Variant report

Variant	rs538930888
Chromosome Location	chr10:49538849-49538850
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:49525748..49527877-chr10:49536971..49539943,2	K562	blood:
2	chr10:49528331..49530432-chr10:49537117..49539235,2	K562	blood:
3	chr10:49538148..49542508-chr10:49545021..49547777,3	K562	blood:
4	chr10:49512637..49515508-chr10:49536816..49539799,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000107643	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
6	nsv6587	chr10:49526329-49571804	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv947976	chr10:49537663-49541857	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49515600-49541400	Weak transcription	Lung	lung
2	chr10:49516400-49541400	Weak transcription	Right Atrium	heart
3	chr10:49516400-49547200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr10:49516400-49559600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr10:49517800-49544600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr10:49518200-49542200	Weak transcription	HSMM	muscle
7	chr10:49518800-49540600	Weak transcription	NHEK	skin
8	chr10:49518800-49542000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr10:49518800-49544000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr10:49519000-49540200	Weak transcription	HMEC	breast
11	chr10:49520200-49549800	Weak transcription	HUVEC	blood vessel
12	chr10:49522800-49539200	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr10:49522800-49550800	Weak transcription	Small Intestine	intestine
14	chr10:49525000-49541600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr10:49525800-49551800	Weak transcription	Adipose Nuclei	Adipose
16	chr10:49526000-49539600	Weak transcription	Primary B cells from peripheral blood	blood
17	chr10:49526200-49552000	Weak transcription	NH-A	brain
18	chr10:49526600-49539000	Weak transcription	Fetal Brain Female	brain
19	chr10:49529000-49550800	Weak transcription	K562	blood
20	chr10:49529400-49539600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr10:49529800-49539000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr10:49530200-49540800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr10:49530800-49554600	Weak transcription	Fetal Brain Male	brain
24	chr10:49534600-49540200	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr10:49535000-49541800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr10:49535200-49541400	Weak transcription	Esophagus	oesophagus
27	chr10:49535400-49548200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr10:49536400-49540000	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr10:49536600-49539200	Weak transcription	Gastric	stomach
30	chr10:49536800-49539800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr10:49536800-49541800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr10:49536800-49545200	Weak transcription	Brain Angular Gyrus	brain
33	chr10:49537400-49539400	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr10:49537400-49541800	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr10:49537600-49539200	Weak transcription	Pancreas	Pancrea
36	chr10:49537800-49540200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr10:49538200-49539400	Enhancers	Thymus	Thymus
38	chr10:49538400-49539000	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr10:49538400-49539000	Flanking Active TSS	Primary T cells from cord blood	blood
40	chr10:49538400-49539000	Enhancers	Brain Hippocampus Middle	brain
41	chr10:49538400-49539000	Enhancers	Right Ventricle	heart
42	chr10:49538400-49539200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr10:49538400-49539200	Enhancers	Fetal Thymus	thymus
44	chr10:49538400-49539400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr10:49538400-49539600	Enhancers	Primary T killer memory cells from peripheral blood	blood
46	chr10:49538400-49539600	ZNF genes & repeats	GM12878-XiMat	blood
47	chr10:49538400-49541000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
48	chr10:49538400-49541000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
49	chr10:49538400-49541200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr10:49538400-49541200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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