Variant report

Variant	rs6493396
Chromosome Location	chr15:50348377-50348378
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10851486	1.00[JPT][hapmap]
rs11854435	1.00[JPT][hapmap]
rs13380264	1.00[JPT][hapmap]
rs28579120	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2899447	1.00[JPT][hapmap]
rs4356419	1.00[JPT][hapmap]
rs57531448	0.92[ASN][1000 genomes]
rs6493397	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7165755	1.00[JPT][hapmap]
rs7167956	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7170142	1.00[JPT][hapmap]
rs7175148	1.00[JPT][hapmap]
rs7178403	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8025172	1.00[JPT][hapmap]
rs935197	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044277	chr15:49921547-50702386	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542380	chr15:49921547-50702386	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv1035983	chr15:50223334-50595170	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv542382	chr15:50223334-50595170	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv904207	chr15:50290295-50352945	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv569395	chr15:50345393-50437494	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50343000-50351200	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr15:50343400-50352000	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr15:50343400-50352400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr15:50343600-50348600	Enhancers	Fetal Intestine Large	intestine
5	chr15:50344200-50356600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr15:50344600-50349800	Weak transcription	Brain Angular Gyrus	brain
7	chr15:50344600-50349800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr15:50344600-50351400	Weak transcription	Small Intestine	intestine
9	chr15:50344800-50350000	Weak transcription	A549	lung
10	chr15:50345800-50350200	Weak transcription	Hela-S3	cervix
11	chr15:50345800-50350400	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr15:50346400-50348600	Enhancers	HSMMtube	muscle
13	chr15:50346400-50348800	Enhancers	NHLF	lung
14	chr15:50347000-50348400	Enhancers	Muscle Satellite Cultured Cells	--
15	chr15:50347000-50348400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr15:50347000-50348600	Enhancers	Rectal Smooth Muscle	rectum
17	chr15:50347000-50348800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr15:50347000-50351800	Enhancers	Primary hematopoietic stem cells	blood
19	chr15:50347200-50348400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr15:50347200-50348400	Enhancers	Aorta	Aorta
21	chr15:50347200-50348400	Enhancers	K562	blood
22	chr15:50347200-50348600	Enhancers	Brain Hippocampus Middle	brain
23	chr15:50347200-50348800	Enhancers	Fetal Intestine Small	intestine
24	chr15:50347400-50348400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr15:50347400-50348600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr15:50347400-50348800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr15:50347600-50348400	Enhancers	Fetal Muscle Leg	muscle
28	chr15:50347600-50351000	Enhancers	Adipose Nuclei	Adipose
29	chr15:50347600-50351800	Enhancers	NHDF-Ad	bronchial
30	chr15:50347800-50348400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr15:50347800-50348600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr15:50347800-50349600	Weak transcription	Fetal Stomach	stomach
33	chr15:50347800-50350200	Weak transcription	Brain Anterior Caudate	brain
34	chr15:50348000-50348400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr15:50348000-50348400	Flanking Active TSS	Duodenum Mucosa	Duodenum
36	chr15:50348000-50348400	Enhancers	Ovary	ovary
37	chr15:50348000-50348400	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr15:50348000-50348400	Enhancers	Right Atrium	heart
39	chr15:50348000-50348400	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr15:50348000-50348400	Enhancers	HSMM	muscle
41	chr15:50348000-50348600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr15:50348000-50348600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr15:50348000-50348600	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr15:50348000-50348600	Flanking Active TSS	Osteobl	bone
45	chr15:50348200-50348400	Enhancers	Stomach Smooth Muscle	stomach
46	chr15:50348200-50349600	Weak transcription	Brain Substantia Nigra	brain
47	chr15:50348200-50349600	Weak transcription	Colon Smooth Muscle	Colon
48	chr15:50348200-50349800	Weak transcription	Fetal Lung	lung
49	chr15:50348200-50359800	Weak transcription	Duodenum Smooth Muscle	Duodenum

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