Variant report

Variant	rs10863936
Chromosome Location	chr1:212237798-212237799
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:212227506..212231237-chr1:212233553..212238482,7	K562	blood:
2	chr1:212237481..212240234-chr1:212245373..212246925,2	K562	blood:
3	chr1:212233371..212238460-chr1:212239206..212242067,4	K562	blood:
4	chr1:212225925..212230498-chr1:212230640..212238482,9	K562	blood:

Variant related genes	Relation type
ENSG00000143476	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11119836	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11119843	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12070369	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs12076757	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12089230	0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1387814	0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1387815	0.90[CHB][hapmap];0.97[CHD][hapmap];0.90[JPT][hapmap];0.90[MEX][hapmap];0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17656163	0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs17656362	0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs17656453	0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs17699790	0.90[CHB][hapmap];0.97[CHD][hapmap];0.86[JPT][hapmap];0.85[MEX][hapmap]
rs2358333	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2358440	0.82[JPT][hapmap]
rs2970595	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs3010023	0.82[JPT][hapmap]
rs4093392	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4394721	0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4951560	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs4951561	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.85[MEX][hapmap];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4951567	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs55806741	0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs55960291	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs56292525	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs61828530	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs61828533	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs61828539	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs61828543	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs61828547	0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs61830761	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6657728	0.82[JPT][hapmap]
rs66858610	0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs67417805	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7519826	0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7525895	0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7540968	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[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	nsv999738	chr1:212218618-212513690	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Height	20881960	GWAS catalog

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs10863936	INTS7	Cis_1M	lymphoblastoid	RTeQTL
rs10863936	MAPKAPK2	cis	parietal	SCAN
rs10863936	HHAT	cis	parietal	SCAN
rs10863936	PROX1	cis	cerebellum	SCAN

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212209600-212253000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:212210800-212241200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:212214400-212278000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:212228600-212237800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:212229200-212237800	Weak transcription	NH-A	brain
6	chr1:212229600-212255400	Weak transcription	NHLF	lung
7	chr1:212229600-212266600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:212229800-212243400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:212229800-212255800	Weak transcription	Thymus	Thymus
10	chr1:212229800-212261000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr1:212229800-212261200	Weak transcription	Fetal Stomach	stomach
12	chr1:212229800-212261400	Weak transcription	Fetal Intestine Small	intestine
13	chr1:212229800-212263000	Weak transcription	Duodenum Mucosa	Duodenum
14	chr1:212229800-212266400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:212230000-212237800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:212230000-212238800	Weak transcription	Primary hematopoietic stem cells	blood
17	chr1:212230000-212239400	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr1:212230000-212242200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr1:212230000-212243400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr1:212230000-212249800	Weak transcription	NHEK	skin
21	chr1:212230000-212255200	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr1:212230000-212255400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr1:212230000-212261200	Weak transcription	Osteobl	bone
24	chr1:212230000-212265200	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr1:212230400-212239400	Weak transcription	HUVEC	blood vessel
26	chr1:212230600-212237800	Weak transcription	Hela-S3	cervix
27	chr1:212230600-212243600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr1:212230800-212240600	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr1:212230800-212261800	Weak transcription	Primary B cells from cord blood	blood
30	chr1:212231000-212255400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr1:212231200-212238800	Weak transcription	HepG2	liver
32	chr1:212231400-212237800	Weak transcription	HMEC	breast
33	chr1:212231400-212243200	Weak transcription	HSMM	muscle
34	chr1:212231400-212253000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr1:212231400-212261800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr1:212231600-212241400	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr1:212231600-212245200	Weak transcription	Fetal Lung	lung
38	chr1:212231800-212237800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr1:212231800-212239600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr1:212233000-212255000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:212233000-212266400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:212234000-212265400	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr1:212234000-212265800	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr1:212234200-212267400	Strong transcription	Dnd41	blood
45	chr1:212236000-212241000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr1:212236000-212265200	Strong transcription	K562	blood
47	chr1:212236800-212238400	Strong transcription	H9 Cell Line	embryonic stem cell
48	chr1:212236800-212249200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr1:212236800-212250200	Strong transcription	Fetal Thymus	thymus
50	chr1:212237000-212261200	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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