Variant report

Variant	rs759270
Chromosome Location	chr7:27646461-27646462
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:27646394..27648572-chr7:27650317..27653232,2	K562	blood:
2	chr7:27646423..27648425-chr7:27891373..27893179,2	K562	blood:

Extended variants
information (count: 142 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:141)

rs_ID	r²[population]
rs1005128	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10081338	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs10081339	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs1009252	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1014373	0.85[AMR][1000 genomes]
rs1015265	1.00[CEU][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1015750	0.88[AMR][1000 genomes]
rs10231814	0.82[ASN][1000 genomes]
rs10233212	0.82[ASN][1000 genomes]
rs1030003	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10447552	0.81[AMR][1000 genomes]
rs10486548	1.00[CEU][hapmap];0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1052724	0.82[AMR][1000 genomes]
rs1052741	0.82[AMR][1000 genomes]
rs10807841	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10951171	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10951172	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10951173	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1115346	0.81[CEU][hapmap]
rs11764753	1.00[CEU][hapmap];0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11767188	0.87[AMR][1000 genomes]
rs12155430	0.81[AMR][1000 genomes]
rs12530626	0.84[CEU][hapmap]
rs12531518	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12537499	0.88[AMR][1000 genomes]
rs12540063	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12665991	0.83[AMR][1000 genomes]
rs12667235	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12668430	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12670415	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12670771	0.83[AMR][1000 genomes]
rs12672811	0.81[AMR][1000 genomes]
rs12673949	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12700817	0.87[AMR][1000 genomes]
rs12700819	0.87[AMR][1000 genomes]
rs12700822	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12700823	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12700824	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12700825	1.00[CEU][hapmap];0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12700826	0.84[CEU][hapmap]
rs12700828	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12700829	1.00[CEU][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12700830	1.00[CEU][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13226102	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13242248	0.81[AMR][1000 genomes]
rs13244903	0.81[AMR][1000 genomes]
rs13308974	0.91[AMR][1000 genomes]
rs1404276	0.87[AMR][1000 genomes]
rs1404278	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1404282	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1524529	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1524532	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1524533	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1554641	0.87[AMR][1000 genomes]
rs1608663	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1608664	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1851913	0.87[AMR][1000 genomes]
rs1880370	0.87[AMR][1000 genomes]
rs1980329	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1980330	1.00[CEU][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2041714	0.88[AMR][1000 genomes]
rs2041715	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2080245	0.85[AMR][1000 genomes]
rs2080246	0.85[AMR][1000 genomes]
rs2098315	0.87[AMR][1000 genomes]
rs2098316	0.85[AMR][1000 genomes]
rs2110526	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2110528	0.80[CEU][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2160125	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2391443	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2391444	0.94[CEU][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2391445	1.00[CEU][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2391446	1.00[CEU][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2391447	1.00[CEU][hapmap];0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2391448	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2391451	1.00[CEU][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2391452	0.81[AMR][1000 genomes]
rs2391453	0.81[AMR][1000 genomes]
rs2391454	1.00[CEU][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28416309	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28429439	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3847001	0.82[AMR][1000 genomes]
rs3925338	0.87[AMR][1000 genomes]
rs4140899	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs42085	0.81[AMR][1000 genomes]
rs42087	1.00[CEU][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs42092	0.84[AMR][1000 genomes]
rs4348389	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4719898	0.82[AMR][1000 genomes]
rs4719900	0.85[AMR][1000 genomes]
rs4719902	0.86[AMR][1000 genomes]
rs4722719	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4722726	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4722728	0.81[AMR][1000 genomes]
rs6462026	0.82[AMR][1000 genomes]
rs6462029	0.87[AMR][1000 genomes]
rs6462031	0.83[CEU][hapmap];0.87[AMR][1000 genomes]
rs6462033	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6462034	0.85[AMR][1000 genomes]
rs6462036	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6462037	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6462038	0.82[CEU][hapmap]
