Variant report

Variant	rs10520846
Chromosome Location	chr5:16901752-16901753
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:16899974..16902321-chr5:16904564..16907062,3	MCF-7	breast:
2	chr5:16892933..16897070-chr5:16897498..16901971,5	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs16869222	0.82[CHB][hapmap];0.85[CHD][hapmap];0.87[ASN][1000 genomes]
rs16869226	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs173789	0.83[CHD][hapmap];0.87[ASN][1000 genomes]
rs56997603	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60434528	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61567051	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6896099	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025225	chr5:16714512-17234866	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1015247	chr5:16748966-17133274	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv2762500	chr5:16815489-16952565	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
4	nsv880277	chr5:16829442-17316288	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv1034844	chr5:16854341-16903100	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	esv3485757	chr5:16856475-16966851	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
7	esv3485758	chr5:16856475-16966851	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
8	nsv968877	chr5:16901612-16905258	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16895000-16903000	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr5:16895600-16902000	Enhancers	Hela-S3	cervix
3	chr5:16896000-16912400	Weak transcription	Esophagus	oesophagus
4	chr5:16897000-16902800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:16897600-16902000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr5:16898000-16901800	Weak transcription	HSMMtube	muscle
7	chr5:16898000-16902800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr5:16898000-16902800	Weak transcription	HSMM	muscle
9	chr5:16898200-16902600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr5:16898200-16902800	Weak transcription	Colon Smooth Muscle	Colon
11	chr5:16898200-16903000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr5:16898200-16903400	Weak transcription	Placenta	Placenta
13	chr5:16898200-16903800	Weak transcription	Osteobl	bone
14	chr5:16898200-16904000	Weak transcription	NHLF	lung
15	chr5:16898200-16906200	Weak transcription	Psoas Muscle	Psoas
16	chr5:16898200-16912600	Weak transcription	NH-A	brain
17	chr5:16898400-16903000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr5:16898400-16903000	Weak transcription	Fetal Stomach	stomach
19	chr5:16898400-16903000	Weak transcription	Ovary	ovary
20	chr5:16898400-16903800	Weak transcription	Small Intestine	intestine
21	chr5:16898400-16904600	Weak transcription	Fetal Intestine Small	intestine
22	chr5:16899200-16902000	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr5:16899400-16902200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr5:16899400-16907000	Enhancers	Pancreas	Pancrea
25	chr5:16899600-16902000	Enhancers	H1 Cell Line	embryonic stem cell
26	chr5:16899600-16902000	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr5:16899800-16905600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr5:16899800-16910000	Weak transcription	HUVEC	blood vessel
29	chr5:16899800-16910800	Weak transcription	HMEC	breast
30	chr5:16900200-16902200	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr5:16900200-16902200	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr5:16900200-16902200	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr5:16900400-16901800	Enhancers	Fetal Brain Male	brain
34	chr5:16900400-16905400	Enhancers	Fetal Muscle Leg	muscle
35	chr5:16900600-16903800	Weak transcription	NHDF-Ad	bronchial
36	chr5:16900600-16903800	Weak transcription	NHEK	skin
37	chr5:16900800-16903200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr5:16900800-16903200	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr5:16901000-16901800	Enhancers	Stomach Mucosa	stomach
40	chr5:16901000-16902000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr5:16901200-16901800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr5:16901200-16901800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
43	chr5:16901200-16902000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr5:16901200-16902000	Enhancers	Duodenum Mucosa	Duodenum
45	chr5:16901200-16902000	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr5:16901200-16902000	Enhancers	Spleen	Spleen
47	chr5:16901200-16902000	Flanking Active TSS	A549	lung
48	chr5:16901200-16902400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr5:16901200-16904400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr5:16901200-16904800	Enhancers	Fetal Muscle Trunk	muscle

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