Variant report

Variant	rs10011222
Chromosome Location	chr4:147441065-147441066
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:147433100..147434679-chr4:147439045..147441227,2	K562	blood:
2	chr4:147438639..147441130-chr4:147443226..147445590,2	MCF-7	breast:
3	chr4:147419888..147422305-chr4:147440124..147442502,3	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10001383	0.81[EUR][1000 genomes]
rs10012310	0.83[EUR][1000 genomes]
rs10017463	0.81[EUR][1000 genomes]
rs10018860	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10024266	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10026558	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10030464	0.81[EUR][1000 genomes]
rs10032453	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11100926	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11726588	0.81[EUR][1000 genomes]
rs11726594	0.82[EUR][1000 genomes]
rs11727219	0.81[EUR][1000 genomes]
rs11734649	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11940327	0.91[EUR][1000 genomes]
rs13105153	0.81[EUR][1000 genomes]
rs13110748	0.80[EUR][1000 genomes]
rs13134417	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13134849	0.85[EUR][1000 genomes]
rs13149918	0.80[EUR][1000 genomes]
rs13151354	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13435029	0.82[EUR][1000 genomes]
rs17769016	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3849037	0.92[EUR][1000 genomes]
rs3914627	0.84[EUR][1000 genomes]
rs3914629	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4835037	0.83[EUR][1000 genomes]
rs4835040	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4835307	0.81[EUR][1000 genomes]
rs4835310	0.83[EUR][1000 genomes]
rs4835312	0.83[EUR][1000 genomes]
rs4835313	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4835314	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4835315	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4835316	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6537419	0.81[EUR][1000 genomes]
rs6537421	0.81[EUR][1000 genomes]
rs6537424	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6537425	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6537426	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6815417	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6816737	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6819042	0.81[EUR][1000 genomes]
rs6829209	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6837453	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6846498	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6849958	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7435019	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7437083	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7439061	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7439429	0.83[EUR][1000 genomes]
rs7687182	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7687917	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9992118	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9995307	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9995820	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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
8	esv3376036	chr4:147439502-147441500	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:147404200-147441800	Weak transcription	Right Ventricle	heart
2	chr4:147407000-147441800	Weak transcription	Aorta	Aorta
3	chr4:147407200-147441800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr4:147408200-147441400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr4:147408200-147442200	Weak transcription	Spleen	Spleen
6	chr4:147409400-147441200	Weak transcription	Fetal Stomach	stomach
7	chr4:147410400-147441200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr4:147412600-147441200	Weak transcription	Brain Substantia Nigra	brain
9	chr4:147416000-147441400	Weak transcription	Small Intestine	intestine
10	chr4:147416000-147442000	Weak transcription	Gastric	stomach
11	chr4:147417600-147441400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr4:147417600-147442200	Weak transcription	Esophagus	oesophagus
13	chr4:147417800-147442000	Weak transcription	Pancreas	Pancrea
14	chr4:147420600-147441400	Weak transcription	Fetal Brain Male	brain
15	chr4:147423200-147442000	Weak transcription	Placenta	Placenta
16	chr4:147423200-147442000	Weak transcription	Fetal Thymus	thymus
17	chr4:147423400-147441200	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr4:147424400-147441200	Weak transcription	Fetal Kidney	kidney
19	chr4:147424400-147441800	Weak transcription	HSMM	muscle
20	chr4:147425200-147441200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr4:147430000-147441400	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr4:147430200-147441200	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr4:147430600-147442200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr4:147433000-147442200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr4:147433800-147441800	Weak transcription	Fetal Intestine Small	intestine
26	chr4:147436400-147441200	Weak transcription	Brain Hippocampus Middle	brain
27	chr4:147436400-147441200	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr4:147436600-147441400	Weak transcription	Stomach Smooth Muscle	stomach
29	chr4:147436800-147441400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr4:147437000-147441200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr4:147437000-147441400	Weak transcription	Fetal Muscle Leg	muscle
32	chr4:147437000-147442000	Weak transcription	Lung	lung
33	chr4:147437200-147442000	Weak transcription	Left Ventricle	heart
34	chr4:147437600-147441400	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr4:147438400-147442000	Weak transcription	Fetal Muscle Trunk	muscle
36	chr4:147438800-147442000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr4:147439200-147444400	Active TSS	GM12878-XiMat	blood
38	chr4:147439400-147441800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr4:147439800-147441400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr4:147439800-147441800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr4:147440000-147441200	Enhancers	Brain Anterior Caudate	brain
42	chr4:147440400-147441800	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr4:147440600-147441200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr4:147440600-147441200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr4:147440600-147441200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr4:147440600-147441200	Enhancers	Hela-S3	cervix
47	chr4:147440600-147441200	Enhancers	NHLF	lung
48	chr4:147440600-147441400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr4:147440600-147441400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr4:147440600-147441400	Enhancers	Liver	Liver

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