Variant report

Variant	rs6815417
Chromosome Location	chr4:147437850-147437851
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:147437110..147440734-chr4:147441059..147444351,6	K562	blood:
2	chr4:147429340..147432833-chr4:147435168..147439356,4	K562	blood:

Variant related genes	Relation type
ENSG00000120519	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10001383	0.87[EUR][1000 genomes]
rs10011222	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10012310	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10017463	0.86[EUR][1000 genomes]
rs10018860	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10024266	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10026558	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10030464	0.87[EUR][1000 genomes]
rs10032453	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11100926	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11726588	0.87[EUR][1000 genomes]
rs11726594	0.88[EUR][1000 genomes]
rs11727219	0.87[EUR][1000 genomes]
rs11734649	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11940327	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12711436	0.83[AFR][1000 genomes]
rs13105153	0.87[EUR][1000 genomes]
rs13110748	0.86[EUR][1000 genomes]
rs13134417	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13134849	0.91[EUR][1000 genomes]
rs13149918	0.86[EUR][1000 genomes]
rs13151354	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13435029	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17769016	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3849037	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3914627	0.88[EUR][1000 genomes]
rs3914629	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4835037	0.89[EUR][1000 genomes]
rs4835040	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4835307	0.87[EUR][1000 genomes]
rs4835310	0.88[EUR][1000 genomes]
rs4835312	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4835313	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4835314	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4835315	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4835316	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6537419	0.87[EUR][1000 genomes]
rs6537421	0.87[EUR][1000 genomes]
rs6537423	0.83[EUR][1000 genomes]
rs6537424	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6537425	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6537426	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6812728	0.85[EUR][1000 genomes]
rs6816737	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6819042	0.87[EUR][1000 genomes]
rs6829209	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6837453	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6846498	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6849958	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7435019	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7437083	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7439061	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7439429	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7687182	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7687917	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9992118	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9995307	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9995820	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461675	chr4:147116864-147768206	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv595651	chr4:147116864-147768206	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1033640	chr4:147232217-147531881	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv917053	chr4:147265436-147499653	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1023868	chr4:147265443-147531626	Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
6	nsv537293	chr4:147265443-147531626	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
7	nsv428453	chr4:147335953-147457115	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:147403800-147440600	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr4:147404200-147441800	Weak transcription	Right Ventricle	heart
3	chr4:147405400-147440600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr4:147405600-147440800	Weak transcription	Fetal Intestine Large	intestine
5	chr4:147407000-147441800	Weak transcription	Aorta	Aorta
6	chr4:147407200-147441800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr4:147408200-147441400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr4:147408200-147442200	Weak transcription	Spleen	Spleen
9	chr4:147408600-147440800	Weak transcription	Fetal Brain Female	brain
10	chr4:147409400-147441200	Weak transcription	Fetal Stomach	stomach
11	chr4:147410400-147441000	Weak transcription	Brain Germinal Matrix	brain
12	chr4:147410400-147441200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr4:147410800-147439600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr4:147412400-147441000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr4:147412600-147441200	Weak transcription	Brain Substantia Nigra	brain
16	chr4:147416000-147441400	Weak transcription	Small Intestine	intestine
17	chr4:147416000-147442000	Weak transcription	Gastric	stomach
18	chr4:147416600-147440600	Weak transcription	NH-A	brain
19	chr4:147416800-147439800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr4:147417000-147440600	Weak transcription	Fetal Heart	heart
21	chr4:147417000-147440800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr4:147417400-147440600	Weak transcription	HMEC	breast
23	chr4:147417600-147439800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr4:147417600-147440600	Weak transcription	NHLF	lung
25	chr4:147417600-147441000	Weak transcription	NHDF-Ad	bronchial
26	chr4:147417600-147441400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr4:147417600-147442200	Weak transcription	Esophagus	oesophagus
28	chr4:147417800-147440600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr4:147417800-147440800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr4:147417800-147442000	Weak transcription	Pancreas	Pancrea
31	chr4:147420600-147441400	Weak transcription	Fetal Brain Male	brain
32	chr4:147421200-147440800	Weak transcription	Colon Smooth Muscle	Colon
33	chr4:147421400-147440600	Weak transcription	HepG2	liver
34	chr4:147423000-147440800	Weak transcription	Ovary	ovary
35	chr4:147423200-147442000	Weak transcription	Placenta	Placenta
36	chr4:147423200-147442000	Weak transcription	Fetal Thymus	thymus
37	chr4:147423400-147441200	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr4:147424400-147441200	Weak transcription	Fetal Kidney	kidney
39	chr4:147424400-147441800	Weak transcription	HSMM	muscle
40	chr4:147425000-147439600	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr4:147425000-147440600	Weak transcription	Thymus	Thymus
42	chr4:147425000-147440600	Weak transcription	NHEK	skin
43	chr4:147425000-147440800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr4:147425200-147440800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr4:147425200-147441200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr4:147430000-147441400	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr4:147430200-147441200	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr4:147430400-147439800	Weak transcription	Psoas Muscle	Psoas
49	chr4:147430600-147442200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr4:147431000-147439800	Weak transcription	Dnd41	blood

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