Variant report

Variant	rs9469057
Chromosome Location	chr6:31779728-31779729
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:122)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HEY1	chr6:31779455-31779732	K562	blood:	n/a	n/a
2	POLR2A	chr6:31779568-31779735	GM12878	blood:	n/a	n/a
3	POLR2A	chr6:31779461-31779790	H1-hESC	embryonic stem cell:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:31779716-31779766	CMK	blood:	n/a
2	chr6:31779716-31779766	Jurkat	blood:	n/a
3	chr6:31779728-31779778	H1-hESC	embryonic stem cell:	embryo
4	chr6:31779728-31779778	GM12891	blood:	n/a
5	chr6:31779716-31779766	AG10803	skin:	n/a
6	chr6:31779728-31779778	HIPEpiC	eye:	n/a
7	chr6:31779716-31779766	HL-60	blood:	n/a
8	chr6:31779716-31779766	NHDF-neo	bronchial:	n/a
9	chr6:31779716-31779766	PANC-1	pancreas:	n/a
10	chr6:31779716-31779766	SKMC	muscle:	n/a
11	chr6:31779728-31779778	HCF	heart:	n/a
12	chr6:31779728-31779778	ProgFib	skin:	n/a
13	chr6:31779728-31779778	NHDF-neo	bronchial:	n/a
14	chr6:31779716-31779766	HEK293	kidney:	embryo
15	chr6:31779728-31779778	ovcar-3	ovarian:	n/a
16	chr6:31779728-31779778	AG04450	lung:	fetal
17	chr6:31779716-31779766	HRPEpiC	eye:	n/a
18	chr6:31779728-31779778	HL-60	blood:	n/a
19	chr6:31779716-31779766	U87	brain:	n/a
20	chr6:31779716-31779766	K562	blood:	n/a
21	chr6:31779716-31779766	SK-N-SH_RA	brain:	n/a
22	chr6:31779728-31779778	NH-A	brain:	n/a
23	chr6:31779728-31779778	AG10803	skin:	n/a
24	chr6:31779728-31779778	HRE	kidney:	n/a
25	chr6:31779716-31779766	ECC-1	luminal epithelium:	n/a
26	chr6:31779728-31779778	MCF10A-Er-Src	breast:	n/a
27	chr6:31779728-31779778	LNCaP	prostate:	n/a
28	chr6:31779728-31779778	Jurkat	blood:	n/a
29	chr6:31779728-31779778	GM12878	blood:	n/a
30	chr6:31779728-31779778	NT2-D1	testis:	n/a
31	chr6:31779728-31779778	GM12892	blood:	n/a
32	chr6:31779728-31779778	IMR90	lung:	fetal
33	chr6:31779728-31779778	HNPCEpiC	eye:	n/a
34	chr6:31779716-31779766	GM12892	blood:	n/a
35	chr6:31779728-31779778	AoSMC	blood vessel:	n/a
36	chr6:31779716-31779766	SK-N-MC	brain:	n/a
37	chr6:31779728-31779778	T-47D	breast:	n/a
38	chr6:31779716-31779766	HPAEpiC	pulmonary alveolar:	n/a
39	chr6:31779716-31779766	A549	lung:	n/a
40	chr6:31779716-31779766	RPTEC	kidney:	n/a
41	chr6:31779716-31779766	HNPCEpiC	eye:	n/a
42	chr6:31779728-31779778	SK-N-MC	brain:	n/a
43	chr6:31779716-31779766	ovcar-3	ovarian:	n/a
44	chr6:31779716-31779766	GM19239	blood:	n/a
45	chr6:31779716-31779766	GM06990	blood:	n/a
46	chr6:31779728-31779778	MCF-7	breast:	n/a
47	chr6:31779716-31779766	MCF10A-Er-Src	breast:	n/a
48	chr6:31779716-31779766	AG09309	skin:	n/a
49	chr6:31779728-31779778	Hepatocyte	liver:	n/a
50	chr6:31779728-31779778	SAEC	small airway:	n/a

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:31778125..31780067-chr6:31938272..31940991,2	MCF-7	breast:

