Variant report

Variant	rs7124681
Chromosome Location	chr11:47529947-47529948
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:47495876..47498563-chr11:47527719..47530859,3	K562	blood:
2	chr11:47524421..47526189-chr11:47528668..47531487,2	K562	blood:
3	chr11:47529126..47530970-chr11:47562135..47565880,3	K562	blood:

Variant related genes	Relation type
ENSG00000149187	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 16 )

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs1057233	0.90[CHB][hapmap]
rs1064608	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs10742803	0.85[ASN][1000 genomes]
rs10769258	0.85[CHB][hapmap];0.87[LWK][hapmap]
rs10769262	0.90[CHB][hapmap]
rs10838698	0.85[CHB][hapmap]
rs10838699	0.85[CHB][hapmap]
rs10838704	0.83[ASN][1000 genomes]
rs10838706	0.83[ASN][1000 genomes]
rs10838708	0.95[CHB][hapmap];0.83[CHD][hapmap];0.95[JPT][hapmap];0.82[LWK][hapmap]
rs10838724	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10838738	0.85[CEU][hapmap];0.95[CHB][hapmap];0.94[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap]
rs10838747	0.85[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs10838748	0.85[CEU][hapmap];0.95[CHB][hapmap];0.94[CHD][hapmap];0.81[GIH][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap]
rs11039212	0.90[CHB][hapmap];0.83[CHD][hapmap];0.87[LWK][hapmap]
rs11039219	0.83[ASN][1000 genomes]
rs11039238	0.87[ASN][1000 genomes]
rs11039255	0.98[ASN][1000 genomes]
rs11039265	0.92[ASN][1000 genomes]
rs11600581	0.83[ASN][1000 genomes]
rs11604680	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11605672	0.90[CHB][hapmap];0.83[CHD][hapmap];0.84[LWK][hapmap]
rs12419692	0.85[CEU][hapmap];0.95[CHB][hapmap];0.94[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap]
rs12787112	0.84[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs12794570	0.85[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs12798346	0.85[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.82[ASN][1000 genomes]
rs1317149	0.84[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];0.82[MEX][hapmap];0.95[ASN][1000 genomes]
rs2053979	0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2053980	0.81[ASN][1000 genomes]
rs2071304	0.90[CHB][hapmap]
rs2293577	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2293578	1.00[CHB][hapmap];0.94[CHD][hapmap];0.81[GIH][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs2293580	0.85[ASN][1000 genomes]
rs2868459	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs34958982	0.85[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.97[ASN][1000 genomes]
rs35184771	0.96[ASN][1000 genomes]
rs35496532	0.85[ASN][1000 genomes]
rs35705029	0.90[ASN][1000 genomes]
rs3781624	0.84[ASN][1000 genomes]
rs3781625	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs3781626	1.00[CHB][hapmap];0.94[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs3781627	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs3817334	0.85[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.92[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap]
rs3817335	0.84[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs4752838	0.91[ASN][1000 genomes]
rs4752845	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4752856	0.85[CEU][hapmap];0.95[CHB][hapmap];0.94[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap]
rs4752857	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs4752990	0.90[CHB][hapmap]
rs4752993	0.90[CHB][hapmap];0.83[CHD][hapmap]
rs4752994	0.90[CHB][hapmap]
rs4752999	1.00[CHB][hapmap];0.91[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs4992357	0.90[CHB][hapmap];0.83[CHD][hapmap];0.87[LWK][hapmap]
rs55927797	0.85[ASN][1000 genomes]
rs56400411	0.82[ASN][1000 genomes]
rs60075622	0.84[ASN][1000 genomes]
rs6485753	0.90[CHB][hapmap]
rs66749409	0.83[ASN][1000 genomes]
rs7106956	0.91[ASN][1000 genomes]
rs7107726	0.83[ASN][1000 genomes]
rs755553	1.00[CHB][hapmap];0.91[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs755554	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs755555	0.83[ASN][1000 genomes]
rs7925389	0.91[ASN][1000 genomes]
rs7928842	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.83[ASN][1000 genomes]
rs7937331	1.00[CHB][hapmap];0.91[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7940536	0.90[CHB][hapmap]
rs896816	0.90[CHB][hapmap];0.83[CHD][hapmap];0.87[LWK][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897325	chr11:47411736-47600438	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1036011	chr11:47413060-47582279	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
3	nsv832142	chr11:47517955-47681310	Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

mRNA abundance (count:16)

