Variant report

Variant	rs4695232
Chromosome Location	chr4:47452729-47452730
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	chr4:47447345..47449625-chr4:47449993..47452895,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10004682	0.96[ASN][1000 genomes]
rs10022793	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10029474	0.96[ASN][1000 genomes]
rs10030377	1.00[CEU][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10155173	0.88[CEU][hapmap];0.83[JPT][hapmap];0.91[TSI][hapmap]
rs10155287	0.88[CEU][hapmap];0.82[JPT][hapmap]
rs10155404	0.88[CEU][hapmap]
rs10938484	0.96[ASN][1000 genomes]
rs11724538	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11729717	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11944531	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13102764	0.81[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[TSI][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13106855	0.81[CEU][hapmap];0.85[TSI][hapmap]
rs13138813	1.00[CEU][hapmap];0.90[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28457819	0.84[ASN][1000 genomes]
rs28625886	0.96[ASN][1000 genomes]
rs28631883	0.96[ASN][1000 genomes]
rs4356892	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4388055	0.96[ASN][1000 genomes]
rs4446282	0.96[ASN][1000 genomes]
rs4450898	0.96[ASN][1000 genomes]
rs4493516	0.88[CEU][hapmap];0.82[JPT][hapmap]
rs4591574	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4635794	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs57163868	0.96[ASN][1000 genomes]
rs61003073	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6822230	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6836637	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7664913	0.88[CEU][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs7671396	0.83[ASN][1000 genomes]
rs7693987	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7699557	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9942270	0.96[ASN][1000 genomes]
rs9998407	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][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	nsv998919	chr4:47207023-47476876	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv879005	chr4:47408838-47548254	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv829923	chr4:47436139-47678443	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4695232	CORIN	cis	parietal	SCAN
rs4695232	ATP10D	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:47436800-47465000	Weak transcription	Gastric	stomach
2	chr4:47438600-47464200	Weak transcription	Small Intestine	intestine
3	chr4:47441000-47456000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr4:47442200-47464000	Weak transcription	Left Ventricle	heart
5	chr4:47443600-47464000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:47444000-47453600	Weak transcription	HSMMtube	muscle
7	chr4:47445000-47454800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr4:47445200-47453600	Weak transcription	NHDF-Ad	bronchial
9	chr4:47445200-47454600	Weak transcription	Fetal Intestine Small	intestine
10	chr4:47445400-47453600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr4:47445400-47465000	Weak transcription	Lung	lung
12	chr4:47445600-47453400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr4:47445600-47453600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr4:47445600-47454600	Weak transcription	Ovary	ovary
15	chr4:47445600-47464000	Weak transcription	Pancreas	Pancrea
16	chr4:47445600-47464200	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr4:47445600-47464200	Weak transcription	Thymus	Thymus
18	chr4:47445800-47465000	Weak transcription	Aorta	Aorta
19	chr4:47446000-47465000	Weak transcription	Esophagus	oesophagus
20	chr4:47446200-47453600	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr4:47446200-47453600	Weak transcription	GM12878-XiMat	blood
22	chr4:47446600-47463000	Weak transcription	Brain Anterior Caudate	brain
23	chr4:47447000-47453400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr4:47447000-47453600	Weak transcription	Fetal Thymus	thymus
25	chr4:47447000-47461400	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr4:47447200-47453600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr4:47447200-47453800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr4:47449200-47455000	Weak transcription	Fetal Brain Female	brain
29	chr4:47449600-47464200	Weak transcription	Fetal Brain Male	brain
30	chr4:47449800-47465000	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr4:47450000-47454800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr4:47450200-47453600	Weak transcription	Brain Hippocampus Middle	brain
33	chr4:47450400-47453400	Weak transcription	Liver	Liver
34	chr4:47450600-47453600	Weak transcription	NH-A	brain
35	chr4:47450600-47464400	Weak transcription	Brain Cingulate Gyrus	brain
36	chr4:47450600-47464600	Weak transcription	Rectal Smooth Muscle	rectum
37	chr4:47450600-47464800	Weak transcription	Colonic Mucosa	Colon
38	chr4:47450600-47464800	Weak transcription	A549	lung
39	chr4:47450800-47453600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr4:47450800-47453600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr4:47450800-47453600	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr4:47450800-47453800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr4:47450800-47456000	Weak transcription	NHEK	skin
44	chr4:47450800-47463600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr4:47451000-47453600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr4:47451000-47453600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr4:47451000-47453600	Weak transcription	Fetal Intestine Large	intestine
48	chr4:47451000-47453800	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr4:47451000-47453800	Weak transcription	Brain Germinal Matrix	brain
50	chr4:47451000-47457200	Strong transcription	Primary T cells from cord blood	blood

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