Variant report

Variant	rs7589241
Chromosome Location	chr2:64240027-64240028
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:64238078..64240765-chr2:64241757..64244633,2	K562	blood:
2	chr2:64237815..64241189-chr2:64245046..64247385,4	K562	blood:
3	chr2:64232589..64235192-chr2:64239355..64241006,2	MCF-7	breast:
4	chr2:64238714..64243533-chr2:64243978..64248852,9	MCF-7	breast:
5	chr2:64236322..64240765-chr2:64241571..64244633,4	K562	blood:

Variant related genes	Relation type
ENSG00000143952	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10171008	0.92[ASN][1000 genomes]
rs10187013	1.00[CEU][hapmap]
rs10201844	1.00[CEU][hapmap];0.89[CHB][hapmap];0.95[GIH][hapmap];0.95[MEX][hapmap];0.89[TSI][hapmap]
rs10207847	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11125986	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12611543	0.96[ASN][1000 genomes]
rs12612549	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.81[EUR][1000 genomes]
rs12615049	0.96[ASN][1000 genomes]
rs12988868	0.80[ASN][1000 genomes]
rs1362797	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1440004	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2080649	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2165210	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2302809	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2901636	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs329477	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs329486	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs329487	0.86[AMR][1000 genomes]
rs3980405	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4072113	1.00[CEU][hapmap];0.84[CHB][hapmap];0.95[GIH][hapmap];0.95[MEX][hapmap];0.89[TSI][hapmap]
rs6546038	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.92[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.81[EUR][1000 genomes]
rs6546039	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6546040	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6546042	0.82[ASN][1000 genomes]
rs6546043	0.82[CEU][hapmap];0.95[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6546046	0.95[CEU][hapmap];0.95[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.89[TSI][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6705192	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6716322	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6716558	0.80[EUR][1000 genomes]
rs6724024	0.94[ASN][1000 genomes]
rs6726257	0.83[CHB][hapmap]
rs6727120	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6736556	0.80[ASN][1000 genomes]
rs6737855	1.00[CEU][hapmap];0.89[CHB][hapmap]
rs6746875	0.89[EUR][1000 genomes]
rs6757168	0.93[ASN][1000 genomes]
rs7420396	0.92[ASN][1000 genomes]
rs7560265	0.82[ASN][1000 genomes]
rs7596262	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7602952	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7608885	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[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	nsv531376	chr2:64094322-64521876	Enhancers Active TSS Flanking Active TSS Weak transcription 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 target site	32 gene(s)	inside rSNPs	diseases
2	esv2763643	chr2:64219887-64281337	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1013132	chr2:64235175-64631084	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64154800-64242600	Weak transcription	Aorta	Aorta
2	chr2:64185800-64245000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:64194000-64243200	Weak transcription	NHLF	lung
4	chr2:64209400-64244800	Weak transcription	HSMM	muscle
5	chr2:64210200-64243000	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr2:64213800-64244600	Weak transcription	HUVEC	blood vessel
7	chr2:64222400-64242600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:64222400-64243000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:64225400-64242200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr2:64225800-64242600	Weak transcription	Fetal Kidney	kidney
11	chr2:64226000-64243000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr2:64226000-64245000	Weak transcription	Primary B cells from peripheral blood	blood
13	chr2:64226200-64245000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:64226200-64245000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr2:64226600-64242400	Weak transcription	Primary B cells from cord blood	blood
16	chr2:64226600-64242400	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr2:64226800-64242600	Weak transcription	Small Intestine	intestine
18	chr2:64227000-64244600	Weak transcription	Fetal Brain Female	brain
19	chr2:64227200-64242000	Weak transcription	Primary hematopoietic stem cells	blood
20	chr2:64227200-64245400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr2:64228200-64243800	Weak transcription	Fetal Muscle Leg	muscle
22	chr2:64228600-64242600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr2:64228600-64243800	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr2:64228800-64242600	Weak transcription	Dnd41	blood
25	chr2:64229000-64242000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr2:64229000-64244800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr2:64229000-64245000	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr2:64229200-64242400	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr2:64229200-64242600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr2:64229200-64243000	Weak transcription	Thymus	Thymus
31	chr2:64229200-64243800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr2:64229200-64244800	Weak transcription	Fetal Intestine Small	intestine
33	chr2:64229400-64242400	Weak transcription	Primary T cells from cord blood	blood
34	chr2:64229400-64242600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr2:64229400-64243000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr2:64229400-64243000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr2:64229400-64243000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr2:64229400-64243000	Weak transcription	Ovary	ovary
39	chr2:64229400-64243000	Weak transcription	GM12878-XiMat	blood
40	chr2:64229400-64243000	Weak transcription	HMEC	breast
41	chr2:64229400-64243800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr2:64229400-64243800	Weak transcription	Spleen	Spleen
43	chr2:64229400-64244000	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr2:64229400-64244400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr2:64229400-64244800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr2:64229400-64244800	Weak transcription	Fetal Stomach	stomach
47	chr2:64229400-64244800	Weak transcription	Right Ventricle	heart
48	chr2:64229400-64245400	Weak transcription	Pancreas	Pancrea
49	chr2:64229600-64243000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr2:64229600-64243800	Weak transcription	Fetal Muscle Trunk	muscle

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