Variant report

Variant	rs7713193
Chromosome Location	chr5:17191679-17191680
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:17178547..17180639-chr5:17189826..17192016,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1540603	1.00[CEU][hapmap]
rs6895041	1.00[CEU][hapmap];1.00[EUR][1000 genomes]

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	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	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
3	nsv1026025	chr5:17039665-17195440	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv830218	chr5:17093162-17290045	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv1029959	chr5:17133214-17455995	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
6	nsv4738	chr5:17178267-17223677	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:17188000-17197800	Weak transcription	Fetal Brain Female	brain
2	chr5:17189000-17193600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr5:17189400-17192200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr5:17189400-17192400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr5:17189400-17192400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr5:17189400-17192800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr5:17189400-17192800	Enhancers	Fetal Muscle Leg	muscle
8	chr5:17189400-17193000	Enhancers	Fetal Intestine Small	intestine
9	chr5:17189400-17193200	Enhancers	Placenta	Placenta
10	chr5:17189800-17192200	Enhancers	HSMMtube	muscle
11	chr5:17189800-17192800	Enhancers	Fetal Intestine Large	intestine
12	chr5:17189800-17193000	Enhancers	HSMM	muscle
13	chr5:17189800-17193200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr5:17190000-17192400	Weak transcription	Fetal Muscle Trunk	muscle
15	chr5:17190000-17195400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:17190200-17192800	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr5:17190400-17192200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr5:17190600-17192200	Weak transcription	Adipose Nuclei	Adipose
19	chr5:17190800-17191800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr5:17191000-17192200	Weak transcription	Fetal Kidney	kidney
21	chr5:17191000-17192600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr5:17191000-17192800	Enhancers	A549	lung
23	chr5:17191200-17192200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr5:17191200-17192200	Weak transcription	Duodenum Mucosa	Duodenum
25	chr5:17191200-17192400	Enhancers	Rectal Mucosa Donor 29	rectum
26	chr5:17191400-17192000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr5:17191400-17192200	Weak transcription	Ovary	ovary
28	chr5:17191400-17192200	Weak transcription	Stomach Smooth Muscle	stomach
29	chr5:17191400-17192200	Weak transcription	NHLF	lung
30	chr5:17191400-17192400	Weak transcription	Fetal Lung	lung
31	chr5:17191400-17192400	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr5:17191400-17193000	Enhancers	Muscle Satellite Cultured Cells	--
33	chr5:17191400-17193800	Enhancers	Osteobl	bone
34	chr5:17191400-17195800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr5:17191400-17195800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr5:17191400-17196200	Weak transcription	HMEC	breast
37	chr5:17191400-17197800	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr5:17191400-17202000	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr5:17191600-17192000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr5:17191600-17192000	Weak transcription	NHDF-Ad	bronchial
41	chr5:17191600-17192800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr5:17191600-17193600	Weak transcription	Hela-S3	cervix
43	chr5:17191600-17196000	Weak transcription	NHEK	skin

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