Variant report

Variant	rs247138
Chromosome Location	chr5:14342262-14342263
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:14340281..14342656-chr5:14350736..14353309,2	MCF-7	breast:
2	chr5:14143270..14145160-chr5:14339683..14342800,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000038382	Chromatin interaction

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

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

rs_ID	r²[population]
rs152177	0.94[ASN][1000 genomes]
rs173948	0.95[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.97[ASN][1000 genomes]
rs181927	0.96[ASN][1000 genomes]
rs256424	0.96[ASN][1000 genomes]
rs43171	0.82[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948355	chr5:14160447-14395478	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv830210	chr5:14255039-14431552	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14310600-14344600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr5:14319200-14349400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr5:14323600-14342400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:14326600-14342400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:14326800-14346400	Weak transcription	Fetal Kidney	kidney
6	chr5:14328000-14344400	Strong transcription	HMEC	breast
7	chr5:14330600-14344600	Strong transcription	Rectal Mucosa Donor 29	rectum
8	chr5:14330600-14345000	Strong transcription	Fetal Muscle Trunk	muscle
9	chr5:14330800-14343400	Strong transcription	Fetal Muscle Leg	muscle
10	chr5:14331000-14348000	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr5:14331400-14350000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr5:14332600-14344400	Strong transcription	NHEK	skin
13	chr5:14333000-14343400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr5:14334000-14349400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr5:14334800-14343400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr5:14335000-14360600	Weak transcription	Psoas Muscle	Psoas
17	chr5:14335200-14348600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr5:14336400-14349400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr5:14337800-14346600	Weak transcription	Fetal Heart	heart
20	chr5:14338000-14342400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr5:14338000-14357200	Weak transcription	Colonic Mucosa	Colon
22	chr5:14338200-14343400	Weak transcription	Hela-S3	cervix
23	chr5:14338400-14358000	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr5:14338600-14348000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr5:14338800-14343000	Genic enhancers	NHLF	lung
26	chr5:14338800-14347000	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr5:14338800-14357600	Weak transcription	Esophagus	oesophagus
28	chr5:14339000-14343800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr5:14339000-14346400	Weak transcription	Rectal Smooth Muscle	rectum
30	chr5:14339200-14342800	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr5:14339200-14344000	Weak transcription	Fetal Lung	lung
32	chr5:14339200-14357600	Weak transcription	Gastric	stomach
33	chr5:14339200-14358000	Weak transcription	Thymus	Thymus
34	chr5:14339200-14358200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr5:14339400-14358400	Weak transcription	Fetal Thymus	thymus
36	chr5:14339600-14342600	Enhancers	Pancreas	Pancrea
37	chr5:14339600-14342800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr5:14339800-14348800	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr5:14340000-14343000	Weak transcription	HepG2	liver
40	chr5:14340000-14347000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr5:14340400-14353800	Strong transcription	Muscle Satellite Cultured Cells	--
42	chr5:14340600-14342400	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr5:14340600-14342800	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr5:14340600-14342800	Enhancers	Fetal Brain Female	brain
45	chr5:14340600-14343400	Enhancers	H1 Cell Line	embryonic stem cell
46	chr5:14340600-14343400	Enhancers	H9 Cell Line	embryonic stem cell
47	chr5:14340600-14343600	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr5:14340600-14344000	Enhancers	Liver	Liver
49	chr5:14340800-14342400	Enhancers	Brain Angular Gyrus	brain
50	chr5:14340800-14342400	Enhancers	Colon Smooth Muscle	Colon

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