Variant report

Variant	rs2861158
Chromosome Location	chr1:175135829-175135830
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:175133817..175136393-chr1:175137880..175140113,3	K562	blood:
2	chr1:175133817..175136820-chr1:175136859..175140006,3	K562	blood:
3	chr1:175130231..175131877-chr1:175135784..175138641,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TNR-2	chr1:175135698-175135873	NONHSAT007750

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1008459	0.80[CEU][hapmap];0.81[CHB][hapmap];1.00[GIH][hapmap];0.83[TSI][hapmap]
rs12136973	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12563833	0.80[CEU][hapmap]
rs2272785	1.00[ASW][hapmap];0.81[CHB][hapmap];0.80[CHD][hapmap];0.95[GIH][hapmap];0.80[MEX][hapmap];0.93[TSI][hapmap]
rs3766686	0.86[ASW][hapmap];0.81[CHB][hapmap];0.85[CHD][hapmap];0.95[GIH][hapmap];0.93[TSI][hapmap]
rs3766690	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3766691	0.95[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.90[GIH][hapmap];0.84[MEX][hapmap];0.97[TSI][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3766695	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[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	nsv522101	chr1:175109517-175151183	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2861158	KIAA0040	cis	lymphoblastoid	seeQTL

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175120000-175139400	Weak transcription	Colon Smooth Muscle	Colon
2	chr1:175122200-175136600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr1:175124000-175140400	Weak transcription	Fetal Heart	heart
4	chr1:175124400-175138200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:175126800-175138200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr1:175126800-175141800	Strong transcription	Primary B cells from cord blood	blood
7	chr1:175126800-175148800	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr1:175127000-175136200	Strong transcription	Thymus	Thymus
9	chr1:175127000-175136600	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr1:175127000-175136600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr1:175127000-175148400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr1:175127200-175136200	Strong transcription	Fetal Thymus	thymus
13	chr1:175127200-175137800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr1:175127200-175139000	Strong transcription	Primary B cells from peripheral blood	blood
15	chr1:175127200-175139000	Strong transcription	Placenta	Placenta
16	chr1:175127200-175139200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr1:175127200-175147800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr1:175127400-175137000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr1:175127400-175139200	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr1:175127400-175144200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr1:175127400-175149400	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr1:175127600-175136600	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr1:175127600-175136800	Strong transcription	Sigmoid Colon	Sigmoid Colon
24	chr1:175127600-175137200	Strong transcription	Pancreas	Pancrea
25	chr1:175127600-175137600	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr1:175127600-175137600	Strong transcription	Liver	Liver
27	chr1:175127600-175140600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr1:175127800-175136000	Strong transcription	Lung	lung
29	chr1:175127800-175136400	Strong transcription	Skeletal Muscle Male	skeletal muscle
30	chr1:175127800-175139200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr1:175127800-175140200	Strong transcription	Spleen	Spleen
32	chr1:175128200-175137000	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr1:175128200-175138400	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr1:175128200-175140000	Strong transcription	Primary T cells from cord blood	blood
35	chr1:175128400-175136000	Strong transcription	Ovary	ovary
36	chr1:175128400-175136000	Strong transcription	Skeletal Muscle Female	skeletal muscle
37	chr1:175128400-175138800	Strong transcription	GM12878-XiMat	blood
38	chr1:175128400-175139200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr1:175128600-175136600	Strong transcription	HMEC	breast
40	chr1:175128600-175136800	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr1:175128600-175138400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr1:175129000-175136200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr1:175129000-175138000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr1:175129000-175138000	Strong transcription	NHEK	skin
45	chr1:175129200-175159600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr1:175129400-175136200	Strong transcription	Fetal Intestine Small	intestine
47	chr1:175130000-175136000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr1:175130200-175137000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr1:175130200-175152600	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr1:175130400-175136800	Weak transcription	HUVEC	blood vessel

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