Variant report

Variant	rs17136059
Chromosome Location	chr7:6213396-6213397
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10240988	0.94[ASW][hapmap];0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.81[MKK][hapmap];0.93[YRI][hapmap];0.97[ASN][1000 genomes]
rs10241174	0.86[YRI][hapmap]
rs10244640	0.81[MKK][hapmap]
rs10247585	0.82[YRI][hapmap]
rs10951976	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3793202	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs740134	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.82[AMR][1000 genomes];0.97[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	nsv533108	chr7:5488018-6316581	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	390 gene(s)	inside rSNPs	diseases
2	nsv948912	chr7:5803903-6623553	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
3	nsv1034060	chr7:5814823-6745710	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
4	nsv538711	chr7:5814823-6745710	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
5	nsv1028242	chr7:5819084-6645024	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
6	nsv538712	chr7:5819084-6645024	Weak transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
7	nsv949531	chr7:5949371-6753694	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
8	nsv1021037	chr7:6070792-6426966	Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
9	nsv538713	chr7:6070792-6426966	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
10	nsv530989	chr7:6176729-6438197	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
11	nsv887427	chr7:6190126-6213396	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6146800-6218200	Weak transcription	Stomach Mucosa	stomach
2	chr7:6184000-6218600	Strong transcription	Fetal Intestine Small	intestine
3	chr7:6198800-6220000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr7:6199200-6219200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr7:6199400-6213800	Strong transcription	Fetal Intestine Large	intestine
6	chr7:6201400-6219200	Weak transcription	K562	blood
7	chr7:6201800-6215000	Weak transcription	Hela-S3	cervix
8	chr7:6201800-6215200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr7:6201800-6226400	Weak transcription	Liver	Liver
10	chr7:6202000-6213400	Strong transcription	Gastric	stomach
11	chr7:6202000-6215000	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr7:6202000-6230600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr7:6202200-6216800	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr7:6202400-6215000	Strong transcription	Duodenum Mucosa	Duodenum
15	chr7:6202400-6218000	Weak transcription	Small Intestine	intestine
16	chr7:6202400-6226600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr7:6202400-6238000	Weak transcription	Fetal Kidney	kidney
18	chr7:6202600-6218000	Weak transcription	Psoas Muscle	Psoas
19	chr7:6202600-6228200	Weak transcription	Dnd41	blood
20	chr7:6203800-6218000	Weak transcription	Rectal Smooth Muscle	rectum
21	chr7:6204600-6217000	Weak transcription	GM12878-XiMat	blood
22	chr7:6204600-6228000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr7:6204800-6216400	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr7:6204800-6216600	Weak transcription	Primary T cells from cord blood	blood
25	chr7:6205000-6215000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr7:6207800-6229800	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr7:6208200-6219600	Weak transcription	Fetal Thymus	thymus
28	chr7:6209400-6213400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr7:6209600-6230000	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr7:6209800-6218000	Weak transcription	Brain Angular Gyrus	brain
31	chr7:6210000-6219400	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr7:6210000-6230000	Weak transcription	Brain Substantia Nigra	brain
33	chr7:6210200-6219200	Weak transcription	Fetal Brain Male	brain
34	chr7:6210400-6216400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr7:6210600-6213400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr7:6210600-6214400	Weak transcription	Fetal Lung	lung
37	chr7:6210600-6216400	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr7:6210600-6228000	Weak transcription	Thymus	Thymus
39	chr7:6210800-6216600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr7:6210800-6217200	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr7:6210800-6229600	Weak transcription	Colonic Mucosa	Colon
42	chr7:6210800-6230000	Strong transcription	Fetal Stomach	stomach
43	chr7:6211000-6215200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr7:6211000-6215200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr7:6211000-6226200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr7:6211200-6213600	Genic enhancers	Adipose Nuclei	Adipose
47	chr7:6211400-6217800	Weak transcription	Fetal Heart	heart
48	chr7:6211800-6214400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr7:6211800-6237800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr7:6212000-6220400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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