Variant report

Variant	rs9296118
Chromosome Location	chr6:34523697-34523698
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:34204520..34207436-chr6:34522666..34524361,2	K562	blood:
2	chr6:32936553..32938765-chr6:34521756..34523748,2	MCF-7	breast:
3	chr18:50300436..50303454-chr6:34521553..34523812,3	MCF-7	breast:
4	chr6:34205000..34207351-chr6:34521778..34524214,3	MCF-7	breast:
5	chr6:34522438..34524089-chr6:34549801..34552822,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137309	Chromatin interaction
ENSG00000223837	Chromatin interaction
ENSG00000204256	Chromatin interaction
ENSG00000204257	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10947509	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1889733	1.00[AMR][1000 genomes]
rs205271	1.00[AMR][1000 genomes]
rs205272	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs205273	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs205274	1.00[AMR][1000 genomes]
rs205275	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs205277	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs205278	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs205285	1.00[AMR][1000 genomes]
rs206938	1.00[AMR][1000 genomes]
rs2182382	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2395557	1.00[AMR][1000 genomes]
rs2395558	1.00[AMR][1000 genomes]
rs2395563	1.00[AMR][1000 genomes]
rs2395565	1.00[AMR][1000 genomes]
rs2395566	1.00[AMR][1000 genomes]
rs2840286	1.00[AMR][1000 genomes]
rs2894399	1.00[AMR][1000 genomes]
rs3843524	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3846865	1.00[AMR][1000 genomes]
rs3846870	1.00[AMR][1000 genomes]
rs3857561	1.00[AMR][1000 genomes]
rs453919	1.00[AMR][1000 genomes]
rs4713778	1.00[AMR][1000 genomes]
rs4713814	1.00[AMR][1000 genomes]
rs6457780	1.00[AMR][1000 genomes]
rs6457782	1.00[AMR][1000 genomes]
rs6457783	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6908420	1.00[AMR][1000 genomes]
rs6913723	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6918865	1.00[AMR][1000 genomes]
rs6922059	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7760590	1.00[AMR][1000 genomes]
rs7774674	1.00[AMR][1000 genomes]
rs9461986	1.00[AMR][1000 genomes]
rs9469828	1.00[AMR][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	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	nsv1021859	chr6:34515436-34535289	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
23	nsv1033534	chr6:34516588-34555969	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
24	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

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34513200-34524000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr6:34515200-34527600	Weak transcription	Right Atrium	heart
3	chr6:34522000-34524400	Active TSS	Fetal Intestine Large	intestine
4	chr6:34522200-34524000	Active TSS	Fetal Intestine Small	intestine
5	chr6:34522400-34523800	Enhancers	Lung	lung
6	chr6:34522400-34524000	Active TSS	Rectal Smooth Muscle	rectum
7	chr6:34522400-34524400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr6:34522400-34527400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr6:34522600-34524200	Active TSS	Gastric	stomach
10	chr6:34522600-34524200	Active TSS	Stomach Mucosa	stomach
11	chr6:34522800-34524200	Active TSS	Fetal Stomach	stomach
12	chr6:34523000-34523800	Active TSS	Rectal Mucosa Donor 31	rectum
13	chr6:34523000-34524000	Weak transcription	Fetal Muscle Leg	muscle
14	chr6:34523000-34524200	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr6:34523000-34524200	Weak transcription	K562	blood
16	chr6:34523200-34523800	Flanking Active TSS	Colonic Mucosa	Colon
17	chr6:34523200-34524000	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr6:34523200-34524400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr6:34523600-34523800	Flanking Active TSS	A549	lung
20	chr6:34523600-34524000	Active TSS	Duodenum Mucosa	Duodenum
21	chr6:34523600-34524000	Active TSS	Small Intestine	intestine
22	chr6:34523600-34524400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr6:34523600-34525000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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