Variant report

Variant	rs7070529
Chromosome Location	chr10:49517647-49517648
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:49516260..49519086-chr10:49729762..49732585,2	K562	blood:
2	chr10:49517027..49519236-chr10:49642083..49643882,2	K562	blood:
3	chr10:49516332..49518147-chr10:49551001..49553402,2	MCF-7	breast:
4	chr10:49517538..49519332-chr10:49540338..49542175,2	MCF-7	breast:
5	chr10:49516511..49518164-chr10:49717889..49719391,2	K562	blood:

Variant related genes	Relation type
ENSG00000128805	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1009477	0.95[YRI][hapmap];0.86[AFR][1000 genomes]
rs11101287	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11101291	0.90[YRI][hapmap];0.93[AFR][1000 genomes]
rs11101297	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs11101303	0.86[AFR][1000 genomes]
rs11101316	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs11101319	0.94[YRI][hapmap]
rs12241466	0.87[AFR][1000 genomes]
rs12244705	0.84[AFR][1000 genomes]
rs12253926	0.84[AFR][1000 genomes]
rs12261651	1.00[YRI][hapmap]
rs12266878	0.95[YRI][hapmap];0.84[AFR][1000 genomes]
rs59115521	0.84[AFR][1000 genomes]
rs60051862	0.91[AFR][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	nsv895366	chr10:49299274-49576454	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv895368	chr10:49381635-49551560	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv467190	chr10:49402084-49576878	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv550811	chr10:49402084-49576878	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv550812	chr10:49484698-49524715	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49515600-49525600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr10:49515600-49541400	Weak transcription	Lung	lung
3	chr10:49515800-49518200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr10:49515800-49522200	Weak transcription	Aorta	Aorta
5	chr10:49516000-49517800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr10:49516000-49518200	Enhancers	HSMM	muscle
7	chr10:49516000-49518800	Enhancers	Primary T cells from cord blood	blood
8	chr10:49516000-49518800	Enhancers	Duodenum Mucosa	Duodenum
9	chr10:49516000-49519400	Enhancers	Liver	Liver
10	chr10:49516000-49521000	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr10:49516000-49524600	Weak transcription	Stomach Mucosa	stomach
12	chr10:49516000-49525400	Weak transcription	Left Ventricle	heart
13	chr10:49516000-49525600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr10:49516000-49525600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr10:49516200-49518000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr10:49516200-49524400	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr10:49516400-49517800	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr10:49516400-49518200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr10:49516400-49518200	Enhancers	NHDF-Ad	bronchial
20	chr10:49516400-49518400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr10:49516400-49518400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr10:49516400-49518400	Enhancers	HUVEC	blood vessel
23	chr10:49516400-49518600	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr10:49516400-49519000	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr10:49516400-49519600	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr10:49516400-49519800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr10:49516400-49521800	Weak transcription	Right Ventricle	heart
28	chr10:49516400-49525400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr10:49516400-49525600	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr10:49516400-49525600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr10:49516400-49525600	Weak transcription	Brain Anterior Caudate	brain
32	chr10:49516400-49526400	Weak transcription	Brain Substantia Nigra	brain
33	chr10:49516400-49528000	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr10:49516400-49528600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr10:49516400-49535000	Weak transcription	Fetal Muscle Leg	muscle
36	chr10:49516400-49538400	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr10:49516400-49538800	Weak transcription	Fetal Muscle Trunk	muscle
38	chr10:49516400-49541400	Weak transcription	Right Atrium	heart
39	chr10:49516400-49547200	Weak transcription	Brain Cingulate Gyrus	brain
40	chr10:49516400-49559600	Weak transcription	Rectal Smooth Muscle	rectum
41	chr10:49516600-49517800	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr10:49516600-49517800	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr10:49516600-49518200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr10:49516600-49518200	Genic enhancers	K562	blood
45	chr10:49516600-49518200	Enhancers	NHLF	lung
46	chr10:49516600-49518400	Weak transcription	Ovary	ovary
47	chr10:49516600-49519200	Enhancers	Small Intestine	intestine
48	chr10:49516600-49519800	Weak transcription	Primary hematopoietic stem cells	blood
49	chr10:49516600-49520000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr10:49516600-49520000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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