Variant report

Variant	rs253479
Chromosome Location	chr5:16894935-16894936
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:16892933..16897070-chr5:16897498..16901971,5	MCF-7	breast:
2	chr5:16894491..16896403-chr5:16903844..16905936,2	MCF-7	breast:
3	chr5:16893313..16896141-chr5:16935202..16937655,2	MCF-7	breast:
4	chr5:16893446..16895051-chr5:16936085..16937930,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145555	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs166186	1.00[EUR][1000 genomes]
rs16869212	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs168812	1.00[EUR][1000 genomes]
rs253471	1.00[EUR][1000 genomes]
rs73064950	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16882800-16895600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr5:16893400-16896600	Enhancers	Fetal Intestine Small	intestine
3	chr5:16893400-16898400	Enhancers	Fetal Intestine Large	intestine
4	chr5:16893600-16898400	Enhancers	Colonic Mucosa	Colon
5	chr5:16893600-16899000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr5:16893800-16895600	Flanking Active TSS	Hela-S3	cervix
7	chr5:16893800-16897000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr5:16893800-16897800	Enhancers	HMEC	breast
9	chr5:16893800-16898200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr5:16893800-16898200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr5:16893800-16898200	Enhancers	Pancreas	Pancrea
12	chr5:16893800-16898600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr5:16894000-16896400	Enhancers	Muscle Satellite Cultured Cells	--
14	chr5:16894000-16897000	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr5:16894000-16897000	Enhancers	Fetal Muscle Trunk	muscle
16	chr5:16894000-16897200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr5:16894000-16898200	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr5:16894000-16898200	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr5:16894000-16898400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr5:16894000-16898400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr5:16894000-16898400	Enhancers	HUVEC	blood vessel
22	chr5:16894000-16899000	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr5:16894200-16895000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr5:16894200-16895000	Flanking Active TSS	Osteobl	bone
25	chr5:16894200-16895600	Enhancers	HSMM	muscle
26	chr5:16894200-16895800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
27	chr5:16894200-16895800	Enhancers	HSMMtube	muscle
28	chr5:16894200-16896000	Enhancers	NHDF-Ad	bronchial
29	chr5:16894200-16897200	Enhancers	Adipose Nuclei	Adipose
30	chr5:16894200-16898200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr5:16894200-16898200	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr5:16894200-16898200	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr5:16894200-16898200	Enhancers	Placenta	Placenta
34	chr5:16894200-16898400	Enhancers	H1 Cell Line	embryonic stem cell
35	chr5:16894200-16898400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr5:16894200-16898400	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr5:16894200-16898400	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr5:16894200-16898400	Enhancers	Fetal Muscle Leg	muscle
39	chr5:16894200-16898800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr5:16894400-16895000	Flanking Active TSS	Duodenum Mucosa	Duodenum
41	chr5:16894400-16895000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr5:16894400-16895000	Enhancers	Fetal Kidney	kidney
43	chr5:16894400-16895000	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr5:16894400-16895000	Enhancers	K562	blood
45	chr5:16894400-16895000	Enhancers	NHLF	lung
46	chr5:16894400-16895600	Weak transcription	Small Intestine	intestine
47	chr5:16894400-16896000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr5:16894400-16896000	Enhancers	Spleen	Spleen
49	chr5:16894400-16896200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr5:16894400-16896400	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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