Variant report

Variant	rs4702028
Chromosome Location	chr5:14324211-14324212
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	chr5:14318688..14320392-chr5:14322958..14325742,2	MCF-7	breast:
2	chr5:14323699..14325850-chr9:25677132..25680061,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198680	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11747048	1.00[CHB][hapmap]
rs11955435	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13175673	1.00[CHB][hapmap]
rs13177026	0.82[AFR][1000 genomes]
rs13184670	1.00[CHB][hapmap]
rs17299045	1.00[CHB][hapmap]
rs17302408	1.00[CHB][hapmap]
rs17303923	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs187125	1.00[CHB][hapmap]
rs2434605	1.00[CHB][hapmap]
rs26057	1.00[CHB][hapmap]
rs26058	1.00[CHB][hapmap]
rs26059	1.00[CHB][hapmap]
rs26061	1.00[CHB][hapmap]
rs27665	1.00[CHB][hapmap]
rs28010	1.00[CHB][hapmap]
rs30616	1.00[CHB][hapmap]
rs30617	1.00[CHB][hapmap]
rs30619	1.00[CHB][hapmap]
rs30620	1.00[CHB][hapmap]
rs32339	1.00[CHB][hapmap]
rs32341	1.00[CHB][hapmap]
rs32390	1.00[CHB][hapmap]
rs32394	1.00[CHB][hapmap]
rs34045422	1.00[ASN][1000 genomes]
rs354285	1.00[CHB][hapmap]
rs354298	1.00[CHB][hapmap]
rs354300	1.00[CHB][hapmap]
rs354305	1.00[CHB][hapmap]
rs354312	1.00[CHB][hapmap]
rs3849082	1.00[CHB][hapmap]
rs39856	1.00[CHB][hapmap]
rs4702029	0.82[YRI][hapmap]
rs706271	1.00[CHB][hapmap]
rs71614082	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs773701	1.00[CHB][hapmap]
rs773702	1.00[CHB][hapmap]
rs773703	1.00[CHB][hapmap]
rs773763	1.00[CHB][hapmap]
rs923616	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9885134	0.82[CEU][hapmap];0.81[EUR][1000 genomes]

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:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14278000-14341200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:14305400-14326800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr5:14309600-14326600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:14310400-14342000	Weak transcription	Stomach Mucosa	stomach
5	chr5:14310600-14344600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr5:14313600-14325000	Weak transcription	Fetal Heart	heart
7	chr5:14313800-14337600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr5:14314000-14326800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr5:14314200-14325600	Weak transcription	Psoas Muscle	Psoas
10	chr5:14314200-14342200	Weak transcription	Small Intestine	intestine
11	chr5:14314600-14326800	Strong transcription	Muscle Satellite Cultured Cells	--
12	chr5:14314600-14338200	Strong transcription	HSMM	muscle
13	chr5:14314800-14326600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr5:14314800-14342200	Strong transcription	Osteobl	bone
15	chr5:14315000-14325200	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr5:14316200-14325800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr5:14316200-14332600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr5:14316400-14326600	Strong transcription	Rectal Mucosa Donor 31	rectum
19	chr5:14317200-14326800	Strong transcription	NHLF	lung
20	chr5:14317200-14330400	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr5:14317400-14326200	Weak transcription	Fetal Kidney	kidney
22	chr5:14317800-14326000	Weak transcription	Brain Angular Gyrus	brain
23	chr5:14317800-14326000	Weak transcription	Gastric	stomach
24	chr5:14317800-14326200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr5:14317800-14328000	Weak transcription	Brain Substantia Nigra	brain
26	chr5:14317800-14328200	Weak transcription	Fetal Lung	lung
27	chr5:14317800-14330800	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr5:14318000-14329200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr5:14318000-14333000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr5:14318000-14333000	Weak transcription	Thymus	Thymus
31	chr5:14318000-14336600	Weak transcription	Fetal Thymus	thymus
32	chr5:14319200-14325200	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr5:14319200-14325400	Weak transcription	Brain Germinal Matrix	brain
34	chr5:14319200-14328200	Weak transcription	Brain Hippocampus Middle	brain
35	chr5:14319200-14349400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr5:14319400-14333800	Weak transcription	Colon Smooth Muscle	Colon
37	chr5:14319600-14325200	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr5:14319800-14330800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr5:14321400-14324600	Genic enhancers	NH-A	brain
40	chr5:14321400-14328000	Weak transcription	HMEC	breast
41	chr5:14321600-14328000	Weak transcription	Brain Cingulate Gyrus	brain
42	chr5:14321600-14334800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr5:14321600-14336400	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr5:14321600-14336600	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr5:14321600-14340200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr5:14321800-14325400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr5:14321800-14325400	Weak transcription	Left Ventricle	heart
48	chr5:14321800-14325400	Weak transcription	Right Ventricle	heart
49	chr5:14321800-14326000	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr5:14321800-14330200	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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