Variant report

Variant	rs7687245
Chromosome Location	chr4:110486492-110486493
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:110481760..110483449-chr4:110486320..110487962,2	K562	blood:
2	chr4:110480690..110482894-chr4:110485123..110487105,2	K562	blood:

Variant related genes	Relation type
ENSG00000005059	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10000545	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10002595	1.00[CHB][hapmap];0.91[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]
rs10155127	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10213562	0.81[CEU][hapmap];1.00[MEX][hapmap]
rs10516558	0.81[GIH][hapmap]
rs11098033	1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap]
rs11098035	1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap]
rs11929713	0.90[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap]
rs11930655	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11935629	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs11941206	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11942291	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11942858	1.00[CHB][hapmap];0.91[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]
rs11943384	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11943430	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12643055	1.00[CHB][hapmap];0.91[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]
rs12644055	0.82[CHB][hapmap]
rs12648138	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12648965	1.00[CHB][hapmap];0.91[CHD][hapmap];0.84[GIH][hapmap];0.86[JPT][hapmap]
rs12650654	1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap]
rs13103034	1.00[CHB][hapmap];0.91[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]
rs13103963	0.82[MEX][hapmap]
rs13123618	1.00[CHB][hapmap];0.91[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]
rs13142698	1.00[CHB][hapmap];0.86[CHD][hapmap];0.84[GIH][hapmap];0.85[JPT][hapmap]
rs13143825	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13145066	1.00[CHB][hapmap];0.91[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]
rs1509314	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1509315	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17040436	1.00[CHB][hapmap];0.91[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap]
rs17040439	1.00[CHB][hapmap];0.91[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]
rs17040461	1.00[CHB][hapmap];0.91[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]
rs17040510	0.86[CHB][hapmap];0.82[CHD][hapmap];0.85[GIH][hapmap];0.86[JPT][hapmap]
rs17040528	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17040543	1.00[CEU][hapmap];0.85[MEX][hapmap];0.95[TSI][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17585970	1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17586019	0.85[ASN][1000 genomes]
rs17619262	1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs28681408	1.00[CHB][hapmap];0.91[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]
rs6815455	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6818911	1.00[CHB][hapmap];0.91[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap]
rs6821382	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6821729	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6833753	0.90[AMR][1000 genomes]
rs6835683	0.86[CHB][hapmap];0.91[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]
rs6841198	1.00[CHB][hapmap];0.91[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap]
rs6856291	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7436583	1.00[CHB][hapmap];0.82[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap]
rs7436745	1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap]
rs7440570	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7675602	1.00[CHB][hapmap];0.91[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]
rs9985632	1.00[CHB][hapmap];0.91[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]
rs9985964	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9993884	0.82[MEX][hapmap]
rs9994676	1.00[CHB][hapmap];0.91[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap]
rs9999570	1.00[CHB][hapmap];0.91[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][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	nsv461613	chr4:109922064-110593460	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv595129	chr4:109922064-110593460	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv3349784	chr4:110348873-110723163	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110482800-110494400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr4:110482800-110495400	Weak transcription	Stomach Mucosa	stomach
3	chr4:110483000-110498200	Weak transcription	HMEC	breast
4	chr4:110483200-110494400	Weak transcription	NHLF	lung
5	chr4:110483400-110487000	Weak transcription	NHDF-Ad	bronchial
6	chr4:110483400-110490000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr4:110483400-110494000	Weak transcription	HSMM	muscle
8	chr4:110484000-110486800	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr4:110484000-110492400	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr4:110484000-110496000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr4:110484200-110493600	Weak transcription	NHEK	skin
12	chr4:110484200-110495800	Weak transcription	Fetal Thymus	thymus
13	chr4:110484200-110509400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr4:110484400-110487800	Weak transcription	Primary B cells from peripheral blood	blood
15	chr4:110484400-110492600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr4:110484400-110495400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr4:110484400-110495800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr4:110484400-110497200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr4:110484400-110509400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr4:110484400-110509400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr4:110484400-110509400	Weak transcription	Thymus	Thymus
22	chr4:110484600-110490200	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr4:110484800-110491000	Weak transcription	GM12878-XiMat	blood
24	chr4:110484800-110495600	Weak transcription	Dnd41	blood
25	chr4:110485000-110495400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr4:110485400-110486800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr4:110485600-110490000	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr4:110485800-110487000	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr4:110486000-110486600	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr4:110486000-110487000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
31	chr4:110486000-110493800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
32	chr4:110486200-110486800	Strong transcription	Primary B cells from cord blood	blood
33	chr4:110486200-110486800	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr4:110486200-110489600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr4:110486400-110486600	Flanking Active TSS	Primary T cells from cord blood	blood
36	chr4:110486400-110487000	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr4:110486400-110487400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr4:110486400-110488200	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood

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