Variant report

Variant	rs788658
Chromosome Location	chr4:119254553-119254554
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:119200823..119205436-chr4:119252231..119259407,8	K562	blood:
2	chr4:119203054..119205344-chr4:119252768..119255256,2	MCF-7	breast:
3	chr4:119200823..119203757-chr4:119253741..119255718,2	K562	blood:
4	chr4:119252868..119254896-chr4:119257055..119260006,2	K562	blood:

Extended variants
information (count: 130 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:121)

rs_ID	r²[population]
rs10000812	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10008049	0.81[ASN][1000 genomes]
rs10015232	0.81[ASN][1000 genomes]
rs10016285	0.81[ASN][1000 genomes]
rs10021781	0.81[ASN][1000 genomes]
rs10023699	0.81[ASN][1000 genomes]
rs10033412	0.83[ASN][1000 genomes]
rs1022287	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1022288	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1040105	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10440400	0.81[ASN][1000 genomes]
rs11098427	0.81[ASN][1000 genomes]
rs11098428	0.81[ASN][1000 genomes]
rs1110948	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11937777	0.83[ASN][1000 genomes]
rs11947071	0.83[ASN][1000 genomes]
rs12505156	0.85[ASN][1000 genomes]
rs12711064	0.81[ASN][1000 genomes]
rs13111697	0.81[ASN][1000 genomes]
rs13124806	0.90[ASN][1000 genomes]
rs13134901	0.81[ASN][1000 genomes]
rs1514657	1.00[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap];0.80[YRI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1514659	1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs1810260	0.83[ASN][1000 genomes]
rs2049362	0.85[ASN][1000 genomes]
rs2140475	0.84[ASN][1000 genomes]
rs2389620	0.98[AFR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2892799	0.85[ASN][1000 genomes]
rs4131600	0.81[ASN][1000 genomes]
rs4240316	0.83[ASN][1000 genomes]
rs4240317	0.83[ASN][1000 genomes]
rs4240318	0.83[ASN][1000 genomes]
rs4279285	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4280816	0.83[ASN][1000 genomes]
rs4362895	0.85[ASN][1000 genomes]
rs4397073	0.81[ASN][1000 genomes]
rs4452509	0.83[ASN][1000 genomes]
rs4546313	0.90[ASN][1000 genomes]
rs4566725	0.83[ASN][1000 genomes]
rs4569819	0.83[ASN][1000 genomes]
rs4576085	0.83[ASN][1000 genomes]
rs4616829	0.83[ASN][1000 genomes]
rs4833560	0.81[ASN][1000 genomes]
rs4833561	0.81[ASN][1000 genomes]
rs4833563	0.81[ASN][1000 genomes]
rs4833566	0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs4833567	0.90[ASN][1000 genomes]
rs4834657	0.83[ASN][1000 genomes]
rs4834660	0.81[ASN][1000 genomes]
rs4834661	0.81[ASN][1000 genomes]
rs4834664	0.81[ASN][1000 genomes]
rs4834665	0.81[ASN][1000 genomes]
rs4834679	1.00[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap];0.80[YRI][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4834681	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs581739	0.91[ASN][1000 genomes]
rs582448	0.93[JPT][hapmap];0.92[ASN][1000 genomes]
rs586073	0.93[JPT][hapmap];0.91[ASN][1000 genomes]
rs586224	0.93[JPT][hapmap];0.91[ASN][1000 genomes]
rs593966	0.91[ASN][1000 genomes]
rs597881	0.91[ASN][1000 genomes]
rs59799599	0.82[EUR][1000 genomes]
rs607961	0.90[ASN][1000 genomes]
rs608228	0.92[ASN][1000 genomes]
rs610222	0.90[ASN][1000 genomes]
rs613083	0.93[JPT][hapmap];0.91[ASN][1000 genomes]
rs613443	0.91[ASN][1000 genomes]
rs615165	0.86[ASN][1000 genomes]
rs615837	0.88[ASN][1000 genomes]
rs617140	1.00[CEU][hapmap];0.87[CHB][hapmap];0.93[JPT][hapmap];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62328865	0.91[ASN][1000 genomes]
rs62328871	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs625546	0.89[ASN][1000 genomes]
rs627249	0.86[CHB][hapmap];0.93[JPT][hapmap];0.92[ASN][1000 genomes]
rs641962	0.91[ASN][1000 genomes]
rs644797	0.86[ASN][1000 genomes]
rs662086	0.91[ASN][1000 genomes]
rs674514	0.91[ASN][1000 genomes]
rs678177	0.90[ASN][1000 genomes]
rs6810739	0.88[ASN][1000 genomes]
rs6820061	0.83[ASN][1000 genomes]
rs6820108	0.80[ASN][1000 genomes]
rs6823125	0.81[ASN][1000 genomes]
rs6823295	0.81[ASN][1000 genomes]
rs6825105	0.83[ASN][1000 genomes]
rs6828232	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6828552	0.81[ASN][1000 genomes]
