Variant report

Variant	rs4729757
Chromosome Location	chr7:101519889-101519890
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:101458815..101461009-chr7:101518835..101520620,2	K562	blood:
2	chr7:101241906..101244609-chr7:101517882..101520597,2	MCF-7	breast:
3	chr7:101512083..101520283-chr7:101521327..101527237,12	K562	blood:
4	chr7:101512493..101515121-chr7:101518914..101521779,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257923	Chromatin interaction

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

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

rs_ID	r²[population]
rs10227516	0.81[AMR][1000 genomes]
rs10242019	0.89[AMR][1000 genomes]
rs10275899	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12532535	0.82[AMR][1000 genomes]
rs12539310	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13236072	0.82[AMR][1000 genomes]
rs13241079	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2410921	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28409703	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34750675	0.85[AMR][1000 genomes]
rs4729756	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4729758	0.83[AFR][1000 genomes]
rs60656667	0.82[AMR][1000 genomes]
rs72603509	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72603510	0.85[AMR][1000 genomes]
rs72603512	0.82[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	nsv1024319	chr7:101368299-101668159	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv539047	chr7:101368299-101668159	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv1020372	chr7:101420819-101718950	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101501000-101523600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr7:101501000-101525000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr7:101509000-101522600	Weak transcription	Primary T cells from cord blood	blood
4	chr7:101511600-101523400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr7:101511800-101523600	Weak transcription	Primary B cells from peripheral blood	blood
6	chr7:101512200-101524000	Weak transcription	NHLF	lung
7	chr7:101513200-101523600	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr7:101513400-101523400	Weak transcription	Small Intestine	intestine
9	chr7:101513600-101522600	Weak transcription	Liver	Liver
10	chr7:101513600-101525200	Weak transcription	Spleen	Spleen
11	chr7:101514200-101521200	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr7:101514200-101522200	Weak transcription	HepG2	liver
13	chr7:101514200-101523800	Weak transcription	Fetal Kidney	kidney
14	chr7:101514400-101521200	Weak transcription	Gastric	stomach
15	chr7:101514400-101521200	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr7:101514400-101527400	Weak transcription	GM12878-XiMat	blood
17	chr7:101514600-101524000	Weak transcription	Fetal Stomach	stomach
18	chr7:101514800-101520400	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr7:101514800-101521200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr7:101514800-101521200	Weak transcription	Fetal Intestine Large	intestine
21	chr7:101514800-101523400	Weak transcription	Hela-S3	cervix
22	chr7:101514800-101523600	Weak transcription	NHEK	skin
23	chr7:101514800-101525200	Weak transcription	Esophagus	oesophagus
24	chr7:101514800-101525400	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr7:101515000-101520400	Weak transcription	Right Ventricle	heart
26	chr7:101515000-101521200	Weak transcription	Pancreas	Pancrea
27	chr7:101515000-101521200	Weak transcription	K562	blood
28	chr7:101517400-101521200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr7:101517400-101522400	Weak transcription	Primary hematopoietic stem cells	blood
30	chr7:101517600-101520000	Strong transcription	Fetal Intestine Small	intestine
31	chr7:101517600-101520200	Enhancers	Left Ventricle	heart
32	chr7:101517600-101524000	Weak transcription	Osteobl	bone
33	chr7:101517800-101521200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr7:101518000-101521200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr7:101518000-101521200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr7:101518000-101523400	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr7:101518000-101524000	Weak transcription	NHDF-Ad	bronchial
38	chr7:101518200-101521200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr7:101518200-101521400	Weak transcription	Lung	lung
40	chr7:101518200-101523200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr7:101518200-101524000	Weak transcription	Primary B cells from cord blood	blood
42	chr7:101518400-101522200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr7:101518400-101523600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr7:101518400-101523600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr7:101518400-101526000	Weak transcription	Dnd41	blood
46	chr7:101518600-101520400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr7:101518800-101520200	Enhancers	Placenta	Placenta
48	chr7:101518800-101521400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr7:101518800-101523600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr7:101518800-101523800	Weak transcription	Duodenum Smooth Muscle	Duodenum

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