Variant report

Variant	rs10240931
Chromosome Location	chr7:149419721-149419722
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:149418945..149421003-chr7:149472021..149474839,2	K562	blood:
2	chr7:149410803..149414471-chr7:149419495..149421257,3	K562	blood:

Variant related genes	Relation type
ENSG00000133619	Chromatin interaction
ENSG00000197558	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10227504	0.82[AFR][1000 genomes]
rs10231875	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10256826	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10256935	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10258658	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10262457	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10267965	0.82[AFR][1000 genomes]
rs10952835	0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11979707	0.98[EUR][1000 genomes]
rs12670882	0.99[EUR][1000 genomes]
rs17171280	0.90[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.93[EUR][1000 genomes]
rs28647767	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28737284	0.82[AFR][1000 genomes]
rs55727837	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56226490	0.98[EUR][1000 genomes]
rs56265968	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57003278	0.86[AFR][1000 genomes]
rs60047316	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60647533	0.96[EUR][1000 genomes]
rs66588543	0.98[EUR][1000 genomes]
rs67491931	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67647638	0.92[EUR][1000 genomes]
rs67657627	0.92[EUR][1000 genomes]
rs68129719	0.94[EUR][1000 genomes]
rs68139633	0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73479712	0.94[EUR][1000 genomes]
rs7791608	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7804205	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7808442	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs867152	0.99[EUR][1000 genomes]
rs885651	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs885652	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.99[EUR][1000 genomes]
rs885653	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021849	chr7:149230929-149422239	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv1034350	chr7:149264094-149666356	Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv539190	chr7:149264094-149666356	Flanking Active TSS Genic enhancers Weak transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv1023901	chr7:149364044-149747442	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
5	nsv539191	chr7:149364044-149747442	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
6	nsv469576	chr7:149379626-149563233	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	nsv1031581	chr7:149386249-149570178	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
8	nsv539192	chr7:149386249-149570178	Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
9	nsv465199	chr7:149398065-149462621	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv608979	chr7:149398065-149462621	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:149412800-149421400	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr7:149412800-149438800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:149413000-149424000	Weak transcription	Fetal Kidney	kidney
4	chr7:149413000-149433200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr7:149413200-149421800	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr7:149413200-149426200	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr7:149413200-149432000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr7:149413200-149433600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr7:149413400-149423000	Weak transcription	Colonic Mucosa	Colon
10	chr7:149413400-149424600	Weak transcription	HUVEC	blood vessel
11	chr7:149413400-149433400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr7:149413800-149419800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr7:149414000-149430200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr7:149414800-149438800	Weak transcription	Fetal Brain Male	brain
15	chr7:149415800-149421800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr7:149416000-149431200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr7:149416000-149431400	Strong transcription	Ovary	ovary
18	chr7:149416000-149431600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:149416000-149431800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr7:149416000-149432000	Strong transcription	Fetal Intestine Small	intestine
21	chr7:149416000-149432400	Strong transcription	Primary T cells from cord blood	blood
22	chr7:149416000-149432800	Strong transcription	Fetal Brain Female	brain
23	chr7:149416200-149431000	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr7:149416400-149421600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr7:149416400-149432200	Strong transcription	Brain Germinal Matrix	brain
26	chr7:149416600-149424200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr7:149416600-149430400	Strong transcription	Spleen	Spleen
28	chr7:149416600-149431400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr7:149416600-149431600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr7:149416800-149423400	Strong transcription	NHEK	skin
31	chr7:149416800-149425200	Strong transcription	Esophagus	oesophagus
32	chr7:149416800-149431000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr7:149416800-149431400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr7:149416800-149431800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr7:149417000-149430200	Strong transcription	H9 Cell Line	embryonic stem cell
36	chr7:149417400-149420800	Strong transcription	HMEC	breast
37	chr7:149417400-149423400	Strong transcription	Duodenum Smooth Muscle	Duodenum
38	chr7:149417400-149431400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr7:149417400-149431400	Strong transcription	Thymus	Thymus
40	chr7:149417600-149419800	Strong transcription	Placenta	Placenta
41	chr7:149417600-149423200	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr7:149417600-149423400	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr7:149417600-149423800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr7:149417600-149424200	Weak transcription	HSMMtube	muscle
45	chr7:149417600-149432000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr7:149417600-149432800	Strong transcription	Fetal Stomach	stomach
47	chr7:149417600-149438800	Weak transcription	GM12878-XiMat	blood
48	chr7:149417800-149424200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
49	chr7:149417800-149427400	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr7:149417800-149430800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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