Variant report

Variant	rs31244
Chromosome Location	chr5:75594743-75594744
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:75566316..75567948-chr5:75593410..75595007,2	K562	blood:
2	chr5:75570576..75572089-chr5:75593353..75595843,2	K562	blood:
3	chr5:75590828..75593662-chr5:75594110..75596646,3	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	0.82[CEU][hapmap];0.92[CHB][hapmap];0.91[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13174383	0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs13188781	0.82[CEU][hapmap];0.84[CHD][hapmap];0.91[JPT][hapmap];0.92[LWK][hapmap];1.00[MKK][hapmap];0.85[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1469387	0.92[EUR][1000 genomes]
rs1863919	0.83[TSI][hapmap];0.92[EUR][1000 genomes]
rs1971744	0.85[TSI][hapmap];0.92[EUR][1000 genomes]
rs1995381	0.82[CEU][hapmap];0.89[CHD][hapmap];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2270927	0.85[AMR][1000 genomes]
rs2358710	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2358712	0.92[ASW][hapmap];0.82[CEU][hapmap];0.84[CHD][hapmap];0.91[JPT][hapmap];0.96[LWK][hapmap];0.86[MEX][hapmap];1.00[MKK][hapmap];0.85[TSI][hapmap];0.85[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs246813	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]
rs246814	0.82[CEU][hapmap];0.92[CHB][hapmap];0.91[JPT][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs246815	0.82[CEU][hapmap];0.92[CHB][hapmap];0.91[JPT][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2913252	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2913255	0.92[EUR][1000 genomes]
rs2913256	0.92[EUR][1000 genomes]
rs2913257	0.85[TSI][hapmap];0.92[EUR][1000 genomes]
rs2913258	0.92[EUR][1000 genomes]
rs2913259	0.92[EUR][1000 genomes]
rs2913260	0.82[CEU][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2913262	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2913263	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2913265	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2913266	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2937740	0.82[CEU][hapmap]
rs2937741	0.92[EUR][1000 genomes]
rs2937742	0.92[EUR][1000 genomes]
rs2937743	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2937744	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2937745	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2937746	0.85[TSI][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2937747	0.84[CHD][hapmap];0.85[TSI][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2937748	0.82[CEU][hapmap];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2937749	0.82[CEU][hapmap];0.90[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	0.84[CHD][hapmap];0.85[TSI][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2972846	0.82[CEU][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2972847	0.92[EUR][1000 genomes]
rs2972848	0.82[CEU][hapmap];0.92[EUR][1000 genomes]
rs2972849	0.92[EUR][1000 genomes]
rs2972850	0.85[TSI][hapmap];0.92[EUR][1000 genomes]
rs2972853	0.82[CEU][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2972854	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs31243	0.85[AMR][1000 genomes]
rs34596551	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35662301	0.83[AMR][1000 genomes]
rs35764719	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35930860	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35966882	0.93[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	0.82[CEU][hapmap];0.83[CHD][hapmap];0.91[JPT][hapmap];0.92[LWK][hapmap];1.00[MKK][hapmap];0.83[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4496693	0.91[JPT][hapmap];0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4546360	0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4566770	0.91[JPT][hapmap];0.96[ASN][1000 genomes]
rs4566771	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4613682	0.82[JPT][hapmap];0.96[ASN][1000 genomes]
rs6453213	1.00[CEU][hapmap];0.81[YRI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6453214	0.82[CEU][hapmap];0.92[CHB][hapmap];0.91[JPT][hapmap];0.85[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67560206	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs67771044	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6874435	0.89[CHD][hapmap];0.91[JPT][hapmap];0.96[ASN][1000 genomes]
rs6875731	0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6876070	1.00[CEU][hapmap];0.84[JPT][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6891108	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7730153	0.82[CEU][hapmap];0.89[CHD][hapmap];0.91[JPT][hapmap];0.93[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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75585000-75596000	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr5:75588200-75599800	Weak transcription	Pancreas	Pancrea
3	chr5:75588400-75599800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr5:75590800-75595200	Weak transcription	GM12878-XiMat	blood
5	chr5:75591800-75597000	Weak transcription	Primary hematopoietic stem cells	blood
6	chr5:75593400-75595200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr5:75593400-75595600	Enhancers	Fetal Intestine Small	intestine
8	chr5:75593600-75595400	Enhancers	Stomach Mucosa	stomach
9	chr5:75593600-75602000	Enhancers	Liver	Liver
10	chr5:75593800-75595800	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr5:75594000-75595800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr5:75594000-75595800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr5:75594000-75596400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr5:75594200-75595200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr5:75594200-75596200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr5:75594200-75600000	Weak transcription	Small Intestine	intestine
17	chr5:75594400-75595600	Enhancers	Duodenum Mucosa	Duodenum
18	chr5:75594400-75596400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr5:75594600-75595600	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr5:75594600-75595600	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr5:75594600-75595600	Enhancers	HepG2	liver
22	chr5:75594600-75595800	Enhancers	Primary T cells from cord blood	blood
23	chr5:75594600-75595800	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr5:75594600-75597400	Enhancers	Fetal Thymus	thymus

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