Variant report

Variant	rs9463992
Chromosome Location	chr6:53751218-53751219
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs3813848	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9296725	1.00[ASN][1000 genomes]
rs9463998	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9474673	1.00[AFR][1000 genomes]
rs9474674	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9474676	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9474677	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9474678	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9474679	1.00[ASN][1000 genomes]
rs9474683	1.00[AFR][1000 genomes]
rs9474684	1.00[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs9474685	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034955	chr6:53447607-53931055	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1021506	chr6:53600338-53770482	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv830664	chr6:53698021-53825270	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:53709800-53762200	Weak transcription	Primary B cells from cord blood	blood
2	chr6:53727600-53751800	Weak transcription	Thymus	Thymus
3	chr6:53730200-53758800	Weak transcription	Brain Anterior Caudate	brain
4	chr6:53732000-53760400	Weak transcription	Aorta	Aorta
5	chr6:53735000-53751800	Weak transcription	Gastric	stomach
6	chr6:53735400-53755600	Weak transcription	HUVEC	blood vessel
7	chr6:53736200-53751400	Weak transcription	Brain Substantia Nigra	brain
8	chr6:53737800-53768400	Weak transcription	Esophagus	oesophagus
9	chr6:53739000-53753600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:53739000-53753600	Weak transcription	NHEK	skin
11	chr6:53739000-53767800	Weak transcription	Ovary	ovary
12	chr6:53739000-53771800	Weak transcription	Pancreas	Pancrea
13	chr6:53740000-53752400	Weak transcription	Brain Hippocampus Middle	brain
14	chr6:53740000-53755200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr6:53740400-53754000	Weak transcription	HSMM	muscle
16	chr6:53740400-53761000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr6:53741800-53760800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr6:53742200-53760800	Weak transcription	Fetal Intestine Large	intestine
19	chr6:53742200-53766200	Weak transcription	Fetal Stomach	stomach
20	chr6:53742400-53758800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr6:53743000-53761800	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr6:53744000-53762400	Weak transcription	Placenta	Placenta
23	chr6:53744200-53752200	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr6:53744600-53764200	Weak transcription	Fetal Intestine Small	intestine
25	chr6:53744800-53752200	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr6:53744800-53760400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr6:53745400-53760600	Weak transcription	Colon Smooth Muscle	Colon
28	chr6:53745600-53762200	Weak transcription	Duodenum Mucosa	Duodenum
29	chr6:53746200-53757200	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr6:53746200-53758000	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr6:53746400-53758600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr6:53746400-53762000	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr6:53746800-53762000	Weak transcription	Primary B cells from peripheral blood	blood
34	chr6:53746800-53768400	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr6:53747000-53753600	Weak transcription	HMEC	breast
36	chr6:53747400-53751600	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr6:53747600-53767800	Weak transcription	Small Intestine	intestine
38	chr6:53748400-53752400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr6:53748800-53754600	Weak transcription	HSMMtube	muscle
40	chr6:53749000-53761800	Weak transcription	Primary hematopoietic stem cells	blood
41	chr6:53749200-53751600	Weak transcription	Brain Cingulate Gyrus	brain
42	chr6:53749200-53751600	Weak transcription	Fetal Thymus	thymus
43	chr6:53749200-53763600	Weak transcription	Rectal Smooth Muscle	rectum
44	chr6:53749200-53765800	Weak transcription	Primary T cells from cord blood	blood
45	chr6:53749400-53762600	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr6:53750400-53752800	Enhancers	Dnd41	blood
47	chr6:53750600-53753600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr6:53750600-53760200	Weak transcription	HepG2	liver

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