Variant report

Variant	rs647126
Chromosome Location	chr11:73712020-73712021
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:73699151..73702599-chr11:73708799..73712495,4	K562	blood:
2	chr11:73693160..73695633-chr11:73711332..73713417,2	K562	blood:

Variant related genes	Relation type
ENSG00000175567	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1685355	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1685356	0.89[CEU][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1726744	0.87[JPT][hapmap]
rs1726745	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1726746	0.91[JPT][hapmap]
rs1726764	0.91[JPT][hapmap]
rs1790398	0.88[JPT][hapmap]
rs1790399	0.87[JPT][hapmap]
rs1790404	0.86[JPT][hapmap]
rs2075577	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4944036	0.87[JPT][hapmap]
rs588097	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs590336	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs591758	0.91[CHB][hapmap]
rs599277	0.87[CHB][hapmap]
rs605442	0.82[CHB][hapmap]
rs631551	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs635441	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs653529	0.91[CHB][hapmap]
rs655717	0.82[CHB][hapmap]
rs659366	0.91[CHB][hapmap]
rs660339	0.86[CHB][hapmap]
rs673494	0.85[CHB][hapmap]
rs680307	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs682602	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7926165	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs826033	0.87[JPT][hapmap]
rs826039	0.87[JPT][hapmap]
rs826056	0.87[JPT][hapmap]
rs826061	0.87[JPT][hapmap]
rs826062	0.87[JPT][hapmap]
rs9735789	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]

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	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs647126	RP11-702H23.4	cis	Thyroid	GTEx

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73703000-73719400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr11:73706000-73713800	Weak transcription	Duodenum Mucosa	Duodenum
3	chr11:73706800-73713600	Weak transcription	Liver	Liver
4	chr11:73706800-73713800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr11:73707000-73714400	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr11:73707200-73713600	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr11:73707200-73714800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr11:73707400-73713200	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr11:73707400-73719800	Weak transcription	Dnd41	blood
10	chr11:73708000-73717600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr11:73708200-73713600	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr11:73708600-73712200	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr11:73708600-73714800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr11:73708800-73712200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr11:73708800-73713400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr11:73708800-73714400	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr11:73708800-73729400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr11:73709000-73713200	Weak transcription	A549	lung
19	chr11:73709000-73714200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr11:73709000-73714400	Weak transcription	Gastric	stomach
21	chr11:73709000-73724200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr11:73709200-73712200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr11:73709200-73713000	Weak transcription	Aorta	Aorta
24	chr11:73709400-73714200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr11:73709400-73716600	Weak transcription	Small Intestine	intestine
26	chr11:73709800-73713400	Weak transcription	Brain Substantia Nigra	brain
27	chr11:73709800-73713400	Weak transcription	HSMMtube	muscle
28	chr11:73709800-73714000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr11:73710000-73712400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr11:73710000-73713600	Weak transcription	Left Ventricle	heart
31	chr11:73710000-73713800	Weak transcription	Brain Cingulate Gyrus	brain
32	chr11:73710000-73715800	Strong transcription	Fetal Muscle Leg	muscle
33	chr11:73710200-73728400	Weak transcription	Colon Smooth Muscle	Colon
34	chr11:73710400-73715800	Weak transcription	Fetal Intestine Large	intestine
35	chr11:73710600-73713200	Weak transcription	Adipose Nuclei	Adipose
36	chr11:73710600-73713600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr11:73710600-73741800	Weak transcription	Fetal Kidney	kidney
38	chr11:73710600-73748800	Weak transcription	Fetal Brain Male	brain
39	chr11:73710800-73712400	Weak transcription	HepG2	liver
40	chr11:73710800-73713000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr11:73710800-73717000	Enhancers	K562	blood
42	chr11:73710800-73717800	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr11:73710800-73722400	Weak transcription	NHDF-Ad	bronchial
44	chr11:73711000-73713800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr11:73711000-73714400	Weak transcription	Pancreas	Pancrea
46	chr11:73711000-73715000	Strong transcription	Fetal Stomach	stomach
47	chr11:73711000-73715400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr11:73711000-73715400	Strong transcription	Fetal Intestine Small	intestine
49	chr11:73711000-73718400	Strong transcription	Fetal Brain Female	brain
50	chr11:73711000-73721200	Weak transcription	H1 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links