Variant report

Variant	rs10236585
Chromosome Location	chr7:39995305-39995306
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:39992254..39999333-chr7:39999543..40002599,8	K562	blood:
2	chr7:39994702..39997445-chr7:39998087..39999888,2	MCF-7	breast:
3	chr7:39992179..39995720-chr7:40011134..40014847,3	K562	blood:
4	chr7:39993833..39995767-chr7:39996251..39998539,2	MCF-7	breast:

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10228050	1.00[EUR][1000 genomes]
rs10241287	1.00[EUR][1000 genomes]
rs10241835	1.00[EUR][1000 genomes]
rs10244506	1.00[EUR][1000 genomes]
rs10256280	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10256385	1.00[EUR][1000 genomes]
rs10257242	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10258115	1.00[EUR][1000 genomes]
rs10259564	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10267751	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10270724	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10271401	1.00[EUR][1000 genomes]
rs10275367	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1060299	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17171630	1.00[EUR][1000 genomes]
rs17171636	0.85[AFR][1000 genomes]
rs17171639	1.00[EUR][1000 genomes]
rs17171643	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17171644	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17171648	1.00[EUR][1000 genomes]
rs17171649	1.00[EUR][1000 genomes]
rs17496395	1.00[EUR][1000 genomes]
rs17537831	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17538020	1.00[EUR][1000 genomes]
rs28374865	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28714188	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28823992	1.00[EUR][1000 genomes]
rs56885787	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56890877	1.00[EUR][1000 genomes]
rs57300694	1.00[EUR][1000 genomes]
rs57667402	1.00[EUR][1000 genomes]
rs57765448	1.00[EUR][1000 genomes]
rs58787667	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59146346	1.00[EUR][1000 genomes]
rs59537889	1.00[EUR][1000 genomes]
rs59749446	1.00[EUR][1000 genomes]
rs60101070	1.00[EUR][1000 genomes]
rs60615872	1.00[EUR][1000 genomes]
rs60806836	1.00[EUR][1000 genomes]
rs61635237	1.00[EUR][1000 genomes]
rs6462957	1.00[EUR][1000 genomes]
rs6462958	1.00[EUR][1000 genomes]
rs6462960	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6946176	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6953989	1.00[EUR][1000 genomes]
rs6955589	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6958792	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6964473	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6965022	1.00[EUR][1000 genomes]
rs6973262	1.00[EUR][1000 genomes]
rs6976377	1.00[EUR][1000 genomes]
rs73381425	1.00[EUR][1000 genomes]
rs73381435	1.00[EUR][1000 genomes]
rs73381438	1.00[EUR][1000 genomes]
rs73381440	1.00[EUR][1000 genomes]
rs73381453	1.00[EUR][1000 genomes]
rs73392755	0.80[AFR][1000 genomes]
rs73392765	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7794028	1.00[EUR][1000 genomes]
rs7809754	1.00[EUR][1000 genomes]
rs9655408	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv887973	chr7:39772654-40110720	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
2	nsv887975	chr7:39858378-40124137	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
3	nsv887976	chr7:39874986-40018693	Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
4	nsv887977	chr7:39885541-40018693	ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39988200-39996200	Active TSS	GM12878-XiMat	blood
2	chr7:39991800-39996200	Weak transcription	Esophagus	oesophagus
3	chr7:39991800-40000200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:39991800-40000800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:39991800-40005200	Weak transcription	Lung	lung
6	chr7:39992000-39999200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr7:39992000-40006400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr7:39992400-39995600	Flanking Active TSS	Dnd41	blood
9	chr7:39992600-40001200	Weak transcription	Placenta	Placenta
10	chr7:39993200-39997200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:39993400-39995400	Enhancers	Primary B cells from peripheral blood	blood
12	chr7:39993400-40000000	Weak transcription	Fetal Thymus	thymus
13	chr7:39993400-40001000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:39993600-39995400	Enhancers	Adipose Nuclei	Adipose
15	chr7:39993600-39995400	Enhancers	Brain Anterior Caudate	brain
16	chr7:39993600-39995400	Enhancers	Brain Hippocampus Middle	brain
17	chr7:39993600-39995800	Enhancers	Brain Angular Gyrus	brain
18	chr7:39993600-39996200	Weak transcription	Left Ventricle	heart
19	chr7:39993600-39996200	Weak transcription	Right Ventricle	heart
20	chr7:39993600-39996600	Enhancers	Liver	Liver
21	chr7:39993600-39999800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr7:39993600-40000000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr7:39993600-40048200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr7:39993800-39995800	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr7:39993800-39997600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr7:39993800-40000000	Weak transcription	HSMMtube	muscle
27	chr7:39993800-40000800	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr7:39993800-40000800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr7:39994000-39995400	Enhancers	HepG2	liver
30	chr7:39994000-40000800	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr7:39994200-39995800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr7:39994200-39996200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr7:39994200-39997000	Weak transcription	NHLF	lung
34	chr7:39994200-39997200	Enhancers	Duodenum Mucosa	Duodenum
35	chr7:39994200-39998000	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr7:39994200-39999400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr7:39994200-40008000	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr7:39994200-40027200	Weak transcription	HSMM	muscle
39	chr7:39994400-39998000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr7:39994400-40000600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr7:39994600-39995800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr7:39994600-40000800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr7:39994600-40000800	Weak transcription	Thymus	Thymus
44	chr7:39994600-40009000	Weak transcription	HMEC	breast
45	chr7:39994800-39995600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr7:39994800-39996200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr7:39994800-39996200	Weak transcription	Fetal Intestine Large	intestine
48	chr7:39994800-39997600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr7:39994800-39999200	Weak transcription	NHDF-Ad	bronchial
50	chr7:39994800-39999400	Weak transcription	Colonic Mucosa	Colon

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