Variant report

Variant	rs7912402
Chromosome Location	chr10:50385038-50385039
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:50384432..50385996-chr10:50507928..50509644,2	K562	blood:
2	chr10:50372843..50375654-chr10:50384413..50387038,2	MCF-7	breast:
3	chr10:50384969..50387621-chr10:50504946..50509741,4	K562	blood:

Variant related genes	Relation type
ENSG00000177354	Chromatin interaction
ENSG00000204161	Chromatin interaction
ENSG00000236208	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10776544	1.00[CEU][hapmap];0.81[CHB][hapmap];0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11101006	0.84[CEU][hapmap]
rs11101017	0.83[ASN][1000 genomes]
rs12411415	0.95[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs12768927	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs1962336	0.83[CEU][hapmap]
rs2002332	0.84[EUR][1000 genomes]
rs6537507	0.83[CEU][hapmap]
rs7082074	0.84[CEU][hapmap]
rs7910476	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7922957	0.94[CHB][hapmap];0.86[JPT][hapmap];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv534410	chr10:50317458-50826916	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50372800-50386200	Weak transcription	Pancreas	Pancrea
2	chr10:50373200-50385200	Weak transcription	Colon Smooth Muscle	Colon
3	chr10:50376800-50395200	Enhancers	Primary B cells from peripheral blood	blood
4	chr10:50378000-50386000	Enhancers	Fetal Muscle Leg	muscle
5	chr10:50378000-50388600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr10:50380200-50385200	Weak transcription	HSMMtube	muscle
7	chr10:50380400-50386600	Enhancers	Right Ventricle	heart
8	chr10:50380600-50386400	Enhancers	Fetal Muscle Trunk	muscle
9	chr10:50381800-50394800	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr10:50382200-50386600	Enhancers	Left Ventricle	heart
11	chr10:50382200-50390000	Enhancers	K562	blood
12	chr10:50382800-50385600	Enhancers	Right Atrium	heart
13	chr10:50383400-50385600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr10:50383400-50386200	Enhancers	Placenta	Placenta
15	chr10:50383400-50386600	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr10:50383400-50395200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr10:50383800-50387200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr10:50384000-50386200	Enhancers	Colonic Mucosa	Colon
19	chr10:50384000-50386600	Enhancers	NHDF-Ad	bronchial
20	chr10:50384200-50385200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
21	chr10:50384200-50385600	Enhancers	Duodenum Mucosa	Duodenum
22	chr10:50384200-50386000	Enhancers	Brain Anterior Caudate	brain
23	chr10:50384200-50386200	Bivalent Enhancer	Fetal Stomach	stomach
24	chr10:50384200-50386400	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr10:50384200-50386600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr10:50384200-50386600	Enhancers	Lung	lung
27	chr10:50384200-50387000	Enhancers	Adipose Nuclei	Adipose
28	chr10:50384200-50387000	Enhancers	Brain Substantia Nigra	brain
29	chr10:50384200-50389600	Enhancers	Primary B cells from cord blood	blood
30	chr10:50384400-50386200	Enhancers	Brain Angular Gyrus	brain
31	chr10:50384400-50386800	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr10:50384400-50396000	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr10:50384600-50386000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr10:50384600-50386400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr10:50384600-50386600	Enhancers	Primary T cells fromperipheralblood	blood
36	chr10:50384600-50387200	Enhancers	Dnd41	blood
37	chr10:50384800-50385400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
38	chr10:50384800-50385400	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr10:50384800-50385800	Flanking Active TSS	GM12878-XiMat	blood
40	chr10:50384800-50386000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr10:50384800-50386000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr10:50384800-50386000	Enhancers	Fetal Thymus	thymus
43	chr10:50384800-50386200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
44	chr10:50384800-50386200	Enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr10:50384800-50386400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr10:50384800-50386400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr10:50384800-50386400	Enhancers	NHLF	lung
48	chr10:50384800-50386600	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr10:50384800-50386600	Enhancers	Rectal Mucosa Donor 29	rectum
50	chr10:50384800-50387600	Enhancers	Primary monocytes fromperipheralblood	blood

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