Variant report

Variant	rs10430458
Chromosome Location	chr1:159799808-159799809
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr1:159799769-159800552	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:159797954..159800314-chr1:159891463..159894829,3	K562	blood:
2	chr1:159798095..159800005-chr1:159892184..159895160,3	K562	blood:

Variant related genes	Relation type
SLAMF8	TF binding region
ENSG00000158710	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11586456	1.00[CEU][hapmap]
rs11586788	1.00[CEU][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005195	chr1:159452759-159910337	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:159794000-159807400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:159794200-159804600	Weak transcription	Fetal Intestine Small	intestine
3	chr1:159794600-159801000	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr1:159795200-159800200	Enhancers	Spleen	Spleen
5	chr1:159795400-159807200	Weak transcription	Brain Substantia Nigra	brain
6	chr1:159796200-159805000	Weak transcription	Left Ventricle	heart
7	chr1:159796400-159804600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr1:159796600-159803000	Enhancers	HSMMtube	muscle
9	chr1:159797200-159800400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr1:159797200-159813400	Weak transcription	Right Atrium	heart
11	chr1:159797200-159824000	Weak transcription	Gastric	stomach
12	chr1:159797400-159800200	Enhancers	Primary T cells fromperipheralblood	blood
13	chr1:159797400-159800400	Enhancers	Adipose Nuclei	Adipose
14	chr1:159797400-159801000	Enhancers	Placenta	Placenta
15	chr1:159797400-159804400	Weak transcription	Colonic Mucosa	Colon
16	chr1:159797400-159805000	Weak transcription	Thymus	Thymus
17	chr1:159797400-159815600	Weak transcription	Esophagus	oesophagus
18	chr1:159797600-159823600	Weak transcription	Brain Hippocampus Middle	brain
19	chr1:159798000-159803000	Enhancers	HSMM	muscle
20	chr1:159798200-159800800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:159798200-159803000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:159798200-159803000	Enhancers	Fetal Muscle Leg	muscle
23	chr1:159798200-159823600	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr1:159798400-159800000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr1:159798800-159800400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr1:159798800-159801800	Enhancers	Fetal Brain Female	brain
27	chr1:159799000-159801200	Weak transcription	Duodenum Mucosa	Duodenum
28	chr1:159799000-159802800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr1:159799200-159800000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:159799200-159800400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr1:159799200-159800600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr1:159799200-159801000	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr1:159799200-159801000	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr1:159799200-159803400	Weak transcription	Primary T cells from cord blood	blood
35	chr1:159799200-159806800	Weak transcription	Right Ventricle	heart
36	chr1:159799400-159804800	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr1:159799400-159808200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr1:159799600-159800200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr1:159799600-159800200	Enhancers	Placenta Amnion	Placenta Amnion
40	chr1:159799600-159800400	Enhancers	NHEK	skin
41	chr1:159799600-159800400	Enhancers	Osteobl	bone
42	chr1:159799600-159800800	Enhancers	Muscle Satellite Cultured Cells	--
43	chr1:159799600-159801000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr1:159799600-159801400	Enhancers	Fetal Muscle Trunk	muscle
45	chr1:159799600-159801600	Enhancers	NHDF-Ad	bronchial
46	chr1:159799600-159802000	Enhancers	Ovary	ovary
47	chr1:159799600-159802200	Enhancers	Fetal Brain Male	brain
48	chr1:159799600-159823200	Weak transcription	Rectal Smooth Muscle	rectum
49	chr1:159799800-159800400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr1:159799800-159800400	Bivalent Enhancer	Brain Germinal Matrix	brain

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