Variant report

Variant	rs56844739
Chromosome Location	chr7:39631086-39631087
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:39629985..39632213-chr7:39633896..39637546,5	K562	blood:
2	chr7:39630501..39633434-chr7:39759020..39762831,5	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11983705	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11983755	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16870185	0.82[EUR][1000 genomes]
rs16880070	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs16880073	1.00[EUR][1000 genomes]
rs17171605	1.00[EUR][1000 genomes]
rs17171606	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2329409	1.00[EUR][1000 genomes]
rs2876857	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2876859	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2876860	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4236361	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4236362	1.00[EUR][1000 genomes]
rs4236363	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4720332	0.90[EUR][1000 genomes]
rs4723886	1.00[EUR][1000 genomes]
rs4723890	0.90[EUR][1000 genomes]
rs4723896	0.82[EUR][1000 genomes]
rs56895888	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59434915	0.90[EUR][1000 genomes]
rs60565944	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6948816	0.90[EUR][1000 genomes]
rs6949371	0.90[EUR][1000 genomes]
rs6963428	0.90[EUR][1000 genomes]
rs73377388	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73379304	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73689214	0.90[EUR][1000 genomes]
rs73689251	0.90[EUR][1000 genomes]
rs73689252	0.90[EUR][1000 genomes]
rs73689294	0.82[EUR][1000 genomes]
rs7788924	0.90[EUR][1000 genomes]
rs7789326	0.82[EUR][1000 genomes]
rs7805611	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021180	chr7:39424988-39642261	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1026951	chr7:39429036-39642261	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1018430	chr7:39455497-39643569	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv887970	chr7:39587912-39688152	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv966713	chr7:39629620-39638513	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39607000-39631400	Weak transcription	Aorta	Aorta
2	chr7:39618400-39633000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:39626400-39635800	Enhancers	HUVEC	blood vessel
4	chr7:39627000-39633200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr7:39628000-39631200	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr7:39629400-39631600	Weak transcription	NHLF	lung
7	chr7:39629400-39637000	Weak transcription	Stomach Mucosa	stomach
8	chr7:39629600-39631600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr7:39629600-39632000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:39629600-39632200	Weak transcription	HMEC	breast
11	chr7:39629600-39632400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr7:39629600-39640400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr7:39629600-39641800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr7:39629800-39631400	Enhancers	K562	blood
15	chr7:39629800-39631600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr7:39629800-39631800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr7:39629800-39632000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr7:39629800-39632000	Weak transcription	GM12878-XiMat	blood
19	chr7:39629800-39632000	Weak transcription	NH-A	brain
20	chr7:39629800-39632000	Weak transcription	NHEK	skin
21	chr7:39629800-39634600	Weak transcription	Adipose Nuclei	Adipose
22	chr7:39630000-39631200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr7:39630000-39631200	Weak transcription	NHDF-Ad	bronchial
24	chr7:39630000-39631400	Weak transcription	HSMMtube	muscle
25	chr7:39630000-39631800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr7:39630000-39631800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr7:39630200-39631400	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr7:39630200-39631800	Weak transcription	Osteobl	bone
29	chr7:39630200-39632000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr7:39630200-39632400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr7:39630400-39631600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr7:39630600-39632000	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr7:39630600-39633200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr7:39630800-39631800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr7:39630800-39632400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr7:39631000-39632400	Enhancers	HSMM	muscle

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