Variant report

Variant	rs6837391
Chromosome Location	chr4:148722083-148722084
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	chr4:148716400..148719081-chr4:148721482..148723868,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10027921	0.94[YRI][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10032488	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10857227	0.94[AFR][1000 genomes]
rs11729081	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12645249	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12648074	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12650280	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13116955	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13136202	0.81[EUR][1000 genomes]
rs1604785	0.86[CHB][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2118036	0.94[YRI][hapmap];0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2134706	0.94[YRI][hapmap];0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4835456	0.88[ASN][1000 genomes]
rs6535561	0.83[AMR][1000 genomes]
rs6829479	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs964170	0.83[AMR][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	nsv1028958	chr4:148377752-148793485	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv498083	chr4:148519825-148917583	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv880242	chr4:148659137-148727355	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148710400-148729600	Weak transcription	HSMM	muscle
2	chr4:148711000-148729200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr4:148715200-148735200	Weak transcription	Stomach Mucosa	stomach
4	chr4:148715400-148722800	Weak transcription	Fetal Heart	heart
5	chr4:148716000-148722800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:148716000-148734800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr4:148716600-148732800	Weak transcription	Fetal Intestine Small	intestine
8	chr4:148719000-148722400	Enhancers	Fetal Thymus	thymus
9	chr4:148719600-148722200	Enhancers	Right Ventricle	heart
10	chr4:148720000-148722200	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr4:148720000-148724200	Enhancers	Colon Smooth Muscle	Colon
12	chr4:148720000-148724400	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr4:148720200-148722200	Enhancers	Primary T cells fromperipheralblood	blood
14	chr4:148720200-148722200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr4:148720200-148722200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr4:148720400-148722200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr4:148720400-148729200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr4:148720600-148729200	Weak transcription	HSMMtube	muscle
19	chr4:148720800-148722800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr4:148721200-148722200	Enhancers	Left Ventricle	heart
21	chr4:148721200-148722200	Enhancers	Lung	lung
22	chr4:148721400-148722200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr4:148721400-148729200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr4:148721600-148722400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr4:148721600-148722800	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr4:148721600-148722800	Weak transcription	Small Intestine	intestine
27	chr4:148721600-148723000	Weak transcription	Aorta	Aorta
28	chr4:148721600-148723000	Weak transcription	Ovary	ovary
29	chr4:148721600-148729200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr4:148721600-148729200	Weak transcription	Adipose Nuclei	Adipose
31	chr4:148721600-148734400	Weak transcription	Fetal Stomach	stomach
32	chr4:148721600-148737200	Weak transcription	Gastric	stomach
33	chr4:148721800-148722200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr4:148721800-148722800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr4:148721800-148722800	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr4:148721800-148723000	Weak transcription	Psoas Muscle	Psoas
37	chr4:148721800-148723600	Weak transcription	Right Atrium	heart
38	chr4:148721800-148723600	Weak transcription	Stomach Smooth Muscle	stomach
39	chr4:148721800-148729400	Weak transcription	Fetal Muscle Leg	muscle
40	chr4:148721800-148729600	Weak transcription	Pancreas	Pancrea
41	chr4:148721800-148735200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr4:148721800-148744200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr4:148722000-148723000	Weak transcription	Thymus	Thymus
44	chr4:148722000-148723800	Enhancers	GM12878-XiMat	blood
45	chr4:148722000-148733000	Weak transcription	Esophagus	oesophagus

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