Variant report

Variant	rs17023770
Chromosome Location	chr4:148683500-148683501
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:148681678..148684071-chr4:148684909..148686495,2	MCF-7	breast:
2	chr4:148679061..148682709-chr4:148682971..148685662,3	MCF-7	breast:
3	chr4:148681549..148683602-chr4:148686887..148689104,2	MCF-7	breast:
4	chr4:148682718..148685526-chr4:148687157..148689131,2	K562	blood:
5	chr4:148682484..148684278-chr4:148691381..148693216,2	MCF-7	breast:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10519917	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs11099669	0.84[EUR][1000 genomes]
rs11729081	0.82[TSI][hapmap]
rs11935450	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs11935510	0.85[JPT][hapmap]
rs11935620	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs11940379	0.82[JPT][hapmap]
rs11944579	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12640660	0.94[TSI][hapmap]
rs12645249	0.82[TSI][hapmap]
rs13134018	0.80[EUR][1000 genomes]
rs13136202	0.85[JPT][hapmap]
rs17023845	0.85[JPT][hapmap]
rs17023846	0.85[JPT][hapmap]
rs17023870	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs2055551	0.84[EUR][1000 genomes]
rs2134706	0.82[TSI][hapmap]
rs6535558	0.84[EUR][1000 genomes]
rs6535559	0.84[EUR][1000 genomes]
rs6818043	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6822971	0.83[CHD][hapmap];0.85[JPT][hapmap];0.94[TSI][hapmap];0.84[EUR][1000 genomes]
rs6839987	0.82[EUR][1000 genomes]
rs6845560	0.83[CHD][hapmap];0.85[JPT][hapmap];0.88[TSI][hapmap];0.84[EUR][1000 genomes]
rs7673234	0.84[EUR][1000 genomes]
rs7673606	0.84[EUR][1000 genomes]
rs9332471	0.88[TSI][hapmap];0.80[EUR][1000 genomes]
rs964170	0.82[TSI][hapmap]

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:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148663600-148688800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr4:148670200-148693200	Weak transcription	Esophagus	oesophagus
3	chr4:148677600-148689000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr4:148677800-148686600	Weak transcription	Duodenum Mucosa	Duodenum
5	chr4:148677800-148688800	Weak transcription	NH-A	brain
6	chr4:148678000-148685200	Weak transcription	NHDF-Ad	bronchial
7	chr4:148678000-148686000	Weak transcription	NHEK	skin
8	chr4:148678000-148686400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr4:148678000-148689000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr4:148678000-148689200	Weak transcription	HSMMtube	muscle
11	chr4:148678000-148693200	Weak transcription	Adipose Nuclei	Adipose
12	chr4:148678200-148685000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr4:148678200-148686400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr4:148678200-148688800	Weak transcription	Osteobl	bone
15	chr4:148678800-148685000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr4:148679000-148686800	Weak transcription	Right Ventricle	heart
17	chr4:148679200-148685000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr4:148679200-148685800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr4:148679200-148689200	Weak transcription	Gastric	stomach
20	chr4:148679200-148689200	Weak transcription	NHLF	lung
21	chr4:148679200-148693000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr4:148679200-148693000	Weak transcription	Aorta	Aorta
23	chr4:148679200-148696400	Weak transcription	Lung	lung
24	chr4:148681200-148683600	Enhancers	Rectal Smooth Muscle	rectum
25	chr4:148681200-148683600	Enhancers	Stomach Smooth Muscle	stomach
26	chr4:148682000-148684600	Weak transcription	Pancreas	Pancrea
27	chr4:148682000-148685000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr4:148682000-148688800	Weak transcription	Fetal Intestine Small	intestine
29	chr4:148682000-148689000	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr4:148682000-148689000	Weak transcription	A549	lung
31	chr4:148682200-148684000	Weak transcription	Fetal Heart	heart
32	chr4:148682200-148688800	Weak transcription	HSMM	muscle
33	chr4:148682200-148693000	Weak transcription	Fetal Muscle Trunk	muscle
34	chr4:148682400-148684600	Weak transcription	Right Atrium	heart
35	chr4:148682400-148685200	Weak transcription	Psoas Muscle	Psoas
36	chr4:148682400-148685200	Weak transcription	Stomach Mucosa	stomach
37	chr4:148682400-148687000	Weak transcription	Fetal Muscle Leg	muscle
38	chr4:148682400-148692400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr4:148682600-148684000	Weak transcription	Small Intestine	intestine
40	chr4:148682600-148685000	Weak transcription	Ovary	ovary
41	chr4:148682800-148689000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr4:148683000-148685200	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr4:148683000-148689200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr4:148683000-148689200	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr4:148683200-148684000	Enhancers	Left Ventricle	heart
46	chr4:148683200-148684200	Weak transcription	Fetal Kidney	kidney
47	chr4:148683200-148685000	Weak transcription	Colon Smooth Muscle	Colon
48	chr4:148683200-148688800	Weak transcription	GM12878-XiMat	blood
49	chr4:148683400-148689200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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