No data

Variant related genes	Relation type
HSPA1A	TF binding region
LSM2	TF binding region
LSM2	CpG island
HSPA1A	CpG island
ENSG00000204348	Chromatin interaction
ENSG00000204344	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs28589703	0.90[ASN][1000 genomes]
rs56280220	0.82[ASN][1000 genomes]
rs9296002	1.00[EUR][1000 genomes]
rs9461715	1.00[EUR][1000 genomes]
rs9461725	0.86[AFR][1000 genomes]
rs9461727	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9469031	1.00[EUR][1000 genomes]
rs9469032	1.00[EUR][1000 genomes]
rs9469041	1.00[EUR][1000 genomes]
rs9469043	1.00[EUR][1000 genomes]
rs9469059	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9469062	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9501157	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv601609	chr6:31280101-31799786	Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	332 gene(s)	inside rSNPs	diseases
2	nsv601610	chr6:31280101-31960770	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	370 gene(s)	inside rSNPs	diseases
3	nsv601628	chr6:31280327-31990098	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	376 gene(s)	inside rSNPs	diseases
4	nsv601629	chr6:31280327-31996185	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	376 gene(s)	inside rSNPs	diseases
5	nsv601630	chr6:31280327-32011317	Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	378 gene(s)	inside rSNPs	diseases
6	nsv601631	chr6:31280327-32017540	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	378 gene(s)	inside rSNPs	diseases
7	nsv1023939	chr6:31325961-32026747	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	372 gene(s)	inside rSNPs	diseases
8	nsv538188	chr6:31325961-32026747	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	372 gene(s)	inside rSNPs	diseases
9	nsv1021747	chr6:31386219-31907266	Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	330 gene(s)	inside rSNPs	diseases
10	nsv1033154	chr6:31550614-32009410	Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	326 gene(s)	inside rSNPs	diseases
11	nsv1017945	chr6:31609641-32481240	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
12	esv3428142	chr6:31615800-31881809	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	257 gene(s)	inside rSNPs	diseases
13	nsv884426	chr6:31728102-31800868	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
14	nsv884427	chr6:31728102-31802465	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
15	nsv884428	chr6:31728102-31870326	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
16	nsv884429	chr6:31730356-31837066	Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	155 gene(s)	inside rSNPs	diseases
17	nsv884430	chr6:31731881-31800631	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
18	nsv823503	chr6:31778269-31779736	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
19	nsv462872	chr6:31778272-31864304	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
20	nsv601945	chr6:31778272-31864304	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
21	nsv981359	chr6:31779004-31797103	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	111 gene(s)	inside rSNPs	diseases
22	nsv869989	chr6:31779203-31797657	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	114 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31774600-31780600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr6:31774600-31781400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr6:31774600-31781600	Weak transcription	Aorta	Aorta
4	chr6:31774800-31780800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr6:31774800-31781000	Weak transcription	Psoas Muscle	Psoas
6	chr6:31774800-31781200	Weak transcription	Spleen	Spleen
7	chr6:31774800-31781400	Weak transcription	Brain Angular Gyrus	brain
8	chr6:31774800-31781400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr6:31774800-31781400	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr6:31774800-31781800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr6:31774800-31781800	Weak transcription	Pancreas	Pancrea
12	chr6:31774800-31782600	Weak transcription	Lung	lung
13	chr6:31774800-31783000	Weak transcription	Gastric	stomach
14	chr6:31775000-31780600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr6:31775000-31780600	Weak transcription	HMEC	breast
16	chr6:31775000-31781200	Weak transcription	HSMMtube	muscle
17	chr6:31775000-31781400	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr6:31775000-31781600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr6:31775000-31781600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr6:31775000-31781600	Weak transcription	Colonic Mucosa	Colon
21	chr6:31775000-31781600	Weak transcription	Right Atrium	heart
22	chr6:31775200-31780200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr6:31775200-31780600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr6:31775200-31781000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr6:31775200-31781000	Weak transcription	Fetal Muscle Trunk	muscle
26	chr6:31775200-31781000	Weak transcription	Stomach Mucosa	stomach
27	chr6:31775200-31781200	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr6:31775200-31781400	Weak transcription	Brain Anterior Caudate	brain
29	chr6:31775200-31781400	Weak transcription	Brain Substantia Nigra	brain
30	chr6:31775200-31781400	Weak transcription	Duodenum Mucosa	Duodenum
31	chr6:31775200-31781400	Weak transcription	Fetal Intestine Large	intestine
32	chr6:31775200-31781400	Weak transcription	Fetal Intestine Small	intestine
33	chr6:31775200-31781400	Weak transcription	Fetal Kidney	kidney
34	chr6:31775200-31781400	Weak transcription	Rectal Smooth Muscle	rectum
35	chr6:31775200-31781600	Weak transcription	Fetal Lung	lung
36	chr6:31775400-31780200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr6:31775400-31780400	Weak transcription	Primary B cells from cord blood	blood
38	chr6:31775400-31780600	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr6:31775400-31780800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr6:31775400-31781000	Weak transcription	Fetal Thymus	thymus
41	chr6:31775400-31781200	Weak transcription	Adipose Nuclei	Adipose
42	chr6:31775400-31781200	Weak transcription	Fetal Brain Male	brain
43	chr6:31775600-31780800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr6:31775600-31781200	Weak transcription	Fetal Muscle Leg	muscle
45	chr6:31775600-31781800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr6:31775800-31781400	Weak transcription	Brain Germinal Matrix	brain
47	chr6:31775800-31781600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr6:31776000-31780400	Weak transcription	K562	blood
49	chr6:31777200-31781400	Weak transcription	Liver	Liver
50	chr6:31777600-31781200	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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