Variant report

Variant	rs62473141
Chromosome Location	chr7:111962627-111962628
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:111953427..111955871-chr7:111961966..111964536,3	K562	blood:
2	chr7:111930275..111932583-chr7:111961875..111964299,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs2006275	0.87[EUR][1000 genomes]
rs2016864	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2396531	0.87[EUR][1000 genomes]
rs2396532	0.83[EUR][1000 genomes]
rs4425678	0.87[EUR][1000 genomes]
rs62473060	0.92[AMR][1000 genomes]
rs62473127	0.92[AMR][1000 genomes]
rs62473129	0.92[AMR][1000 genomes]
rs62473137	0.92[AMR][1000 genomes]
rs62473139	0.92[AMR][1000 genomes]
rs62473143	0.87[EUR][1000 genomes]
rs62473145	0.87[EUR][1000 genomes]
rs62473146	0.87[EUR][1000 genomes]
rs62473147	0.87[EUR][1000 genomes]
rs62473148	0.87[EUR][1000 genomes]
rs62473149	0.87[EUR][1000 genomes]
rs62473150	0.87[EUR][1000 genomes]
rs62473152	0.87[EUR][1000 genomes]
rs62473153	0.87[EUR][1000 genomes]
rs62473154	0.87[EUR][1000 genomes]
rs62473156	0.87[EUR][1000 genomes]
rs62473157	0.87[EUR][1000 genomes]
rs62473960	0.87[EUR][1000 genomes]
rs62474000	0.87[EUR][1000 genomes]
rs62474001	0.87[EUR][1000 genomes]
rs62474003	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62474007	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62474009	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62474010	0.83[AMR][1000 genomes]
rs62474011	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62474012	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62474014	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6960155	0.87[EUR][1000 genomes]
rs6971079	0.87[EUR][1000 genomes]
rs73440635	0.85[AMR][1000 genomes]
rs736760	0.87[EUR][1000 genomes]
rs739746	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491934	chr7:111333900-111975504	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv532335	chr7:111411990-112054905	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
4	esv2764032	chr7:111938590-111963829	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1020212	chr7:111944370-112032596	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv5902	chr7:111952128-111997265	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111913200-111965200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:111918000-111963000	Weak transcription	Aorta	Aorta
3	chr7:111923600-111964600	Weak transcription	Esophagus	oesophagus
4	chr7:111923600-111964800	Weak transcription	Gastric	stomach
5	chr7:111926200-111979600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr7:111926600-111982200	Weak transcription	Right Ventricle	heart
7	chr7:111926800-111964800	Weak transcription	Lung	lung
8	chr7:111927200-111965000	Weak transcription	Brain Anterior Caudate	brain
9	chr7:111927400-111964800	Weak transcription	Fetal Stomach	stomach
10	chr7:111928600-111978000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr7:111930800-111965200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr7:111931000-111981000	Weak transcription	HSMMtube	muscle
13	chr7:111934000-111965200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr7:111938000-111965000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr7:111939200-111964600	Weak transcription	Left Ventricle	heart
16	chr7:111940000-111964800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr7:111941000-111963200	Weak transcription	Fetal Brain Male	brain
18	chr7:111943000-111978600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr7:111943000-111985200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr7:111945200-111965000	Weak transcription	Pancreas	Pancrea
21	chr7:111945200-111986800	Weak transcription	Hela-S3	cervix
22	chr7:111947400-111981000	Weak transcription	Brain Angular Gyrus	brain
23	chr7:111950200-111963000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:111950200-111965000	Weak transcription	GM12878-XiMat	blood
25	chr7:111950200-111967400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr7:111950400-111963000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr7:111950400-111965200	Weak transcription	Fetal Intestine Small	intestine
28	chr7:111950600-111962800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr7:111952600-111965200	Weak transcription	Fetal Muscle Trunk	muscle
30	chr7:111954600-111964600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr7:111954800-111964800	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr7:111955000-111963000	Weak transcription	Thymus	Thymus
33	chr7:111956200-111965000	Weak transcription	Brain Substantia Nigra	brain
34	chr7:111956200-111977200	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr7:111956200-111982400	Weak transcription	Brain Cingulate Gyrus	brain
36	chr7:111956200-111983200	Weak transcription	Brain Hippocampus Middle	brain
37	chr7:111957000-111965000	Weak transcription	Colonic Mucosa	Colon
38	chr7:111957400-111980200	Weak transcription	NHDF-Ad	bronchial
39	chr7:111957600-111965000	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr7:111957600-111967600	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr7:111957800-111980200	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr7:111958200-111963200	Weak transcription	Rectal Smooth Muscle	rectum
43	chr7:111958200-111963600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr7:111958200-111963600	Strong transcription	Primary B cells from peripheral blood	blood
45	chr7:111958400-111966200	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr7:111958600-111966000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr7:111958600-111968600	Strong transcription	Dnd41	blood
48	chr7:111958800-111963000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr7:111958800-111963800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr7:111958800-111968000	Strong transcription	Primary hematopoietic stem cells	blood

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