160645-15160988	MCF-7	breast:	n/a	chr17:15160714-15160727 chr17:15160835-15160856 chr17:15160833-15160851 chr17:15160836-15160845
18	JUND	chr17:15160629-15160996	A549	lung:	n/a	chr17:15160818-15160826 chr17:15160816-15160827 chr17:15160683-15160697 chr17:15160817-15160827 chr17:15160817-15160827 chr17:15160817-15160827 chr17:15160816-15160828
19	POLR2A	chr17:15160359-15161185	U87	brain:	n/a	n/a
20	USF1	chr17:15160628-15160983	A549	lung:	n/a	n/a
21	MAX	chr17:15160627-15160908	Hela-S3	cervix:	n/a	chr17:15160755-15160764
22	MAX	chr17:15160429-15161087	H1-hESC	embryonic stem cell:	n/a	chr17:15160755-15160764
23	CTCF	chr17:15160630-15161014	SK-N-SH_RA	brain:	n/a	chr17:15160714-15160727 chr17:15160835-15160856 chr17:15160833-15160851 chr17:15160836-15160845
24	STAT3	chr17:15160579-15160755	MCF10A-Er-Src	breast:	n/a	n/a
25	RAD21	chr17:15160583-15160972	SK-N-SH_RA	brain:	n/a	chr17:15160835-15160844 chr17:15160710-15160729 chr17:15160834-15160853
26	SMC3	chr17:15160601-15161055	Hela-S3	cervix:	n/a	chr17:15160835-15160849 chr17:15160835-15160843
27	YY1	chr17:15160653-15160914	HepG2	liver:	n/a	n/a
28	CTCF	chr17:15160622-15160982	H1-hESC	embryonic stem cell:	n/a	chr17:15160714-15160727 chr17:15160835-15160856 chr17:15160833-15160851 chr17:15160836-15160845
29	CTCF	chr17:15160629-15161062	K562	blood:	n/a	chr17:15160714-15160727 chr17:15160835-15160856 chr17:15160833-15160851 chr17:15160836-15160845
30	CTCF	chr17:15160570-15161092	GM12878	blood:	n/a	chr17:15160714-15160727 chr17:15160835-15160856 chr17:15160833-15160851 chr17:15160836-15160845
31	MAX	chr17:15160500-15161092	SK-N-SH	brain:	n/a	chr17:15160755-15160764
32	CTCF	chr17:15160571-15161109	HepG2	liver:	n/a	chr17:15160714-15160727 chr17:15160835-15160856 chr17:15160833-15160851 chr17:15160836-15160845
33	POLR2A	chr17:15160561-15161147	U87	brain:	n/a	n/a
34	MAX	chr17:15160332-15161165	H1-hESC	embryonic stem cell:	n/a	chr17:15160755-15160764
35	RAD21	chr17:15160597-15161211	H1-hESC	embryonic stem cell:	n/a	chr17:15160835-15160844 chr17:15160710-15160729 chr17:15160834-15160853
36	POLR2A	chr17:15160571-15160976	HCT-116	colon:	n/a	n/a
37	FOSL2	chr17:15160521-15161080	A549	lung:	n/a	chr17:15160818-15160826 chr17:15160683-15160697 chr17:15160817-15160827 chr17:15160817-15160827 chr17:15160817-15160827 chr17:15160816-15160828
38	TCF12	chr17:15160424-15161238	SK-N-SH	brain:	n/a	chr17:15160839-15160846
39	POLR2A	chr17:15160586-15161055	HUVEC	blood vessel:	n/a	n/a
40	MYC	chr17:15160415-15160929	H1-hESC	embryonic stem cell:	n/a	chr17:15160755-15160764
41	CTCF	chr17:15160025-15161610	SK-N-SH	brain:	n/a	chr17:15160714-15160727 chr17:15160835-15160856 chr17:15160833-15160851 chr17:15160836-15160845
42	RAD21	chr17:15160652-15161035	A549	lung:	n/a	chr17:15160835-15160844 chr17:15160710-15160729 chr17:15160834-15160853
43	NFIC	chr17:15160504-15161085	SK-N-SH	brain:	n/a	n/a
44	GATA1	chr17:15159948-15161150	PBDE	blood:	n/a	chr17:15160488-15160495 chr17:15160488-15160495 chr17:15160620-15160630 chr17:15160488-15160495 chr17:15160483-15160499 chr17:15160481-15160502 chr17:15160486-15160496
45	CTCF	chr17:15160554-15161031	T-47D	breast:	n/a	chr17:15160714-15160727 chr17:15160835-15160856 chr17:15160833-15160851 chr17:15160836-15160845
46	YY1	chr17:15160645-15161004	GM12878	blood:	n/a	n/a
47	ZC3H11A	chr17:15160462-15160848	K562	blood:	n/a	n/a
48	CTCF	chr17:15160630-15161027	K562	blood:	n/a	chr17:15160714-15160727 chr17:15160835-15160856 chr17:15160833-15160851 chr17:15160836-15160845
49	RCOR1	chr17:15160584-15160968	HepG2	liver:	n/a	n/a
50	CTCF	chr17:15160372-15161061	K562	blood:	n/a	chr17:15160714-15160727 chr17:15160835-15160856 chr17:15160833-15160851 chr17:15160836-15160845

No.	Distal block	Cell Line	Cell type
1	chr17:15160307..15161319-chr17:15405440..15406372,3	MCF-7	breast:
2	chr17:15160379..15161319-chr17:15405087..15406751,8	MCF-7	breast:
3	chr17:15160221..15161628-chr17:15311846..15312796,5	MCF-7	breast:
4	chr17:15154649..15157419-chr17:15157540..15162043,4	MCF-7	breast:
5	chr17:15160328..15163541-chr17:15164433..15167437,4	K562	blood:
6	chr17:15136101..15136735-chr17:15160377..15161235,2	MCF-7	breast:
7	chr17:15158560..15160723-chr17:15400595..15402410,2	K562	blood:
8	chr17:15160238..15161489-chr17:15311841..15313089,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000265445	TF binding region
ENSG00000265110	Chromatin interaction
ENSG00000109099	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs6502446	1.00[TSI][hapmap]
rs7207667	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7222599	1.00[TSI][hapmap]
