Variant report

Variant	rs4635794
Chromosome Location	chr4:47463221-47463222
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	chr4:47460857..47463494-chr4:47464329..47466944,2	MCF-7	breast:
2	chr4:47460523..47463508-chr4:47463640..47467389,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000169019	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10004682	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10016916	0.83[CEU][hapmap]
rs10022793	0.83[ASN][1000 genomes]
rs10028945	0.83[CEU][hapmap]
rs10029474	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10030377	0.92[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs10155173	0.83[JPT][hapmap]
rs10155287	0.82[JPT][hapmap]
rs10938484	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11724538	0.96[ASN][1000 genomes]
rs11729717	0.96[ASN][1000 genomes]
rs11944531	0.96[ASN][1000 genomes]
rs12510975	0.81[EUR][1000 genomes]
rs13102764	0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs13138813	0.90[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs28457819	0.80[ASN][1000 genomes]
rs28625886	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28631883	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4356892	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4388055	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4446282	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4450898	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4493516	0.82[JPT][hapmap]
rs4591574	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs4695232	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs57163868	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61003073	0.80[ASN][1000 genomes]
rs62300077	0.81[EUR][1000 genomes]
rs62300078	0.81[EUR][1000 genomes]
rs6822230	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6836233	0.82[ASN][1000 genomes]
rs6836637	0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs73234587	0.81[EUR][1000 genomes]
rs7664913	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs7693987	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7699557	0.96[ASN][1000 genomes]
rs9942270	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9998407	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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
rs4635794	TEC	cis	lymphoblastoid	seeQTL
rs4635794	CORIN	cis	parietal	SCAN

Chromatin state (count:112 , 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	chr4:47442200-47464000	Weak transcription	Left Ventricle	heart
4	chr4:47443600-47464000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr4:47445400-47465000	Weak transcription	Lung	lung
6	chr4:47445600-47464000	Weak transcription	Pancreas	Pancrea
7	chr4:47445600-47464200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr4:47445600-47464200	Weak transcription	Thymus	Thymus
9	chr4:47445800-47465000	Weak transcription	Aorta	Aorta
10	chr4:47446000-47465000	Weak transcription	Esophagus	oesophagus
11	chr4:47449600-47464200	Weak transcription	Fetal Brain Male	brain
12	chr4:47449800-47465000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr4:47450600-47464400	Weak transcription	Brain Cingulate Gyrus	brain
14	chr4:47450600-47464600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr4:47450600-47464800	Weak transcription	Colonic Mucosa	Colon
16	chr4:47450600-47464800	Weak transcription	A549	lung
17	chr4:47450800-47463600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr4:47451000-47464400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr4:47451400-47464000	Weak transcription	Colon Smooth Muscle	Colon
20	chr4:47451800-47464600	Weak transcription	Hela-S3	cervix
21	chr4:47452000-47464600	Weak transcription	K562	blood
22	chr4:47452400-47463600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr4:47452400-47464000	Weak transcription	HepG2	liver
24	chr4:47452400-47464800	Weak transcription	Right Ventricle	heart
25	chr4:47452400-47465000	Weak transcription	Psoas Muscle	Psoas
26	chr4:47452600-47464400	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr4:47452600-47465200	Weak transcription	Spleen	Spleen
28	chr4:47453800-47464200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr4:47453800-47464800	Weak transcription	HSMMtube	muscle
30	chr4:47454000-47463400	Weak transcription	Brain Substantia Nigra	brain
31	chr4:47454000-47463800	Weak transcription	Brain Angular Gyrus	brain
32	chr4:47454000-47465000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr4:47454200-47464600	Weak transcription	Duodenum Mucosa	Duodenum
34	chr4:47454200-47464800	Weak transcription	Stomach Smooth Muscle	stomach
35	chr4:47454200-47465000	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr4:47454400-47463800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr4:47454600-47464800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr4:47454600-47465000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr4:47455200-47464000	Weak transcription	Brain Germinal Matrix	brain
40	chr4:47455200-47464400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr4:47455600-47464000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr4:47455600-47464600	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr4:47455600-47465000	Weak transcription	Ovary	ovary
44	chr4:47456000-47464200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr4:47456200-47464000	Weak transcription	NHLF	lung
46	chr4:47456400-47464000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr4:47456400-47464600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr4:47456600-47464400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr4:47456600-47464600	Weak transcription	Placenta	Placenta
50	chr4:47456800-47464600	Weak transcription	Fetal Kidney	kidney

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