Variant report

Variant	rs2395623
Chromosome Location	chr6:35389031-35389032
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:35386381..35389131-chr6:35434504..35437447,3	K562	blood:
2	chr6:35388456..35390005-chr6:35436172..35437678,2	MCF-7	breast:
3	chr6:35388873..35391570-chr6:35394373..35396733,2	MCF-7	breast:
4	chr6:35376249..35378829-chr6:35387490..35390068,2	K562	blood:
5	chr6:35385294..35388987-chr6:35389022..35393579,4	K562	blood:
6	chr6:35386381..35389895-chr6:35435947..35439155,3	K562	blood:
7	chr6:35353907..35355834-chr6:35387583..35389412,2	K562	blood:

Variant related genes	Relation type
ENSG00000198755	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1040436	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1053049	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1883322	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2016520	0.95[ASN][1000 genomes]
rs2038068	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2076166	0.81[ASN][1000 genomes]
rs2076167	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2076168	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2267666	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2267667	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2395622	0.98[ASN][1000 genomes]
rs3734254	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6457818	0.90[ASN][1000 genomes]
rs760783	0.81[ASN][1000 genomes]
rs7751481	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9380508	0.83[ASN][1000 genomes]
rs9462083	0.92[ASN][1000 genomes]
rs9462084	0.92[ASN][1000 genomes]
rs9794	0.82[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	nsv830641	chr6:35282534-35440603	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	57 gene(s)	inside rSNPs	diseases
2	nsv462907	chr6:35333799-35408959	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv602908	chr6:35333799-35408959	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv602909	chr6:35356640-35423489	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv470812	chr6:35374461-35418118	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv528351	chr6:35377922-35465786	Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	69 gene(s)	inside rSNPs	diseases
7	nsv885799	chr6:35378778-35442397	Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	54 gene(s)	inside rSNPs	diseases
8	nsv462908	chr6:35378778-35457396	Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
9	nsv602910	chr6:35378778-35457396	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
10	nsv519370	chr6:35378778-35537406	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	72 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35370600-35393200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:35377800-35395000	Weak transcription	K562	blood
3	chr6:35378800-35393400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:35379800-35392600	Strong transcription	NHEK	skin
5	chr6:35380400-35392200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr6:35380400-35392200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr6:35381000-35389400	Weak transcription	HMEC	breast
8	chr6:35381200-35389600	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr6:35382800-35390000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr6:35383000-35394600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr6:35383000-35396800	Weak transcription	Right Atrium	heart
12	chr6:35383400-35389400	Weak transcription	Rectal Smooth Muscle	rectum
13	chr6:35383400-35389600	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr6:35383400-35394800	Weak transcription	Fetal Kidney	kidney
15	chr6:35383400-35396600	Weak transcription	Stomach Mucosa	stomach
16	chr6:35383600-35389600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr6:35383600-35389600	Weak transcription	Colon Smooth Muscle	Colon
18	chr6:35383600-35392000	Weak transcription	Brain Germinal Matrix	brain
19	chr6:35383600-35402600	Weak transcription	Fetal Heart	heart
20	chr6:35383800-35389400	Weak transcription	Fetal Brain Female	brain
21	chr6:35383800-35390600	Weak transcription	A549	lung
22	chr6:35383800-35391600	Weak transcription	Fetal Brain Male	brain
23	chr6:35384200-35392800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr6:35384600-35389600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr6:35385600-35390400	Strong transcription	Placenta Amnion	Placenta Amnion
26	chr6:35385600-35392400	Strong transcription	Esophagus	oesophagus
27	chr6:35386400-35389600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr6:35386600-35389600	Weak transcription	Psoas Muscle	Psoas
29	chr6:35387000-35389600	Weak transcription	NHDF-Ad	bronchial
30	chr6:35387000-35389800	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr6:35387200-35389600	Weak transcription	Brain Angular Gyrus	brain
32	chr6:35387200-35389600	Weak transcription	Left Ventricle	heart
33	chr6:35387400-35389600	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr6:35387400-35389600	Weak transcription	HSMM	muscle
35	chr6:35387400-35393200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr6:35387400-35393400	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr6:35387400-35395200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr6:35387600-35389200	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr6:35387600-35389400	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr6:35387600-35389400	Weak transcription	Small Intestine	intestine
41	chr6:35387600-35389400	Weak transcription	GM12878-XiMat	blood
42	chr6:35387600-35389400	Weak transcription	HepG2	liver
43	chr6:35387600-35389600	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr6:35387600-35389600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr6:35387600-35389600	Weak transcription	Fetal Lung	lung
46	chr6:35387600-35390000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr6:35387600-35390600	Strong transcription	Osteobl	bone
48	chr6:35387600-35391800	Strong transcription	Spleen	Spleen
49	chr6:35387600-35392600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr6:35387600-35394000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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