rs9893338	1.00[EUR][1000 genomes]
rs9894454	1.00[TSI][hapmap]
rs9899940	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9900407	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9901981	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9901999	0.91[YRI][hapmap];0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066329	chr17:14983674-15294071	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS 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 miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv543212	chr17:14983674-15294071	Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	nsv492304	chr17:15043353-15611753	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv916652	chr17:15093600-15856310	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
5	nsv530760	chr17:15152791-15162532	Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases
6	nsv427990	chr17:15154329-15434020	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15155200-15161600	Weak transcription	Esophagus	oesophagus
2	chr17:15157200-15161400	Weak transcription	Gastric	stomach
3	chr17:15157400-15162000	Weak transcription	Small Intestine	intestine
4	chr17:15157600-15163200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr17:15158000-15162000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr17:15158800-15161200	Enhancers	HMEC	breast
7	chr17:15158800-15161800	Strong transcription	Hela-S3	cervix
8	chr17:15159000-15161200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr17:15159000-15161400	Enhancers	NHEK	skin
10	chr17:15159000-15162600	Genic enhancers	Fetal Muscle Trunk	muscle
11	chr17:15159000-15162800	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr17:15159200-15162800	Genic enhancers	HSMMtube	muscle
13	chr17:15159200-15163200	Genic enhancers	Fetal Muscle Leg	muscle
14	chr17:15159400-15161400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr17:15159600-15163000	Genic enhancers	Placenta	Placenta
16	chr17:15159800-15162600	Genic enhancers	Cortex derived primary cultured neurospheres	brain
17	chr17:15160000-15160800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr17:15160000-15161600	Genic enhancers	HUVEC	blood vessel
19	chr17:15160000-15162800	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
20	chr17:15160000-15163000	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr17:15160000-15163200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr17:15160200-15160800	Flanking Active TSS	Brain Angular Gyrus	brain
23	chr17:15160200-15160800	Flanking Active TSS	Fetal Heart	heart
24	chr17:15160200-15160800	Enhancers	Pancreas	Pancrea
25	chr17:15160200-15160800	Flanking Active TSS	Rectal Smooth Muscle	rectum
26	chr17:15160200-15160800	Transcr. at gene 5' and 3'	Right Ventricle	heart
27	chr17:15160200-15161000	Flanking Active TSS	Brain Cingulate Gyrus	brain
28	chr17:15160200-15161000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
29	chr17:15160200-15161000	Enhancers	Spleen	Spleen
30	chr17:15160200-15161200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr17:15160200-15161200	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr17:15160200-15161200	Enhancers	Liver	Liver
33	chr17:15160200-15161200	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
34	chr17:15160200-15161200	Flanking Active TSS	K562	blood
35	chr17:15160200-15161200	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
36	chr17:15160200-15161600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
37	chr17:15160200-15161600	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr17:15160200-15162800	Transcr. at gene 5' and 3'	Adipose Nuclei	Adipose
39	chr17:15160200-15163000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr17:15160200-15163200	Transcr. at gene 5' and 3'	Duodenum Smooth Muscle	Duodenum
41	chr17:15160200-15163200	Genic enhancers	HSMM	muscle
42	chr17:15160200-15163600	Transcr. at gene 5' and 3'	Colon Smooth Muscle	Colon
43	chr17:15160200-15165800	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
44	chr17:15160400-15160800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
45	chr17:15160400-15160800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr17:15160400-15160800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr17:15160400-15160800	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr17:15160400-15160800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr17:15160400-15160800	Transcr. at gene 5' and 3'	Fetal Lung	lung
50	chr17:15160400-15160800	Flanking Active TSS	Psoas Muscle	Psoas

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