Variant report

Variant	rs9504395
Chromosome Location	chr6:5421142-5421143
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1364554	1.00[EUR][1000 genomes]
rs1469191	1.00[EUR][1000 genomes]
rs1469192	1.00[EUR][1000 genomes]
rs1549362	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2113693	0.92[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2432751	1.00[EUR][1000 genomes]
rs2432758	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2432759	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2432782	1.00[EUR][1000 genomes]
rs2432787	1.00[EUR][1000 genomes]
rs2503807	1.00[EUR][1000 genomes]
rs2503810	1.00[EUR][1000 genomes]
rs2503826	1.00[EUR][1000 genomes]
rs2503830	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2503833	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs58896310	1.00[EUR][1000 genomes]
rs9504387	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030254	chr6:5132261-5431585	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1019428	chr6:5216835-5627839	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv538118	chr6:5216835-5627839	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv830578	chr6:5264086-5455570	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv883417	chr6:5307432-5431340	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv883418	chr6:5307432-5501389	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1015643	chr6:5311590-5452427	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1034607	chr6:5311590-5573514	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv538120	chr6:5311590-5573514	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv916361	chr6:5315853-5695486	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv1030744	chr6:5328012-5458222	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv1023027	chr6:5377308-5556749	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv538121	chr6:5377308-5556749	Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv1022505	chr6:5388025-5449240	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv5180	chr6:5389197-5434354	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5374400-5431400	Weak transcription	Primary B cells from cord blood	blood
2	chr6:5395400-5431200	Weak transcription	Left Ventricle	heart
3	chr6:5399200-5440000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr6:5403200-5439800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr6:5403400-5445200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr6:5403600-5437600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr6:5404800-5428200	Weak transcription	Lung	lung
8	chr6:5405200-5431000	Weak transcription	Duodenum Mucosa	Duodenum
9	chr6:5405400-5439800	Weak transcription	Pancreas	Pancrea
10	chr6:5406600-5431400	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr6:5407000-5431000	Weak transcription	Primary B cells from peripheral blood	blood
12	chr6:5407400-5439600	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr6:5408600-5431200	Weak transcription	Gastric	stomach
14	chr6:5410200-5431200	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr6:5410400-5427600	Weak transcription	Thymus	Thymus
16	chr6:5410800-5421200	Weak transcription	Primary T cells from cord blood	blood
17	chr6:5411600-5431200	Weak transcription	HepG2	liver
18	chr6:5411600-5432800	Weak transcription	Fetal Muscle Leg	muscle
19	chr6:5412600-5422200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr6:5412800-5425800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr6:5412800-5431200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr6:5412800-5437000	Weak transcription	Ovary	ovary
23	chr6:5412800-5439400	Weak transcription	Spleen	Spleen
24	chr6:5413400-5431400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr6:5413400-5433200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr6:5413400-5435200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr6:5413400-5442800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr6:5417000-5440400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr6:5417800-5422600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr6:5419000-5432800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr6:5419600-5422200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr6:5419800-5421400	Strong transcription	Aorta	Aorta
33	chr6:5419800-5421600	Strong transcription	Dnd41	blood
34	chr6:5420000-5421600	ZNF genes & repeats	Fetal Intestine Small	intestine
35	chr6:5420200-5436200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr6:5420400-5421600	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr6:5420800-5421200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr6:5420800-5421600	Strong transcription	Fetal Intestine Large	intestine
39	chr6:5421000-5421600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr6:5421000-5421600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr6:5421000-5421600	Strong transcription	Fetal Stomach	stomach

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