Variant report

Variant	rs71401818
Chromosome Location	chr5:126180489-126180490
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:126180168..126183460-chr5:126365910..126369057,3	K562	blood:

Variant related genes	Relation type
ENSG00000173926	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs11865804	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11866403	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12596070	0.84[EUR][1000 genomes]
rs12596475	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12598248	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12598251	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12598456	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12598945	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12598955	0.85[ASN][1000 genomes]
rs12919296	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12919451	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12920334	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12920529	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12923477	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12923630	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12923637	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12924304	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12925493	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12926402	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12929463	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12929508	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12935541	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13329733	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16970408	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs33998678	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34426756	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34644948	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34692833	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34811595	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34881169	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35285555	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35290416	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35381200	0.83[ASN][1000 genomes]
rs35437297	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35794088	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs36097154	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3813905	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4985413	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4985414	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4985415	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4985546	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4985549	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4985550	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4985551	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4985552	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4985553	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55872380	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56220651	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs57738457	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61170208	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs68049363	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7191249	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7198170	0.80[EUR][1000 genomes]
rs8060584	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8061329	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949054	chr5:125918148-126254480	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv534292	chr5:125993451-126259315	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer 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	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126141200-126181800	Weak transcription	Rectal Smooth Muscle	rectum
2	chr5:126146000-126183200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr5:126146000-126183600	Weak transcription	Left Ventricle	heart
4	chr5:126148200-126182400	Weak transcription	HSMMtube	muscle
5	chr5:126148200-126193200	Weak transcription	Brain Angular Gyrus	brain
6	chr5:126149600-126181400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr5:126151400-126181400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr5:126158000-126204600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr5:126162600-126181200	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr5:126162800-126182000	Weak transcription	Brain Anterior Caudate	brain
11	chr5:126163000-126181600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr5:126163200-126181200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr5:126163600-126181200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr5:126163600-126181200	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr5:126163800-126182200	Weak transcription	Colonic Mucosa	Colon
16	chr5:126163800-126182600	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr5:126163800-126193200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr5:126164000-126182400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr5:126165600-126181400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr5:126166000-126181200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr5:126167200-126181200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr5:126169600-126181400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr5:126169600-126182600	Weak transcription	Placenta	Placenta
24	chr5:126169800-126180600	Weak transcription	Duodenum Mucosa	Duodenum
25	chr5:126169800-126181400	Weak transcription	Fetal Kidney	kidney
26	chr5:126169800-126181400	Weak transcription	Osteobl	bone
27	chr5:126169800-126181600	Weak transcription	HSMM	muscle
28	chr5:126169800-126181600	Weak transcription	NHDF-Ad	bronchial
29	chr5:126169800-126181800	Weak transcription	Fetal Brain Male	brain
30	chr5:126169800-126184800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr5:126170000-126181400	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr5:126170000-126181400	Weak transcription	Adipose Nuclei	Adipose
33	chr5:126170200-126181200	Weak transcription	Fetal Muscle Trunk	muscle
34	chr5:126170200-126182200	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr5:126170200-126183200	Weak transcription	Lung	lung
36	chr5:126170200-126184800	Weak transcription	Spleen	Spleen
37	chr5:126170200-126186800	Weak transcription	NHLF	lung
38	chr5:126170400-126181400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr5:126170400-126181600	Weak transcription	Fetal Intestine Small	intestine
40	chr5:126170800-126181200	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr5:126171000-126181200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr5:126171000-126181600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr5:126171200-126181200	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr5:126171200-126187000	Weak transcription	NH-A	brain
45	chr5:126171400-126181200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr5:126171600-126181400	Weak transcription	Thymus	Thymus
47	chr5:126171800-126181400	Weak transcription	Fetal Stomach	stomach
48	chr5:126171800-126181800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr5:126171800-126182400	Weak transcription	Fetal Brain Female	brain
50	chr5:126171800-126184000	Weak transcription	Brain Germinal Matrix	brain

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