Variant report

Variant	rs9463995
Chromosome Location	chr6:53756439-53756440
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs9296724	1.00[AFR][1000 genomes]
rs9349688	1.00[AFR][1000 genomes]
rs9463990	1.00[AFR][1000 genomes]
rs9463999	1.00[AFR][1000 genomes]
rs9474685	1.00[AFR][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:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:53709800-53762200	Weak transcription	Primary B cells from cord blood	blood
2	chr6:53730200-53758800	Weak transcription	Brain Anterior Caudate	brain
3	chr6:53732000-53760400	Weak transcription	Aorta	Aorta
4	chr6:53737800-53768400	Weak transcription	Esophagus	oesophagus
5	chr6:53739000-53767800	Weak transcription	Ovary	ovary
6	chr6:53739000-53771800	Weak transcription	Pancreas	Pancrea
7	chr6:53740400-53761000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr6:53741800-53760800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr6:53742200-53760800	Weak transcription	Fetal Intestine Large	intestine
10	chr6:53742200-53766200	Weak transcription	Fetal Stomach	stomach
11	chr6:53742400-53758800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr6:53743000-53761800	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr6:53744000-53762400	Weak transcription	Placenta	Placenta
14	chr6:53744600-53764200	Weak transcription	Fetal Intestine Small	intestine
15	chr6:53744800-53760400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr6:53745400-53760600	Weak transcription	Colon Smooth Muscle	Colon
17	chr6:53745600-53762200	Weak transcription	Duodenum Mucosa	Duodenum
18	chr6:53746200-53757200	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr6:53746200-53758000	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr6:53746400-53758600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr6:53746400-53762000	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr6:53746800-53762000	Weak transcription	Primary B cells from peripheral blood	blood
23	chr6:53746800-53768400	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr6:53747600-53767800	Weak transcription	Small Intestine	intestine
25	chr6:53749000-53761800	Weak transcription	Primary hematopoietic stem cells	blood
26	chr6:53749200-53763600	Weak transcription	Rectal Smooth Muscle	rectum
27	chr6:53749200-53765800	Weak transcription	Primary T cells from cord blood	blood
28	chr6:53749400-53762600	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr6:53750600-53760200	Weak transcription	HepG2	liver
30	chr6:53752400-53757200	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr6:53752400-53758800	Weak transcription	Brain Angular Gyrus	brain
32	chr6:53752400-53761200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr6:53752400-53771000	Weak transcription	Gastric	stomach
34	chr6:53752400-53771800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr6:53752600-53758800	Weak transcription	Brain Cingulate Gyrus	brain
36	chr6:53752800-53757200	Weak transcription	Brain Hippocampus Middle	brain
37	chr6:53752800-53757400	Weak transcription	Thymus	Thymus
38	chr6:53752800-53782000	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr6:53754200-53758200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr6:53754200-53758800	Weak transcription	HMEC	breast
41	chr6:53754200-53758800	Weak transcription	NHEK	skin
42	chr6:53754400-53759000	Weak transcription	HSMM	muscle
43	chr6:53754400-53760800	Weak transcription	NH-A	brain
44	chr6:53754600-53758600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr6:53754600-53759000	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr6:53754800-53761000	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr6:53754800-53775600	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr6:53754800-53779800	Weak transcription	NHLF	lung
49	chr6:53755000-53757200	Weak transcription	Fetal Thymus	thymus
50	chr6:53755000-53779800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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