Variant report

Variant	rs923616
Chromosome Location	chr5:14329404-14329405
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	chr5:14143530..14146323-chr5:14327909..14330771,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000038382	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11747048	1.00[CHB][hapmap]
rs11955435	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13175673	1.00[CHB][hapmap]
rs13184670	1.00[CHB][hapmap]
rs17299045	1.00[CHB][hapmap]
rs17302408	0.84[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap]
rs17303923	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs187125	1.00[CHB][hapmap];1.00[CHD][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	0.84[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap]
rs30617	1.00[CHB][hapmap]
rs30619	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs30620	1.00[CHB][hapmap];1.00[CHD][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];1.00[CHD][hapmap]
rs4702028	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]
rs4702029	0.84[ASW][hapmap];0.81[MEX][hapmap];0.82[YRI][hapmap]
rs706271	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs71614082	1.00[ASN][1000 genomes]
rs773701	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs773702	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs773703	1.00[CHB][hapmap]
rs773763	1.00[CHB][hapmap]
rs9885134	0.88[CEU][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:109 , 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	chr5:14310400-14342000	Weak transcription	Stomach Mucosa	stomach
3	chr5:14310600-14344600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr5:14313800-14337600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr5:14314200-14342200	Weak transcription	Small Intestine	intestine
6	chr5:14314600-14338200	Strong transcription	HSMM	muscle
7	chr5:14314800-14342200	Strong transcription	Osteobl	bone
8	chr5:14316200-14332600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr5:14317200-14330400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr5:14317800-14330800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr5:14318000-14333000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr5:14318000-14333000	Weak transcription	Thymus	Thymus
13	chr5:14318000-14336600	Weak transcription	Fetal Thymus	thymus
14	chr5:14319200-14349400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr5:14319400-14333800	Weak transcription	Colon Smooth Muscle	Colon
16	chr5:14319800-14330800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr5:14321600-14334800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr5:14321600-14336400	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr5:14321600-14336600	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr5:14321600-14340200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:14321800-14330200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr5:14321800-14331000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr5:14321800-14332400	Weak transcription	Pancreas	Pancrea
24	chr5:14321800-14333000	Weak transcription	Lung	lung
25	chr5:14321800-14336000	Weak transcription	Colonic Mucosa	Colon
26	chr5:14321800-14336600	Weak transcription	Rectal Smooth Muscle	rectum
27	chr5:14322200-14334000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr5:14322400-14330600	Weak transcription	Primary T cells from cord blood	blood
29	chr5:14322600-14329800	Strong transcription	NHDF-Ad	bronchial
30	chr5:14322800-14330800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr5:14323000-14336800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr5:14323200-14332800	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr5:14323400-14336600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr5:14323600-14342400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr5:14323800-14333200	Weak transcription	Spleen	Spleen
36	chr5:14323800-14339400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr5:14324600-14330000	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr5:14325200-14333000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr5:14326400-14330600	Weak transcription	Fetal Brain Female	brain
40	chr5:14326400-14332200	Weak transcription	Brain Angular Gyrus	brain
41	chr5:14326400-14332600	Weak transcription	Brain Germinal Matrix	brain
42	chr5:14326400-14333000	Weak transcription	Psoas Muscle	Psoas
43	chr5:14326600-14330800	Weak transcription	HepG2	liver
44	chr5:14326600-14336800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr5:14326600-14342400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr5:14326800-14330600	Weak transcription	Left Ventricle	heart
47	chr5:14326800-14330800	Weak transcription	Primary hematopoietic stem cells	blood
48	chr5:14326800-14331000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr5:14326800-14331400	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr5:14326800-14332400	Weak transcription	Right Ventricle	heart

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