Variant report

Variant	rs13239834
Chromosome Location	chr7:7707314-7707315
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:7705626..7708031-chr7:7715010..7717688,3	K562	blood:
2	chr7:7704790..7707554-chr7:7715010..7717465,2	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10227236	0.83[AFR][1000 genomes]
rs10229371	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10262410	0.92[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10263415	0.92[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10264890	0.92[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10277945	0.82[ASN][1000 genomes]
rs11508478	0.92[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11773013	0.92[CHB][hapmap];0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs11773126	0.84[CHB][hapmap]
rs13221027	0.83[AFR][1000 genomes]
rs13231388	0.86[YRI][hapmap];0.90[AFR][1000 genomes]
rs13232471	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13234728	0.92[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap];0.93[YRI][hapmap];0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13246995	0.92[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs1557997	0.85[YRI][hapmap];0.83[AFR][1000 genomes]
rs17169379	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2057929	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2057930	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2057931	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2107999	0.81[AFR][1000 genomes]
rs2108000	0.85[YRI][hapmap];0.83[AFR][1000 genomes]
rs2108001	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2108003	0.92[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2158715	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2160138	0.92[CHB][hapmap];0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs4140802	0.92[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4140804	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4140805	0.92[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4720750	1.00[CHB][hapmap];0.87[JPT][hapmap];0.94[ASN][1000 genomes]
rs4725014	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6966726	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6967126	0.96[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7791564	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7795116	0.82[YRI][hapmap]
rs7804775	0.80[YRI][hapmap]
rs7805143	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7805802	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs886725	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs886726	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9640047	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949293	chr7:6990891-7711883	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1026758	chr7:7187491-8075259	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
3	nsv606042	chr7:7427535-7876466	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv887477	chr7:7531819-7810122	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv1032670	chr7:7535515-8017077	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats 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 target site	59 gene(s)	inside rSNPs	diseases
6	nsv8043	chr7:7589195-7862802	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription 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	40 gene(s)	inside rSNPs	diseases
7	nsv606044	chr7:7652372-7727101	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
8	nsv887478	chr7:7670718-7917360	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
9	nsv887479	chr7:7681131-7779091	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	nsv887480	chr7:7681131-7917360	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
11	nsv887481	chr7:7681576-7779324	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv887482	chr7:7682439-7785047	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv887483	chr7:7682439-7798217	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv887484	chr7:7692483-7769363	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
15	nsv887485	chr7:7692483-7917360	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
16	nsv606045	chr7:7704889-7755491	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7681600-7710200	Weak transcription	Aorta	Aorta
2	chr7:7682000-7713800	Weak transcription	Left Ventricle	heart
3	chr7:7682200-7711600	Weak transcription	Primary B cells from peripheral blood	blood
4	chr7:7687800-7717400	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr7:7690600-7713800	Weak transcription	Fetal Intestine Large	intestine
6	chr7:7691800-7717600	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr7:7692400-7717600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr7:7693000-7719200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr7:7693400-7714800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr7:7694800-7718400	Weak transcription	Ovary	ovary
11	chr7:7696600-7715400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr7:7699200-7710000	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr7:7699800-7715400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr7:7701400-7713600	Weak transcription	Thymus	Thymus
15	chr7:7702000-7717000	Weak transcription	Fetal Stomach	stomach
16	chr7:7702000-7717400	Weak transcription	Fetal Intestine Small	intestine
17	chr7:7702200-7715000	Weak transcription	Lung	lung
18	chr7:7702400-7715000	Weak transcription	Adipose Nuclei	Adipose
19	chr7:7702400-7715400	Weak transcription	Pancreas	Pancrea
20	chr7:7702400-7715800	Weak transcription	Spleen	Spleen
21	chr7:7702600-7711800	Weak transcription	Colon Smooth Muscle	Colon
22	chr7:7703400-7726800	Weak transcription	Brain Germinal Matrix	brain
23	chr7:7704000-7709800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr7:7704000-7710600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr7:7704200-7713600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr7:7704200-7717600	Weak transcription	Fetal Kidney	kidney
27	chr7:7704400-7710200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr7:7704400-7713800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr7:7704400-7714200	Weak transcription	Fetal Lung	lung
30	chr7:7704400-7715200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr7:7704400-7715400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr7:7704400-7720800	Weak transcription	Stomach Mucosa	stomach
33	chr7:7704400-7721000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr7:7704400-7726400	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr7:7705400-7713600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:7705600-7711000	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr7:7705600-7713600	Weak transcription	Hela-S3	cervix
38	chr7:7706000-7715200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr7:7706000-7715400	Weak transcription	Duodenum Mucosa	Duodenum
40	chr7:7706000-7715400	Weak transcription	Esophagus	oesophagus
41	chr7:7706200-7710800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr7:7706600-7707400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr7:7706800-7743200	Weak transcription	Gastric	stomach
44	chr7:7707000-7707600	Enhancers	Stomach Smooth Muscle	stomach
45	chr7:7707000-7708400	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr7:7707000-7719400	Weak transcription	Brain Substantia Nigra	brain
47	chr7:7707200-7713600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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