Variant report

Variant	rs11757517
Chromosome Location	chr6:34514207-34514208
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:34514003..34515621-chr6:34528599..34531450,2	K562	blood:
2	chr6:34514095..34516338-chr6:34543578..34545622,2	MCF-7	breast:
3	chr6:34502047..34504010-chr6:34512836..34514494,2	K562	blood:
4	chr6:34512842..34514603-chr6:34573896..34576620,2	MCF-7	breast:
5	chr6:34490255..34493000-chr6:34512065..34514942,2	K562	blood:
6	chr6:34511760..34514306-chr6:34515453..34517552,2	K562	blood:
7	chr6:34494038..34495878-chr6:34511727..34514586,2	K562	blood:
8	chr6:34507633..34511172-chr6:34512304..34515175,5	K562	blood:
9	chr6:34502654..34506400-chr6:34510960..34515406,9	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000196114	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs3778076	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60385456	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 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	esv2758046	chr6:34382492-34714677	Genic enhancers Enhancers Active TSS Strong transcription Weak transcription Flanking 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 lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	esv2759418	chr6:34382492-34714677	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers 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	37 gene(s)	inside rSNPs	diseases
5	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
6	nsv885786	chr6:34426884-34542662	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
7	esv1813536	chr6:34455242-34545123	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
8	nsv885787	chr6:34458533-34546560	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
9	nsv885788	chr6:34464010-34551912	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
10	nsv1033583	chr6:34471572-34828372	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
11	nsv885789	chr6:34474939-34546560	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
12	nsv1033325	chr6:34482287-34517857	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
13	nsv885790	chr6:34483015-34542662	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
14	nsv885791	chr6:34483015-34546560	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
15	nsv516578	chr6:34483015-34561585	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
16	nsv1022555	chr6:34488209-34517003	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
17	esv1801907	chr6:34492567-34545860	Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
18	nsv1026919	chr6:34495371-34517857	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
19	nsv1016788	chr6:34496002-34529165	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
20	nsv885792	chr6:34507311-34607958	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
21	nsv1023870	chr6:34509776-34544041	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
22	nsv1015306	chr6:34509776-34549107	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
23	nsv1032763	chr6:34509776-34552797	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
24	nsv1025472	chr6:34509776-34555969	Flanking Active TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34511400-34515200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:34511800-34514800	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr6:34512400-34517600	Enhancers	Duodenum Mucosa	Duodenum
4	chr6:34512600-34516000	Enhancers	Fetal Brain Male	brain
5	chr6:34512600-34522200	Enhancers	Stomach Mucosa	stomach
6	chr6:34512800-34517200	Enhancers	Colonic Mucosa	Colon
7	chr6:34513000-34515800	Enhancers	Lung	lung
8	chr6:34513000-34517200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr6:34513000-34521400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr6:34513200-34514600	Enhancers	K562	blood
11	chr6:34513200-34516000	Enhancers	Fetal Intestine Small	intestine
12	chr6:34513200-34524000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr6:34513600-34514400	Enhancers	Colon Smooth Muscle	Colon
14	chr6:34513600-34515400	Enhancers	Hela-S3	cervix
15	chr6:34513600-34515800	Enhancers	Fetal Heart	heart
16	chr6:34513800-34514400	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr6:34513800-34514600	Enhancers	Spleen	Spleen
18	chr6:34513800-34514600	Flanking Active TSS	A549	lung
19	chr6:34513800-34515000	Enhancers	Brain Germinal Matrix	brain
20	chr6:34513800-34515600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr6:34513800-34515800	Enhancers	Fetal Brain Female	brain
22	chr6:34513800-34520600	Enhancers	Gastric	stomach
23	chr6:34514000-34514400	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr6:34514000-34514400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
25	chr6:34514000-34514400	Enhancers	Stomach Smooth Muscle	stomach
26	chr6:34514000-34514600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
27	chr6:34514000-34515200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr6:34514000-34515200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr6:34514000-34515200	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr6:34514000-34515200	Enhancers	Brain Anterior Caudate	brain
31	chr6:34514000-34515200	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr6:34514000-34515200	Enhancers	Fetal Lung	lung
33	chr6:34514000-34515200	Enhancers	Fetal Stomach	stomach
34	chr6:34514000-34515200	Enhancers	Left Ventricle	heart
35	chr6:34514000-34515200	Enhancers	Right Atrium	heart
36	chr6:34514000-34516000	Enhancers	Fetal Intestine Large	intestine
37	chr6:34514000-34516200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr6:34514000-34517800	Enhancers	Fetal Muscle Leg	muscle
39	chr6:34514200-34514400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr6:34514200-34514400	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr6:34514200-34515000	Enhancers	Small Intestine	intestine
42	chr6:34514200-34515200	Enhancers	Muscle Satellite Cultured Cells	--
43	chr6:34514200-34515200	Enhancers	Ovary	ovary
44	chr6:34514200-34515400	Enhancers	Right Ventricle	heart
45	chr6:34514200-34515800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr6:34514200-34515800	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr6:34514200-34516000	Enhancers	Liver	Liver
48	chr6:34514200-34516800	Enhancers	Pancreas	Pancrea

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