Variant report

Variant	rs2510762
Chromosome Location	chr4:95397977-95397978
allele	C/T
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	chr4:95397926..95400285-chr4:95407452..95409108,2	K562	blood:
4	chr4:95370572..95375006-chr4:95392814..95398677,7	K562	blood:
5	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: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10003483	0.86[YRI][hapmap]
rs17378777	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1820475	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2011525	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2433320	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2433322	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2433323	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2433326	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2433327	0.86[CEU][hapmap];0.82[AMR][1000 genomes]
rs2438146	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2438147	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2438148	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2452553	0.83[EUR][1000 genomes]
rs2510763	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2510764	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2510765	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2510800	0.82[JPT][hapmap]
rs28697067	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34570027	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6812165	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7697295	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs774982	0.87[CEU][hapmap];0.86[EUR][1000 genomes]
rs9990678	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9990976	0.82[AMR][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	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

No data

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	chr4:95390800-95398200	Weak transcription	Gastric	stomach
10	chr4:95392600-95399200	Enhancers	Liver	Liver
11	chr4:95392800-95398000	Enhancers	HepG2	liver
12	chr4:95393800-95398000	Weak transcription	HMEC	breast
13	chr4:95393800-95398200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr4:95393800-95398400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr4:95393800-95399200	Enhancers	Fetal Heart	heart
16	chr4:95393800-95401600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr4:95393800-95405600	Weak transcription	HSMMtube	muscle
18	chr4:95394000-95398200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr4:95394000-95398400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr4:95394000-95405000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr4:95394200-95401400	Weak transcription	Brain Anterior Caudate	brain
22	chr4:95394200-95404800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr4:95394400-95398000	Weak transcription	Stomach Smooth Muscle	stomach
24	chr4:95394400-95398000	Weak transcription	Hela-S3	cervix
25	chr4:95394400-95398200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr4:95394400-95400600	Weak transcription	Adipose Nuclei	Adipose
27	chr4:95394400-95405800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr4:95394400-95407000	Weak transcription	NH-A	brain
29	chr4:95394400-95407800	Weak transcription	Aorta	Aorta
30	chr4:95394400-95419200	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr4:95394400-95428000	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr4:95394600-95406000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr4:95394800-95398800	Weak transcription	Right Atrium	heart
34	chr4:95395000-95400600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr4:95395400-95405000	Weak transcription	HSMM	muscle
36	chr4:95395800-95399200	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr4:95396000-95398600	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr4:95396000-95398600	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr4:95396000-95398800	Weak transcription	Left Ventricle	heart
40	chr4:95396000-95399000	Enhancers	Stomach Mucosa	stomach
41	chr4:95396000-95399200	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr4:95396200-95400000	Weak transcription	Pancreas	Pancrea
43	chr4:95396400-95399000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr4:95396600-95398200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr4:95396600-95419000	Weak transcription	Duodenum Mucosa	Duodenum
46	chr4:95396800-95398600	Enhancers	HUVEC	blood vessel
47	chr4:95396800-95410000	Weak transcription	Fetal Intestine Large	intestine
48	chr4:95397000-95399000	Enhancers	Colon Smooth Muscle	Colon
49	chr4:95397200-95398000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr4:95397200-95398200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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