Variant report

Variant	rs4694636
Chromosome Location	chr4:74598809-74598810
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:102460395..102461152-chr4:74598235..74599053,2	MCF-7	breast:
2	chr4:74596320..74599245-chr4:74921002..74922531,2	K562	blood:
3	chr4:74586378..74587973-chr4:74597015..74599181,2	MCF-7	breast:
4	chr4:74591810..74594488-chr4:74595060..74600715,5	MCF-7	breast:
5	chr4:74588963..74591805-chr4:74598001..74600687,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000248848	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10005565	0.91[ASN][1000 genomes]
rs10009462	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10009488	0.91[ASN][1000 genomes]
rs10010970	0.91[ASN][1000 genomes]
rs10012962	0.82[ASN][1000 genomes]
rs10015626	0.91[ASN][1000 genomes]
rs10019318	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10031141	0.96[CEU][hapmap];0.86[CHB][hapmap]
rs10938092	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10938094	0.82[ASN][1000 genomes]
rs10938095	0.82[ASN][1000 genomes]
rs10938097	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10938100	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1126647	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11730284	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11730560	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11730667	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.89[YRI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11938389	0.91[ASN][1000 genomes]
rs13106097	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13109146	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs13109377	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13112910	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13116536	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13117876	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16849928	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16849945	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16849958	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1951235	0.81[ASN][1000 genomes]
rs1951236	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1951240	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1951242	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1957070	0.91[ASN][1000 genomes]
rs1957661	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2145617	0.84[CEU][hapmap];0.95[CHB][hapmap];0.89[GIH][hapmap];0.92[MEX][hapmap];0.82[TSI][hapmap];0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2224434	0.84[CEU][hapmap];0.95[CHB][hapmap];0.88[GIH][hapmap];0.83[JPT][hapmap];0.87[MEX][hapmap];0.82[TSI][hapmap];0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2227306	0.96[CEU][hapmap];0.90[CHB][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2227307	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2227521	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2227543	0.96[CEU][hapmap];0.90[CHB][hapmap];0.93[CHD][hapmap];0.83[GIH][hapmap];0.89[JPT][hapmap];0.89[TSI][hapmap];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2367276	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs28609798	0.82[ASN][1000 genomes]
rs28612337	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2886920	0.91[ASN][1000 genomes]
rs2886922	0.91[ASN][1000 genomes]
rs4073	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4279174	0.82[ASN][1000 genomes]
rs4549349	0.91[ASN][1000 genomes]
rs4694178	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[YRI][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4694637	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[YRI][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4694639	0.85[CHB][hapmap]
rs62312370	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6446959	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6446960	0.88[ASN][1000 genomes]
rs6446961	0.96[CEU][hapmap];0.90[CHB][hapmap]
rs6820848	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6853679	0.91[ASN][1000 genomes]
rs7689435	0.91[ASN][1000 genomes]
rs9999262	0.82[ASN][1000 genomes]
rs9999446	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001725	chr4:74354050-74860924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv530126	chr4:74376622-74843892	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1008104	chr4:74468434-74621952	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv1012198	chr4:74487793-74621952	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv537139	chr4:74487793-74621952	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv1005231	chr4:74555497-74680079	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4694636	ALB	cis	cerebellum	SCAN

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74592400-74600000	Weak transcription	Psoas Muscle	Psoas
2	chr4:74592400-74600000	Weak transcription	NHLF	lung
3	chr4:74595000-74602400	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr4:74595200-74601800	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr4:74595400-74600000	Weak transcription	Right Atrium	heart
6	chr4:74595800-74600000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr4:74595800-74600000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr4:74595800-74600000	Weak transcription	Osteobl	bone
9	chr4:74595800-74600200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr4:74596200-74600200	Weak transcription	HSMMtube	muscle
11	chr4:74596200-74600400	Weak transcription	HMEC	breast
12	chr4:74596400-74600000	Weak transcription	HSMM	muscle
13	chr4:74596400-74600400	Weak transcription	A549	lung
14	chr4:74596400-74600600	Weak transcription	NHEK	skin
15	chr4:74596400-74605400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr4:74596400-74606000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr4:74597000-74600600	Weak transcription	Hela-S3	cervix
18	chr4:74597200-74599000	Weak transcription	NHDF-Ad	bronchial
19	chr4:74597400-74600000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr4:74597400-74600200	Weak transcription	Primary B cells from cord blood	blood
21	chr4:74597400-74601400	Weak transcription	Lung	lung
22	chr4:74597800-74601800	Enhancers	HUVEC	blood vessel
23	chr4:74598000-74599800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr4:74598000-74600000	Weak transcription	Pancreas	Pancrea
25	chr4:74598000-74605200	Weak transcription	Left Ventricle	heart
26	chr4:74598400-74599000	Weak transcription	GM12878-XiMat	blood
27	chr4:74598400-74599600	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr4:74598400-74599800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr4:74598400-74599800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr4:74598400-74599800	Weak transcription	Colon Smooth Muscle	Colon
31	chr4:74598400-74600000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr4:74598400-74600000	Weak transcription	K562	blood
33	chr4:74598400-74602000	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr4:74598400-74602200	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr4:74598600-74599800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr4:74598600-74600000	Weak transcription	Primary hematopoietic stem cells	blood
37	chr4:74598800-74599000	Enhancers	Ovary	ovary
38	chr4:74598800-74601600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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