Variant report

Variant	rs11757415
Chromosome Location	chr6:15399692-15399693
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr6:15399651-15401885	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr6:15399686-15399731	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:15342546..15345320-chr6:15399209..15400740,2	K562	blood:
2	chr6:15368801..15370843-chr6:15397622..15400552,2	K562	blood:
3	chr6:15374975..15376583-chr6:15397138..15400134,2	MCF-7	breast:
4	chr6:15397861..15400160-chr6:15471488..15473543,2	K562	blood:
5	chr6:15211244..15213237-chr6:15398595..15400625,2	K562	blood:
6	chr6:15245364..15247878-chr6:15398194..15399991,2	K562	blood:

No data

Variant related genes	Relation type
JARID2	TF binding region
ENSG00000008083	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10484355	0.82[JPT][hapmap];0.97[ASN][1000 genomes]
rs10949294	1.00[JPT][hapmap]
rs10949295	1.00[JPT][hapmap]
rs11756544	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11759478	0.88[JPT][hapmap]
rs12211278	1.00[JPT][hapmap]
rs13192347	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs13194410	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs13195950	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13205396	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs13205612	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs13208486	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs13214720	0.81[ASN][1000 genomes]
rs16876278	1.00[JPT][hapmap]
rs16876354	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs17575737	0.86[JPT][hapmap]
rs17576233	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs17576436	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs17576710	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs17637773	1.00[JPT][hapmap]
rs17638192	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs17638720	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2237146	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2299051	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2299057	0.95[ASN][1000 genomes]
rs34002211	0.95[ASN][1000 genomes]
rs34764533	0.92[ASN][1000 genomes]
rs35047303	0.95[ASN][1000 genomes]
rs35139070	0.95[ASN][1000 genomes]
rs35364784	0.95[ASN][1000 genomes]
rs35629999	0.95[ASN][1000 genomes]
rs35734069	0.95[ASN][1000 genomes]
rs35918625	0.95[ASN][1000 genomes]
rs56123857	0.95[ASN][1000 genomes]
rs61296041	0.95[ASN][1000 genomes]
rs66478504	0.95[ASN][1000 genomes]
rs6941859	0.95[ASN][1000 genomes]
rs72836327	0.95[ASN][1000 genomes]
rs742102	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7747437	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7767966	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][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	nsv1027010	chr6:15201803-15425629	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv538140	chr6:15217899-15547127	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1030558	chr6:15234675-15449137	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv538141	chr6:15234675-15509163	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv538142	chr6:15243960-15404893	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	nsv949448	chr6:15279490-15449441	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv1025512	chr6:15291551-15452395	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv538143	chr6:15291551-15452395	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv1019927	chr6:15351240-15419257	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv538145	chr6:15351240-15419257	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:15365000-15402800	Weak transcription	Dnd41	blood
2	chr6:15390600-15399800	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr6:15390800-15400000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:15390800-15400200	Weak transcription	Aorta	Aorta
5	chr6:15391000-15400000	Weak transcription	Thymus	Thymus
6	chr6:15391600-15400200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr6:15391800-15400200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr6:15392000-15400200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr6:15392200-15400000	Weak transcription	NHLF	lung
10	chr6:15392400-15400000	Weak transcription	HMEC	breast
11	chr6:15392800-15399800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr6:15393400-15399800	Weak transcription	Fetal Brain Male	brain
13	chr6:15393400-15400000	Weak transcription	Gastric	stomach
14	chr6:15394600-15400200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr6:15396000-15400000	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr6:15396000-15400000	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr6:15396200-15400800	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr6:15396200-15410200	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr6:15396600-15400400	Enhancers	H9 Cell Line	embryonic stem cell
20	chr6:15396800-15401200	Enhancers	Small Intestine	intestine
21	chr6:15397400-15405600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr6:15397600-15400400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr6:15397600-15400400	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr6:15397600-15401800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr6:15397600-15405800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr6:15397800-15400000	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr6:15397800-15400000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr6:15398000-15400200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr6:15398000-15400400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr6:15398000-15406000	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr6:15398200-15400000	Enhancers	Brain Hippocampus Middle	brain
32	chr6:15398200-15400000	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr6:15398400-15400200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr6:15398400-15400800	Enhancers	Primary B cells from peripheral blood	blood
35	chr6:15398400-15405600	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr6:15398600-15400000	Enhancers	Fetal Lung	lung
37	chr6:15398600-15400200	Enhancers	Brain Anterior Caudate	brain
38	chr6:15398600-15400800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr6:15398600-15401400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr6:15398600-15401600	Enhancers	Primary B cells from cord blood	blood
41	chr6:15398600-15405800	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr6:15398600-15406600	Enhancers	H1 Cell Line	embryonic stem cell
43	chr6:15398800-15400000	Enhancers	Adipose Nuclei	Adipose
44	chr6:15398800-15400000	Enhancers	Fetal Kidney	kidney
45	chr6:15398800-15400200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr6:15398800-15400200	Enhancers	Colon Smooth Muscle	Colon
47	chr6:15398800-15400200	Enhancers	Psoas Muscle	Psoas
48	chr6:15398800-15400400	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr6:15398800-15400800	Enhancers	Primary T cells from cord blood	blood
50	chr6:15398800-15401400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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