SNP	Gene	Cis/trans	Tissue	Source
rs7124681	SLC35C1	cis	parietal	SCAN
rs7124681	C1QTNF4	cis	multi-tissue	Pritchard
rs7124681	SLC39A13	cis	cerebellum	SCAN
rs7124681	C1QTNF4	cis	Skin Sun Exposed Lower leg	GTEx
rs7124681	FNBP4	Cis_1M	lymphoblastoid	RTeQTL
rs7124681	SPI1	cis	lymphoblastoid	seeQTL
rs7124681	SPI1	cis	multi-tissue	Pritchard
rs7124681	MTCH2	cis	cerebellum	SCAN
rs7124681	C1QTNF4	cis	Muscle Skeletal	GTEx
rs7124681	C1QTNF4	cis	lymphoblastoid	seeQTL
rs7124681		cis	Lymphoblastoid	GTEx
rs7124681	C1QTNF4	cis	Adipose Subcutaneous	GTEx
rs7124681	Hs.6637	cis	multi-tissue	Pritchard
rs7124681	CRY2	cis	parietal	SCAN
rs7124681	MADD	cis	cerebellum	SCAN
rs7124681	SPI1	cis	Lymphoblastoid	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47508400-47530200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:47509000-47534400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr11:47509200-47530400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr11:47510200-47536800	Weak transcription	Fetal Kidney	kidney
5	chr11:47516800-47530200	Weak transcription	Colonic Mucosa	Colon
6	chr11:47521600-47530200	Weak transcription	Right Ventricle	heart
7	chr11:47521600-47531000	Weak transcription	Lung	lung
8	chr11:47521600-47534000	Weak transcription	Aorta	Aorta
9	chr11:47521600-47534400	Weak transcription	HUVEC	blood vessel
10	chr11:47521800-47531000	Weak transcription	Spleen	Spleen
11	chr11:47522800-47530400	Weak transcription	HepG2	liver
12	chr11:47522800-47536200	Weak transcription	Fetal Brain Female	brain
13	chr11:47523000-47530400	Weak transcription	Esophagus	oesophagus
14	chr11:47523000-47536600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:47523000-47545600	Weak transcription	Dnd41	blood
16	chr11:47523200-47530000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr11:47523200-47531000	Weak transcription	Right Atrium	heart
18	chr11:47523400-47530400	Weak transcription	Pancreas	Pancrea
19	chr11:47524800-47549600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr11:47526200-47530400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr11:47526200-47530400	Weak transcription	Stomach Smooth Muscle	stomach
22	chr11:47526200-47531000	Weak transcription	Fetal Muscle Leg	muscle
23	chr11:47526400-47533400	Weak transcription	Fetal Stomach	stomach
24	chr11:47527600-47531600	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr11:47527800-47530200	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr11:47528000-47530200	Enhancers	Brain Substantia Nigra	brain
27	chr11:47528000-47530200	Enhancers	NHLF	lung
28	chr11:47528000-47530800	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr11:47528000-47530800	Genic enhancers	Hela-S3	cervix
30	chr11:47528000-47531200	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr11:47528000-47531200	Enhancers	Colon Smooth Muscle	Colon
32	chr11:47528000-47531200	Enhancers	HSMMtube	muscle
33	chr11:47528000-47531400	Enhancers	Primary hematopoietic stem cells	blood
34	chr11:47528000-47531600	Enhancers	Adipose Nuclei	Adipose
35	chr11:47528000-47531800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr11:47528000-47532000	Enhancers	HSMM	muscle
37	chr11:47528000-47532400	Enhancers	Stomach Mucosa	stomach
38	chr11:47528000-47535000	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr11:47528000-47538200	Enhancers	Osteobl	bone
40	chr11:47528200-47530000	Enhancers	Rectal Smooth Muscle	rectum
41	chr11:47528200-47530000	Enhancers	NHDF-Ad	bronchial
42	chr11:47528200-47530200	Enhancers	Brain Cingulate Gyrus	brain
43	chr11:47528200-47530400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr11:47528200-47530600	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr11:47528200-47530800	Enhancers	K562	blood
46	chr11:47528200-47531000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr11:47528200-47531000	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr11:47528200-47531000	Weak transcription	Fetal Muscle Trunk	muscle
49	chr11:47528200-47531200	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr11:47528200-47531200	Enhancers	Primary B cells from cord blood	blood

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