Variant report

Variant	rs75996849
Chromosome Location	chr5:16889587-16889588
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	chr5:16883385..16886348-chr5:16888269..16889832,2	MCF-7	breast:

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

Variant overlapped rSNPs/rCNVs (count:12 , 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	nsv471739	chr5:16889000-16891718	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv3437103	chr5:16889470-16891596	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv3470356	chr5:16889510-16891561	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv3470355	chr5:16889522-16891459	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	esv3470357	chr5:16889522-16891459	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16874000-16894600	Weak transcription	Esophagus	oesophagus
2	chr5:16878200-16893800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:16880600-16894800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr5:16881000-16889800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr5:16881800-16889800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr5:16882000-16894200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:16882600-16889800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:16882800-16895600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr5:16884400-16894800	Weak transcription	Psoas Muscle	Psoas
10	chr5:16885200-16889800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr5:16885200-16891000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr5:16885400-16894200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr5:16886000-16892400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr5:16886000-16893600	Weak transcription	Colonic Mucosa	Colon
15	chr5:16886200-16889600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr5:16886200-16889800	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr5:16886200-16894400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr5:16886400-16889800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr5:16886400-16890800	Enhancers	HSMMtube	muscle
20	chr5:16886400-16891400	Weak transcription	Aorta	Aorta
21	chr5:16886600-16889600	Enhancers	A549	lung
22	chr5:16886600-16889600	Enhancers	Hela-S3	cervix
23	chr5:16886600-16890600	Enhancers	Osteobl	bone
24	chr5:16886800-16889800	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr5:16886800-16889800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr5:16887200-16894000	Weak transcription	Fetal Muscle Trunk	muscle
27	chr5:16887400-16889600	Weak transcription	NHLF	lung
28	chr5:16887400-16891200	Enhancers	NHDF-Ad	bronchial
29	chr5:16887400-16894200	Weak transcription	Placenta	Placenta
30	chr5:16887600-16894200	Weak transcription	Adipose Nuclei	Adipose
31	chr5:16887800-16890200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr5:16888000-16889600	Enhancers	Lung	lung
33	chr5:16888000-16889800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr5:16888000-16891800	Enhancers	Fetal Muscle Leg	muscle
35	chr5:16888200-16889600	Enhancers	HUVEC	blood vessel
36	chr5:16888200-16890600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr5:16888200-16890600	Enhancers	Ovary	ovary
38	chr5:16888200-16890800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr5:16888400-16890200	Enhancers	Fetal Intestine Small	intestine
40	chr5:16888400-16890600	Enhancers	Stomach Mucosa	stomach
41	chr5:16888600-16889600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr5:16888600-16889800	Enhancers	NHEK	skin
43	chr5:16888600-16890000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr5:16888600-16890600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr5:16888600-16891400	Enhancers	Rectal Mucosa Donor 29	rectum
46	chr5:16888600-16891800	Enhancers	Fetal Intestine Large	intestine
47	chr5:16888600-16892000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr5:16888600-16892400	Enhancers	Sigmoid Colon	Sigmoid Colon
49	chr5:16888600-16893000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr5:16888600-16893000	Enhancers	Duodenum Mucosa	Duodenum

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