Variant report

Variant	rs6829479
Chromosome Location	chr4:148720579-148720580
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	chr4:148713641..148716368-chr4:148719518..148721494,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10027921	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10032488	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][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	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13116955	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13136202	0.81[EUR][1000 genomes]
rs1604785	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2118036	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2134706	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]
rs6837391	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:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148708400-148721200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:148709000-148721200	Weak transcription	Lung	lung
3	chr4:148709000-148721400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr4:148709000-148721400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:148709000-148721400	Weak transcription	Esophagus	oesophagus
6	chr4:148710400-148729600	Weak transcription	HSMM	muscle
7	chr4:148711000-148729200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr4:148711600-148721200	Weak transcription	Pancreas	Pancrea
9	chr4:148713000-148721400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr4:148715000-148721000	Weak transcription	Right Atrium	heart
11	chr4:148715200-148721400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr4:148715200-148735200	Weak transcription	Stomach Mucosa	stomach
13	chr4:148715400-148721200	Weak transcription	Gastric	stomach
14	chr4:148715400-148721200	Weak transcription	Ovary	ovary
15	chr4:148715400-148722800	Weak transcription	Fetal Heart	heart
16	chr4:148716000-148722800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr4:148716000-148734800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr4:148716400-148720600	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr4:148716400-148720600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr4:148716400-148720600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr4:148716400-148720800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr4:148716400-148720800	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr4:148716400-148721200	Weak transcription	Small Intestine	intestine
24	chr4:148716600-148732800	Weak transcription	Fetal Intestine Small	intestine
25	chr4:148716800-148721000	Weak transcription	Aorta	Aorta
26	chr4:148718200-148720600	Enhancers	GM12878-XiMat	blood
27	chr4:148719000-148721000	Enhancers	Thymus	Thymus
28	chr4:148719000-148722400	Enhancers	Fetal Thymus	thymus
29	chr4:148719400-148721800	Enhancers	Psoas Muscle	Psoas
30	chr4:148719600-148722200	Enhancers	Right Ventricle	heart
31	chr4:148719800-148721200	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr4:148720000-148721000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr4:148720000-148721600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr4:148720000-148721800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr4:148720000-148721800	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr4:148720000-148722200	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr4:148720000-148724200	Enhancers	Colon Smooth Muscle	Colon
38	chr4:148720000-148724400	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr4:148720200-148720600	Enhancers	Fetal Stomach	stomach
40	chr4:148720200-148720800	Enhancers	Rectal Smooth Muscle	rectum
41	chr4:148720200-148721000	Enhancers	Primary T cells from cord blood	blood
42	chr4:148720200-148721400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr4:148720200-148721400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr4:148720200-148721600	Enhancers	Adipose Nuclei	Adipose
45	chr4:148720200-148721600	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr4:148720200-148721800	Enhancers	Duodenum Mucosa	Duodenum
47	chr4:148720200-148721800	Enhancers	Stomach Smooth Muscle	stomach
48	chr4:148720200-148722000	Enhancers	Primary hematopoietic stem cells	blood
49	chr4:148720200-148722200	Enhancers	Primary T cells fromperipheralblood	blood
50	chr4:148720200-148722200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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