Variant report

Variant	rs2510763
Chromosome Location	chr4:95397499-95397500
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:95371857..95374212-chr4:95396560..95398780,2	MCF-7	breast:
2	chr4:95395769..95400285-chr4:95406149..95409946,5	K562	blood:
3	chr4:95370572..95375006-chr4:95392814..95398677,7	K562	blood:
4	chr4:95372251..95374482-chr4:95396388..95398345,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000203436	Chromatin interaction
ENSG00000163110	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs17378777	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.95[MKK][hapmap];0.98[TSI][hapmap];0.92[YRI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1820475	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2011525	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2433320	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2433322	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2433323	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2433326	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2433327	0.88[CEU][hapmap]
rs2438146	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.92[MKK][hapmap];0.95[TSI][hapmap];0.88[YRI][hapmap];0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2438147	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2438148	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2452553	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2510762	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2510765	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2510800	0.83[JPT][hapmap]
rs28697067	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34570027	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3805301	0.80[YRI][hapmap]
rs6812165	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs774982	0.88[CEU][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9990678	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9990976	0.81[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	nsv993495	chr4:94992315-95482578	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv594901	chr4:95254730-95493246	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1003743	chr4:95255957-95469831	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2510763	FAM190A	cis	cerebellum	SCAN

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95374200-95400000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:95374800-95398200	Weak transcription	Esophagus	oesophagus
3	chr4:95375000-95440200	Weak transcription	Primary T cells from cord blood	blood
4	chr4:95375800-95401600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr4:95379200-95398400	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr4:95387400-95410000	Weak transcription	NHLF	lung
7	chr4:95387400-95420800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr4:95389600-95406000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr4:95390800-95397800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr4:95390800-95398200	Weak transcription	Gastric	stomach
11	chr4:95392600-95399200	Enhancers	Liver	Liver
12	chr4:95392800-95398000	Enhancers	HepG2	liver
13	chr4:95393800-95397800	Weak transcription	NHEK	skin
14	chr4:95393800-95398000	Weak transcription	HMEC	breast
15	chr4:95393800-95398200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr4:95393800-95398400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr4:95393800-95399200	Enhancers	Fetal Heart	heart
18	chr4:95393800-95401600	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr4:95393800-95405600	Weak transcription	HSMMtube	muscle
20	chr4:95394000-95397800	Weak transcription	Right Ventricle	heart
21	chr4:95394000-95397800	Weak transcription	Small Intestine	intestine
22	chr4:95394000-95398200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr4:95394000-95398400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr4:95394000-95405000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr4:95394200-95401400	Weak transcription	Brain Anterior Caudate	brain
26	chr4:95394200-95404800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr4:95394400-95398000	Weak transcription	Stomach Smooth Muscle	stomach
28	chr4:95394400-95398000	Weak transcription	Hela-S3	cervix
29	chr4:95394400-95398200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr4:95394400-95400600	Weak transcription	Adipose Nuclei	Adipose
31	chr4:95394400-95405800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr4:95394400-95407000	Weak transcription	NH-A	brain
33	chr4:95394400-95407800	Weak transcription	Aorta	Aorta
34	chr4:95394400-95419200	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr4:95394400-95428000	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr4:95394600-95406000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr4:95394800-95397800	Weak transcription	K562	blood
38	chr4:95394800-95398800	Weak transcription	Right Atrium	heart
39	chr4:95395000-95400600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr4:95395400-95405000	Weak transcription	HSMM	muscle
41	chr4:95395800-95397600	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr4:95395800-95399200	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr4:95396000-95398600	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr4:95396000-95398600	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr4:95396000-95398800	Weak transcription	Left Ventricle	heart
46	chr4:95396000-95399000	Enhancers	Stomach Mucosa	stomach
47	chr4:95396000-95399200	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr4:95396200-95397800	Weak transcription	Ovary	ovary
49	chr4:95396200-95397800	Weak transcription	Psoas Muscle	Psoas
50	chr4:95396200-95400000	Weak transcription	Pancreas	Pancrea

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