Variant report

Variant	rs17839126
Chromosome Location	chr4:120646960-120646961
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10007021	1.00[EUR][1000 genomes]
rs10012609	1.00[EUR][1000 genomes]
rs10013319	1.00[EUR][1000 genomes]
rs10015250	1.00[EUR][1000 genomes]
rs10024373	1.00[EUR][1000 genomes]
rs10034636	1.00[EUR][1000 genomes]
rs11929853	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11944683	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11947667	1.00[EUR][1000 genomes]
rs12642764	1.00[EUR][1000 genomes]
rs12646486	1.00[EUR][1000 genomes]
rs12648324	1.00[EUR][1000 genomes]
rs12648560	1.00[EUR][1000 genomes]
rs12711079	1.00[EUR][1000 genomes]
rs13106925	0.82[JPT][hapmap]
rs13108160	1.00[EUR][1000 genomes]
rs13121100	1.00[EUR][1000 genomes]
rs13132106	1.00[EUR][1000 genomes]
rs17005622	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17005818	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17005819	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17051362	1.00[EUR][1000 genomes]
rs17051363	1.00[EUR][1000 genomes]
rs17292047	1.00[CHD][hapmap]
rs17358524	1.00[CHD][hapmap]
rs2252946	1.00[EUR][1000 genomes]
rs2253534	1.00[EUR][1000 genomes]
rs2389870	1.00[CHD][hapmap]
rs2389894	1.00[EUR][1000 genomes]
rs2389895	1.00[EUR][1000 genomes]
rs2389896	1.00[EUR][1000 genomes]
rs2389897	1.00[EUR][1000 genomes]
rs2583607	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2583613	1.00[EUR][1000 genomes]
rs2583614	1.00[EUR][1000 genomes]
rs2714959	0.94[ASN][1000 genomes]
rs2714974	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2714982	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2714983	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2714986	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2715017	1.00[EUR][1000 genomes]
rs2715024	1.00[EUR][1000 genomes]
rs2715025	1.00[EUR][1000 genomes]
rs2892872	1.00[EUR][1000 genomes]
rs36100748	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4146267	1.00[EUR][1000 genomes]
rs4450908	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4834796	1.00[EUR][1000 genomes]
rs4834801	1.00[EUR][1000 genomes]
rs58797432	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59755197	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6817975	0.82[JPT][hapmap]
rs6820878	1.00[EUR][1000 genomes]
rs6821083	1.00[EUR][1000 genomes]
rs6843112	1.00[EUR][1000 genomes]
rs6843408	1.00[EUR][1000 genomes]
rs6844952	1.00[EUR][1000 genomes]
rs7441168	1.00[EUR][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	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv532739	chr4:120392824-121098103	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv1010753	chr4:120429028-120684310	Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv537233	chr4:120429028-120684310	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1006572	chr4:120432494-120694243	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv1802546	chr4:120558608-120675026	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1010638	chr4:120586178-120671835	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv1009771	chr4:120590902-120665812	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	esv3446791	chr4:120621398-120649319	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120642800-120650200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:120644200-120650000	Weak transcription	Liver	Liver
3	chr4:120644200-120650000	Weak transcription	Psoas Muscle	Psoas
4	chr4:120645400-120647800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr4:120645800-120647800	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr4:120646200-120647000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr4:120646200-120647400	Enhancers	Aorta	Aorta
8	chr4:120646200-120648800	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr4:120646400-120647000	Weak transcription	Colonic Mucosa	Colon
10	chr4:120646400-120647000	Enhancers	Rectal Mucosa Donor 29	rectum
11	chr4:120646400-120647000	Enhancers	HSMMtube	muscle
12	chr4:120646400-120647200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr4:120646400-120647600	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr4:120646400-120647600	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr4:120646400-120647600	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr4:120646400-120647800	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr4:120646400-120650000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr4:120646400-120651400	Weak transcription	Pancreas	Pancrea
19	chr4:120646600-120648800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr4:120646600-120649400	Enhancers	Osteobl	bone
21	chr4:120646800-120647000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr4:120646800-120647200	Enhancers	Fetal Lung	lung
23	chr4:120646800-120647200	Enhancers	Fetal Muscle Leg	muscle
24	chr4:120646800-120647400	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr4:120646800-120647400	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr4:120646800-120647400	Enhancers	Stomach Mucosa	stomach
27	chr4:120646800-120647600	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr4:120646800-120647600	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr4:120646800-120647600	Enhancers	Colon Smooth Muscle	Colon
30	chr4:120646800-120647800	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr4:120646800-120648200	Enhancers	NHLF	lung
32	chr4:120646800-120648400	Enhancers	HSMM	muscle
33	chr4:120646800-120648800	Enhancers	Muscle Satellite Cultured Cells	--
34	chr4:120646800-120648800	Enhancers	NHDF-Ad	bronchial
35	chr4:120646800-120649000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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