rs6462039	1.00[CEU][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6943883	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6946305	0.92[CEU][hapmap];0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6947731	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6948460	0.81[AMR][1000 genomes]
rs6948814	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6954905	1.00[CEU][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6955074	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6957378	1.00[CEU][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6959126	0.88[AMR][1000 genomes]
rs6959495	0.81[AMR][1000 genomes]
rs6960834	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6963585	0.87[AMR][1000 genomes]
rs6966091	0.84[CEU][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6966587	0.81[AMR][1000 genomes]
rs6974387	0.83[CEU][hapmap]
rs6980382	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs759269	0.88[AMR][1000 genomes]
rs759271	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7779990	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7780431	0.88[AMR][1000 genomes]
rs7782422	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7783447	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7786973	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7789788	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7790498	0.83[AMR][1000 genomes]
rs7806415	1.00[CEU][hapmap];0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7806605	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7808275	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7811436	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs961723	1.00[CEU][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs961724	1.00[CEU][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs961725	1.00[CEU][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9639552	0.88[AMR][1000 genomes]
rs9639553	0.87[AMR][1000 genomes]
rs9639559	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9639560	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs974883	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs978447	0.87[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949025	chr7:27578167-28075172	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs759270	TAX1BP1	Cis_1M	lymphoblastoid	RTeQTL
rs759270	HIBADH	cis	multi-tissue	Pritchard
rs759270	HIBADH	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27582400-27650800	Weak transcription	Left Ventricle	heart
2	chr7:27609400-27651000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr7:27615600-27657800	Weak transcription	Aorta	Aorta
4	chr7:27616000-27650800	Weak transcription	Fetal Kidney	kidney
5	chr7:27626600-27654800	Weak transcription	Placenta	Placenta
6	chr7:27626800-27655800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr7:27628200-27658400	Weak transcription	Duodenum Mucosa	Duodenum
8	chr7:27628600-27658400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr7:27629600-27655400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr7:27630200-27654600	Weak transcription	Primary B cells from cord blood	blood
11	chr7:27630400-27656800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr7:27632200-27655600	Weak transcription	Primary T cells from cord blood	blood
13	chr7:27642600-27646800	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr7:27644200-27655400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr7:27644400-27646800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr7:27644400-27646800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:27644400-27649200	Enhancers	Fetal Intestine Small	intestine
18	chr7:27644400-27658400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr7:27644600-27646600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr7:27644800-27646800	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr7:27645000-27648200	Weak transcription	HSMMtube	muscle
22	chr7:27645000-27649000	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr7:27645200-27646600	Flanking Active TSS	HUVEC	blood vessel
24	chr7:27645200-27647000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr7:27645400-27655600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr7:27645600-27646600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr7:27645600-27646600	Enhancers	Colon Smooth Muscle	Colon
28	chr7:27645600-27646800	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr7:27645600-27646800	Enhancers	H1 Cell Line	embryonic stem cell
30	chr7:27645600-27646800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr7:27645600-27647000	Enhancers	Fetal Lung	lung
32	chr7:27645600-27647200	Flanking Active TSS	Liver	Liver
33	chr7:27645800-27646600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr7:27645800-27646600	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr7:27645800-27646600	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr7:27645800-27646800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr7:27645800-27646800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr7:27645800-27646800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr7:27645800-27646800	Enhancers	HSMM	muscle
40	chr7:27645800-27646800	Enhancers	K562	blood
41	chr7:27645800-27647000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr7:27646000-27646800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
43	chr7:27646000-27646800	Flanking Active TSS	A549	lung
44	chr7:27646000-27655200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr7:27646200-27646800	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr7:27646200-27646800	Enhancers	Osteobl	bone
47	chr7:27646200-27648400	Weak transcription	NHEK	skin
48	chr7:27646200-27649200	Enhancers	Fetal Intestine Large	intestine
49	chr7:27646200-27651800	Enhancers	Hela-S3	cervix
50	chr7:27646200-27655600	Weak transcription	Fetal Muscle Leg	muscle

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