Variant report

Variant	rs246813
Chromosome Location	chr5:75599605-75599606
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	chr5:75598828..75601489-chr5:75601894..75603412,2	K562	blood:
2	chr3:176671204..176672083-chr5:75599558..75600405,2	MCF-7	breast:

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10942765	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13174383	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs13188781	1.00[CEU][hapmap];0.85[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.92[MEX][hapmap];0.95[MKK][hapmap];0.85[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1469387	0.82[CEU][hapmap];0.92[EUR][1000 genomes]
rs1863919	0.82[CEU][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];0.83[TSI][hapmap];0.92[EUR][1000 genomes]
rs1971744	0.82[CEU][hapmap];0.83[CHD][hapmap];0.85[MEX][hapmap];0.85[TSI][hapmap];0.92[EUR][1000 genomes]
rs1995381	1.00[CEU][hapmap];0.85[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.84[MEX][hapmap];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2270927	0.83[AMR][1000 genomes]
rs2358710	0.91[ASN][1000 genomes]
rs2358712	0.92[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.85[TSI][hapmap];0.89[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs246814	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs246815	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2913252	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2913255	0.92[EUR][1000 genomes]
rs2913256	0.92[EUR][1000 genomes]
rs2913257	0.82[CEU][hapmap];1.00[GIH][hapmap];0.80[MEX][hapmap];0.85[TSI][hapmap];0.92[EUR][1000 genomes]
rs2913258	0.82[CEU][hapmap];0.92[EUR][1000 genomes]
rs2913259	0.92[EUR][1000 genomes]
rs2913260	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2913262	0.82[CEU][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2913263	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2913265	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2913266	0.82[CEU][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2937740	1.00[CEU][hapmap]
rs2937741	0.82[CEU][hapmap];0.92[EUR][1000 genomes]
rs2937742	0.92[EUR][1000 genomes]
rs2937743	0.82[CEU][hapmap];0.92[EUR][1000 genomes]
rs2937744	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2937745	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2937746	0.82[CEU][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];0.85[TSI][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2937747	0.82[CEU][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];0.85[TSI][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2937748	1.00[CEU][hapmap];0.85[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.84[MEX][hapmap];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2937749	1.00[CEU][hapmap];0.85[CHB][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2937750	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2937752	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2972836	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2972837	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2972838	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2972839	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2972840	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2972843	0.82[CEU][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];0.85[TSI][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2972846	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2972847	0.82[CEU][hapmap];0.92[EUR][1000 genomes]
rs2972848	0.82[CEU][hapmap];0.92[EUR][1000 genomes]
rs2972849	0.92[EUR][1000 genomes]
rs2972850	0.82[CEU][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];0.85[TSI][hapmap];0.92[EUR][1000 genomes]
rs2972853	1.00[CEU][hapmap];1.00[GIH][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2972854	0.89[EUR][1000 genomes]
rs31243	0.93[MEX][hapmap];0.83[AMR][1000 genomes]
rs31244	1.00[ASW][hapmap];0.82[CEU][hapmap];0.92[CHB][hapmap];0.94[CHD][hapmap];0.91[JPT][hapmap];0.96[LWK][hapmap];0.86[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34596551	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35662301	0.81[AMR][1000 genomes]
rs35764719	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35930860	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35966882	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35984318	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4352583	1.00[CEU][hapmap];0.85[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.92[MEX][hapmap];0.94[MKK][hapmap];0.83[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4496693	0.85[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4546360	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4566770	0.85[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.96[ASN][1000 genomes]
rs4566771	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4613682	0.84[CHB][hapmap];0.91[JPT][hapmap];0.96[ASN][1000 genomes]
rs6453213	1.00[CEU][hapmap];0.87[YRI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6453214	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67560206	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs67771044	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6874435	0.85[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.96[ASN][1000 genomes]
rs6875731	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6876070	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6891108	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7730153	1.00[CEU][hapmap];0.85[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027368	chr5:74759999-75663712	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv870415	chr5:75526088-75738412	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75588200-75599800	Weak transcription	Pancreas	Pancrea
2	chr5:75588400-75599800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr5:75593600-75602000	Enhancers	Liver	Liver
4	chr5:75594200-75600000	Weak transcription	Small Intestine	intestine
5	chr5:75595200-75601200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr5:75595200-75605200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr5:75595800-75599800	Weak transcription	Primary T cells from cord blood	blood
8	chr5:75595800-75599800	Weak transcription	GM12878-XiMat	blood
9	chr5:75596400-75604200	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr5:75597400-75603000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr5:75598800-75603000	Enhancers	Primary hematopoietic stem cells	blood
12	chr5:75599000-75599800	Enhancers	Fetal Intestine Large	intestine
13	chr5:75599000-75600000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr5:75599000-75600600	Enhancers	Fetal Thymus	thymus
15	chr5:75599200-75600200	Enhancers	Duodenum Mucosa	Duodenum
16	chr5:75599200-75600400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr5:75599200-75601000	Enhancers	Stomach Mucosa	stomach
18	chr5:75599400-75599800	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr5:75599400-75600000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr5:75599400-75600000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr5:75599400-75600200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr5:75599400-75600200	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr5:75599400-75600400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr5:75599400-75600400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr5:75599400-75600600	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr5:75599400-75600600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr5:75599400-75600600	Enhancers	Rectal Mucosa Donor 29	rectum
28	chr5:75599400-75602400	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr5:75599600-75599800	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr5:75599600-75600000	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr5:75599600-75600000	Enhancers	Primary B cells from cord blood	blood
32	chr5:75599600-75600000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr5:75599600-75600000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
34	chr5:75599600-75600200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr5:75599600-75600200	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr5:75599600-75600200	Enhancers	Thymus	Thymus
37	chr5:75599600-75600200	Enhancers	NHEK	skin
38	chr5:75599600-75600400	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr5:75599600-75600400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
40	chr5:75599600-75600400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr5:75599600-75600600	Enhancers	Primary T cells fromperipheralblood	blood
42	chr5:75599600-75602000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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