rs6837896	0.85[ASN][1000 genomes]
rs6838716	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6848037	0.83[ASN][1000 genomes]
rs6848598	0.83[ASN][1000 genomes]
rs6857041	0.81[ASN][1000 genomes]
rs6857232	0.81[ASN][1000 genomes]
rs705838	0.86[CHB][hapmap];0.93[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs705841	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7435948	0.81[ASN][1000 genomes]
rs7669243	0.83[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs7671232	0.83[ASN][1000 genomes]
rs7671359	0.83[ASN][1000 genomes]
rs7671434	0.81[ASN][1000 genomes]
rs7671515	0.83[ASN][1000 genomes]
rs7671562	0.83[ASN][1000 genomes]
rs7685325	0.81[ASN][1000 genomes]
rs7688951	0.80[EUR][1000 genomes]
rs7695706	0.83[ASN][1000 genomes]
rs7699653	0.84[ASN][1000 genomes]
rs788647	0.82[CEU][hapmap];0.85[JPT][hapmap];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs788650	1.00[CEU][hapmap];0.87[CHB][hapmap];0.93[JPT][hapmap];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs788651	1.00[CEU][hapmap];0.83[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs788654	1.00[CEU][hapmap]
rs788655	1.00[CEU][hapmap];0.87[CHB][hapmap];0.93[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs788656	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs788661	0.92[ASN][1000 genomes]
rs788662	0.93[JPT][hapmap];0.91[ASN][1000 genomes]
rs788668	1.00[CEU][hapmap];0.87[CHB][hapmap];0.93[JPT][hapmap];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs788669	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs871769	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs871770	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs883998	1.00[CEU][hapmap]
rs908152	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9307452	0.81[ASN][1000 genomes]
rs9995675	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519017	chr4:118828807-119771481	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv1009076	chr4:118949490-119269424	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1001236	chr4:118949490-119271243	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	esv34038	chr4:119035124-119455391	Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv1001138	chr4:119095147-119461837	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv537230	chr4:119095147-119461837	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv1002771	chr4:119125361-119571237	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
8	nsv1003731	chr4:119138262-119506032	Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
9	esv3387502	chr4:119254115-119254618	Weak transcription Strong transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119202800-119267200	Weak transcription	Stomach Mucosa	stomach
2	chr4:119209600-119258600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr4:119210000-119259200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr4:119210200-119258600	Weak transcription	HMEC	breast
5	chr4:119212600-119259200	Weak transcription	NHEK	skin
6	chr4:119220200-119260000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr4:119229000-119267200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr4:119239800-119259200	Weak transcription	Fetal Brain Male	brain
9	chr4:119243800-119259000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr4:119247200-119259200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr4:119249800-119256600	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr4:119250000-119258600	Weak transcription	Osteobl	bone
13	chr4:119250400-119255800	Weak transcription	NHDF-Ad	bronchial
14	chr4:119252800-119259000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr4:119252800-119261200	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr4:119253000-119258600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr4:119253000-119262200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr4:119253800-119256600	Weak transcription	NHLF	lung
19	chr4:119254200-119255800	Weak transcription	Pancreas	Pancrea
20	chr4:119254200-119258600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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