Variant report

Variant	rs3756512
Chromosome Location	chr5:118812383-118812384
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:118804681..118808687-chr5:118810812..118814012,4	K562	blood:

Variant related genes	Relation type
ENSG00000239084	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10042168	0.91[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs10043526	0.83[EUR][1000 genomes]
rs10045066	0.91[CHB][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10051019	0.91[CHB][hapmap];0.98[CHD][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs10066302	0.92[ASN][1000 genomes]
rs10069657	0.87[ASN][1000 genomes]
rs10069875	0.91[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10073818	0.90[CHB][hapmap];0.84[JPT][hapmap];0.82[ASN][1000 genomes]
rs10078097	0.91[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10214151	0.83[EUR][1000 genomes]
rs10478425	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10478426	0.90[ASW][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11241506	0.90[CHB][hapmap];0.95[JPT][hapmap];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12653056	0.91[CHB][hapmap];0.97[CHD][hapmap];0.92[GIH][hapmap];0.91[JPT][hapmap];1.00[TSI][hapmap];0.99[ASN][1000 genomes]
rs12653702	0.91[CHB][hapmap];0.92[ASN][1000 genomes]
rs12656474	0.95[CHB][hapmap];0.98[CHD][hapmap];0.92[GIH][hapmap];0.86[JPT][hapmap]
rs12658566	0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13361193	0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13436061	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13436186	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13436451	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2075698	0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2287712	0.91[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs2303003	0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2546210	0.83[JPT][hapmap]
rs257970	0.83[JPT][hapmap]
rs257972	0.85[JPT][hapmap]
rs32662	0.82[JPT][hapmap]
rs34480380	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34554885	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3797360	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3797362	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3797363	0.91[CHB][hapmap];0.98[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3797364	0.86[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs3797365	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3797367	0.91[CHB][hapmap];0.90[JPT][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3797369	0.81[ASN][1000 genomes]
rs3822525	0.87[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3850200	0.91[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs455949	0.82[JPT][hapmap]
rs58263192	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60093682	0.86[EUR][1000 genomes]
rs60146316	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61363907	0.85[ASN][1000 genomes]
rs6881294	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6894991	0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6895345	0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73249951	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7712974	0.92[GIH][hapmap];1.00[TSI][hapmap]
rs9327102	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030717	chr5:118709310-118836951	Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv427732	chr5:118730999-119034741	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv1024455	chr5:118770429-119487982	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118789000-118813200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr5:118789000-118826800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr5:118789200-118813200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr5:118789400-118831200	Weak transcription	NH-A	brain
5	chr5:118789400-118831600	Weak transcription	HSMMtube	muscle
6	chr5:118789600-118813400	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr5:118789600-118813600	Weak transcription	Stomach Smooth Muscle	stomach
8	chr5:118789800-118813800	Weak transcription	Fetal Kidney	kidney
9	chr5:118789800-118814400	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr5:118790000-118812600	Weak transcription	Fetal Brain Male	brain
11	chr5:118790200-118813400	Weak transcription	Aorta	Aorta
12	chr5:118791800-118846600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:118792400-118815000	Weak transcription	K562	blood
14	chr5:118794800-118861200	Weak transcription	HSMM	muscle
15	chr5:118795200-118813400	Weak transcription	Small Intestine	intestine
16	chr5:118804200-118813600	Weak transcription	Colon Smooth Muscle	Colon
17	chr5:118804200-118879600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr5:118804400-118813000	Weak transcription	Colonic Mucosa	Colon
19	chr5:118804400-118813200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr5:118804400-118820000	Weak transcription	NHDF-Ad	bronchial
21	chr5:118804600-118813400	Weak transcription	Right Ventricle	heart
22	chr5:118804600-118818800	Weak transcription	Stomach Mucosa	stomach
23	chr5:118804600-118819400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr5:118804800-118813400	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr5:118804800-118821400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr5:118804800-118837000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr5:118805200-118813400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr5:118805200-118839400	Weak transcription	NHEK	skin
29	chr5:118805400-118812800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr5:118805600-118813000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr5:118805600-118813400	Weak transcription	Fetal Muscle Leg	muscle
32	chr5:118805600-118817200	Weak transcription	Fetal Brain Female	brain
33	chr5:118805800-118813200	Weak transcription	Fetal Lung	lung
34	chr5:118805800-118817000	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr5:118805800-118829400	Weak transcription	Rectal Smooth Muscle	rectum
36	chr5:118806000-118813400	Weak transcription	Fetal Intestine Small	intestine
37	chr5:118806000-118846400	Weak transcription	Esophagus	oesophagus
38	chr5:118806000-118846400	Weak transcription	Spleen	Spleen
39	chr5:118806200-118812800	Weak transcription	Lung	lung
40	chr5:118806200-118813000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr5:118806200-118813200	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr5:118806200-118813400	Weak transcription	Ovary	ovary
43	chr5:118806200-118813600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr5:118806200-118831400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr5:118806200-118844800	Weak transcription	Thymus	Thymus
46	chr5:118806200-118846400	Weak transcription	Pancreas	Pancrea
47	chr5:118806200-118855600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr5:118806400-118813200	Weak transcription	Gastric	stomach
49	chr5:118806400-118815200	Weak transcription	Hela-S3	cervix
50	chr5:118806400-118831200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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