Variant report

Variant	rs4646925
Chromosome Location	chr6:34852546-34852547
allele	C/T
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	chr6:34852000-34852629	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:34834250..34837156-chr6:34851105..34853013,3	MCF-7	breast:
2	chr6:34843479..34847323-chr6:34849401..34853884,4	MCF-7	breast:
3	chr6:34837346..34838981-chr6:34850648..34853394,2	K562	blood:

Variant related genes	Relation type
ANKS1A	TF binding region

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs16894959	0.82[GIH][hapmap]
rs1997775	1.00[CEU][hapmap];1.00[CHD][hapmap]
rs2504163	1.00[CEU][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap]
rs2504165	1.00[CEU][hapmap]
rs2689090	1.00[CEU][hapmap]
rs6902912	0.92[YRI][hapmap];0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6939345	0.84[YRI][hapmap]
rs73421507	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs847854	1.00[CEU][hapmap]
rs847855	1.00[CEU][hapmap]
rs9296137	1.00[ASW][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9296138	1.00[ASN][1000 genomes]
rs9296140	1.00[CEU][hapmap]
rs9462007	0.89[GIH][hapmap]
rs9462014	0.89[GIH][hapmap]
rs9462016	1.00[CEU][hapmap]
rs9462032	1.00[ASN][1000 genomes]
rs9469919	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs9469923	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9469925	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9469926	1.00[CEU][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022844	chr6:34317219-35060519	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv538195	chr6:34317219-35060519	Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv885785	chr6:34404636-34874002	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv885793	chr6:34520267-34886436	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	esv2763967	chr6:34566255-34925463	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
6	nsv1020710	chr6:34607214-34890143	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	nsv870010	chr6:34713359-34880048	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
8	nsv1025374	chr6:34723723-34887316	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
9	nsv462905	chr6:34728253-34886436	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	30 gene(s)	inside rSNPs	diseases
10	nsv602906	chr6:34728253-34886436	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	30 gene(s)	inside rSNPs	diseases
11	nsv1028363	chr6:34733071-34859045	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	30 gene(s)	inside rSNPs	diseases
12	nsv1015792	chr6:34741917-34887316	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	30 gene(s)	inside rSNPs	diseases
13	nsv1021733	chr6:34751052-34887316	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	30 gene(s)	inside rSNPs	diseases
14	nsv1026121	chr6:34786887-34961360	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
15	nsv885797	chr6:34791027-34980601	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
16	nsv1033135	chr6:34802652-34957093	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
17	nsv508402	chr6:34840961-34951288	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	17 gene(s)	inside rSNPs	diseases
18	esv1811041	chr6:34851134-34856501	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	n/a
19	esv1802115	chr6:34852176-34856501	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34816800-34853600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:34818600-34853400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr6:34820200-34855000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr6:34821000-34854600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr6:34830000-34855000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr6:34834400-34853600	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr6:34835800-34855200	Weak transcription	Small Intestine	intestine
8	chr6:34840800-34854800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:34841400-34854600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr6:34841400-34855200	Weak transcription	Fetal Heart	heart
11	chr6:34841600-34854600	Weak transcription	Fetal Kidney	kidney
12	chr6:34842600-34854800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr6:34844000-34854000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr6:34844000-34854800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr6:34844600-34853400	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr6:34844600-34854600	Weak transcription	Psoas Muscle	Psoas
17	chr6:34845000-34854600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr6:34845200-34853800	Weak transcription	Fetal Brain Male	brain
19	chr6:34845400-34854600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr6:34846600-34854600	Weak transcription	HMEC	breast
21	chr6:34847600-34854600	Weak transcription	Right Ventricle	heart
22	chr6:34848000-34853600	Weak transcription	Fetal Brain Female	brain
23	chr6:34848000-34854400	Weak transcription	Stomach Smooth Muscle	stomach
24	chr6:34848000-34854600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr6:34848000-34854600	Weak transcription	Brain Germinal Matrix	brain
26	chr6:34848000-34854600	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr6:34848000-34854600	Weak transcription	Thymus	Thymus
28	chr6:34848000-34854600	Weak transcription	HSMMtube	muscle
29	chr6:34848000-34854600	Weak transcription	NHLF	lung
30	chr6:34848000-34854800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr6:34848000-34854800	Weak transcription	Gastric	stomach
32	chr6:34848200-34853400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr6:34848200-34853400	Weak transcription	Pancreas	Pancrea
34	chr6:34848200-34854000	Weak transcription	Fetal Muscle Leg	muscle
35	chr6:34848200-34854000	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr6:34848200-34854000	Weak transcription	NHEK	skin
37	chr6:34848200-34854400	Weak transcription	Colonic Mucosa	Colon
38	chr6:34848200-34854600	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr6:34848200-34854600	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr6:34848200-34854600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr6:34848200-34854600	Weak transcription	Brain Angular Gyrus	brain
42	chr6:34848200-34854600	Weak transcription	Brain Hippocampus Middle	brain
43	chr6:34848200-34854600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr6:34848200-34854600	Weak transcription	Fetal Muscle Trunk	muscle
45	chr6:34848200-34854600	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr6:34848200-34854600	Weak transcription	Rectal Smooth Muscle	rectum
47	chr6:34848200-34854600	Weak transcription	Spleen	Spleen
48	chr6:34848200-34854600	Weak transcription	A549	lung
49	chr6:34848200-34854800	Weak transcription	Esophagus	oesophagus
50	chr6:34848200-34854800	Weak transcription	Left Ventricle	heart

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