Variant report

Variant	rs4944075
Chromosome Location	chr11:71204092-71204093
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:71202765..71205169-chr11:71209024..71211157,2	K562	blood:
2	chr11:71197542..71205760-chr11:71207868..71214040,12	MCF-7	breast:
3	chr11:71199654..71202041-chr11:71202100..71204531,2	K562	blood:
4	chr11:71191263..71193677-chr11:71202441..71204415,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000172890	Chromatin interaction

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs1044535	0.88[EUR][1000 genomes]
rs10751102	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10792743	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10898117	0.88[EUR][1000 genomes]
rs11233606	0.88[EUR][1000 genomes]
rs11608138	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12281481	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1623080	0.82[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs1626291	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1790325	0.88[EUR][1000 genomes]
rs1790326	0.88[EUR][1000 genomes]
rs1790327	0.88[EUR][1000 genomes]
rs1790329	0.88[EUR][1000 genomes]
rs1790334	0.83[AFR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1790346	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1790347	0.88[EUR][1000 genomes]
rs1790348	0.88[EUR][1000 genomes]
rs1790351	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1790354	0.88[EUR][1000 genomes]
rs1790355	0.88[EUR][1000 genomes]
rs1790356	0.83[EUR][1000 genomes]
rs1790357	0.88[EUR][1000 genomes]
rs1790373	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1792265	0.88[EUR][1000 genomes]
rs1792268	0.88[EUR][1000 genomes]
rs1792270	0.88[EUR][1000 genomes]
rs1792271	0.88[EUR][1000 genomes]
rs1792272	0.88[EUR][1000 genomes]
rs1792273	0.88[EUR][1000 genomes]
rs1792274	0.88[EUR][1000 genomes]
rs1792275	0.88[EUR][1000 genomes]
rs1792276	0.83[AFR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1792279	0.91[EUR][1000 genomes]
rs1792285	0.88[EUR][1000 genomes]
rs1792316	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1792319	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2002906	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2155425	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2186773	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2186778	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2276353	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2276354	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2282617	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2282618	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2282619	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2298772	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2851693	0.83[AFR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3763859	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3763860	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3794065	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3794066	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3794067	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3814731	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3814734	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4944063	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4944064	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4944080	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4944999	0.91[ASN][1000 genomes]
rs4945001	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4945007	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4945013	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6592154	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592180	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7110053	0.88[EUR][1000 genomes]
rs7110316	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7113783	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7123973	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7124675	0.88[EUR][1000 genomes]
rs7129099	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs751389	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs760241	0.88[EUR][1000 genomes]
rs7690	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7926054	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7950584	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs949176	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs949177	0.83[AFR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs949178	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048123	chr11:70795222-71231382	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
2	nsv526973	chr11:71088949-71215880	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv897897	chr11:71088949-71217571	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
5	nsv897898	chr11:71103143-71211654	Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
6	nsv519224	chr11:71108341-71215880	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
7	nsv1037357	chr11:71162241-71209628	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
8	nsv541085	chr11:71162241-71209628	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
9	nsv1052432	chr11:71167449-71213007	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	9 gene(s)	inside rSNPs	diseases
10	nsv468632	chr11:71200320-71289089	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv555402	chr11:71200320-71289089	Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71165000-71210000	Weak transcription	Psoas Muscle	Psoas
2	chr11:71165800-71218400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr11:71181400-71217800	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr11:71181800-71218000	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr11:71182000-71217600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr11:71182200-71211000	Strong transcription	Liver	Liver
7	chr11:71182200-71216000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr11:71182200-71216200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr11:71182200-71216200	Strong transcription	Rectal Mucosa Donor 31	rectum
10	chr11:71182200-71217800	Strong transcription	Primary T cells from cord blood	blood
11	chr11:71182400-71213800	Strong transcription	Rectal Mucosa Donor 29	rectum
12	chr11:71182400-71217200	Strong transcription	Sigmoid Colon	Sigmoid Colon
13	chr11:71182400-71217600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr11:71182400-71217800	Strong transcription	Duodenum Mucosa	Duodenum
15	chr11:71182600-71210200	Strong transcription	Thymus	Thymus
16	chr11:71182600-71213600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr11:71182800-71216400	Strong transcription	Stomach Smooth Muscle	stomach
18	chr11:71183000-71213400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr11:71189800-71218400	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr11:71195400-71204400	Weak transcription	Hela-S3	cervix
21	chr11:71195400-71206000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr11:71195600-71208000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr11:71196200-71209600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr11:71196400-71207600	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr11:71197400-71205200	Weak transcription	Colon Smooth Muscle	Colon
26	chr11:71197600-71206400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr11:71197800-71205200	Weak transcription	Rectal Smooth Muscle	rectum
28	chr11:71197800-71206000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr11:71197800-71208400	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr11:71197800-71208600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr11:71197800-71209400	Weak transcription	NHDF-Ad	bronchial
32	chr11:71197800-71211800	Weak transcription	Fetal Brain Male	brain
33	chr11:71198800-71211400	Strong transcription	Adipose Nuclei	Adipose
34	chr11:71199200-71205800	Strong transcription	Fetal Brain Female	brain
35	chr11:71199200-71211200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr11:71199200-71211200	Strong transcription	Gastric	stomach
37	chr11:71199400-71214600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr11:71199400-71215600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr11:71199600-71208400	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr11:71199600-71213000	Strong transcription	Primary B cells from cord blood	blood
41	chr11:71199600-71216400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr11:71199600-71218400	Strong transcription	Fetal Intestine Small	intestine
43	chr11:71199800-71208400	Weak transcription	K562	blood
44	chr11:71200000-71215000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr11:71200000-71216000	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr11:71200200-71205400	Weak transcription	HSMM	muscle
47	chr11:71200200-71211200	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr11:71200200-71213200	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr11:71200200-71216000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr11:71200200-71216400	Strong transcription	Primary B cells from peripheral blood	blood

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