Variant report

Variant	rs751231
Chromosome Location	chr10:118896664-118896665
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1871345	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6585429	0.84[EUR][1000 genomes]
rs751232	0.90[AFR][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	nsv832002	chr10:118797070-119005840	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
2	nsv825577	chr10:118887637-118905958	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs751231	KIAA1598	cis	Whole Blood	GTEx

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:118890400-118899000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr10:118895800-118897400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
3	chr10:118895800-118898600	Bivalent Enhancer	Fetal Brain Male	brain
4	chr10:118895800-118899600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
5	chr10:118896000-118897000	Bivalent Enhancer	Spleen	Spleen
6	chr10:118896000-118897800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
7	chr10:118896000-118897800	Active TSS	Brain Anterior Caudate	brain
8	chr10:118896000-118898000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
9	chr10:118896000-118898000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
10	chr10:118896000-118900800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
11	chr10:118896200-118896800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
12	chr10:118896200-118896800	Bivalent Enhancer	Colonic Mucosa	Colon
13	chr10:118896200-118896800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
14	chr10:118896200-118896800	Bivalent Enhancer	Fetal Stomach	stomach
15	chr10:118896200-118896800	Enhancers	Pancreas	Pancrea
16	chr10:118896200-118897000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
17	chr10:118896200-118897400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
18	chr10:118896200-118897400	Flanking Bivalent TSS/Enh	NH-A	brain
19	chr10:118896200-118897600	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
20	chr10:118896200-118897800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
21	chr10:118896200-118897800	Bivalent/Poised TSS	Brain Angular Gyrus	brain
22	chr10:118896200-118897800	Bivalent Enhancer	Fetal Intestine Small	intestine
23	chr10:118896200-118898000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
24	chr10:118896200-118898000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr10:118896200-118898000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
26	chr10:118896200-118898000	Bivalent/Poised TSS	Fetal Brain Female	brain
27	chr10:118896200-118898000	Active TSS	A549	lung
28	chr10:118896200-118898200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr10:118896200-118898200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr10:118896200-118898800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr10:118896400-118896800	Bivalent Enhancer	Liver	Liver
32	chr10:118896400-118896800	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
33	chr10:118896400-118896800	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
34	chr10:118896400-118896800	Bivalent/Poised TSS	Right Ventricle	heart
35	chr10:118896400-118896800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
36	chr10:118896400-118897000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
37	chr10:118896400-118897000	Bivalent/Poised TSS	Esophagus	oesophagus
38	chr10:118896400-118897000	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
39	chr10:118896400-118897000	Bivalent Enhancer	Stomach Mucosa	stomach
40	chr10:118896400-118897200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr10:118896400-118897200	Bivalent Enhancer	Placenta	Placenta
42	chr10:118896400-118897200	Bivalent/Poised TSS	HepG2	liver
43	chr10:118896400-118897200	Active TSS	HSMM	muscle
44	chr10:118896400-118897200	Bivalent/Poised TSS	NHEK	skin
45	chr10:118896400-118897400	Bivalent/Poised TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr10:118896400-118897400	Bivalent Enhancer	Fetal Lung	lung
47	chr10:118896400-118897600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
48	chr10:118896400-118897600	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
49	chr10:118896400-118897800	Active TSS	Right Atrium	heart
50	chr10:118896400-118897800	Flanking Bivalent TSS/Enh	HMEC	breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links