Variant report

Variant	rs7794292
Chromosome Location	chr7:27650127-27650128
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 166 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:165)

rs_ID	r²[population]
rs1005128	0.90[ASN][1000 genomes]
rs1009252	0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1014373	0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1015750	0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1030003	1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10447552	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs10486548	0.82[CHB][hapmap]
rs1052724	0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1052741	0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10807841	0.90[ASN][1000 genomes]
rs10951169	0.90[ASN][1000 genomes]
rs10951171	0.90[ASN][1000 genomes]
rs10951172	0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10951175	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs10951176	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs1111647	0.90[ASN][1000 genomes]
rs1115346	0.81[ASN][1000 genomes]
rs11526176	0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11762342	0.81[ASN][1000 genomes]
rs11763449	0.81[ASN][1000 genomes]
rs11764753	0.82[CHB][hapmap]
rs11767188	0.90[ASN][1000 genomes]
rs11973492	0.81[ASN][1000 genomes]
rs12155430	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs12164139	0.96[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12530626	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12535844	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs12537499	0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12540276	0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12665991	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs12667235	0.82[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12667610	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs12668430	0.82[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12670415	0.84[ASN][1000 genomes]
rs12670771	0.87[ASN][1000 genomes]
rs12672811	0.81[ASN][1000 genomes]
rs12700813	0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12700815	0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12700817	0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12700819	0.81[ASN][1000 genomes]
rs12700822	0.94[ASN][1000 genomes]
rs12700825	0.82[CHB][hapmap]
rs12700826	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12700829	0.82[CHB][hapmap]
rs12700830	0.82[CHB][hapmap]
rs13226102	0.93[ASN][1000 genomes]
rs13227873	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.96[MEX][hapmap];0.86[MKK][hapmap];0.95[TSI][hapmap];0.85[YRI][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13237776	1.00[JPT][hapmap]
rs13242248	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs13244903	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs13246464	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13308974	0.93[ASN][1000 genomes]
rs1357760	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1404276	0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1404278	0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1524526	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1524530	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1524531	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1524532	0.90[ASN][1000 genomes]
rs1524533	0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1554641	0.90[ASN][1000 genomes]
rs1608664	0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs17155546	1.00[JPT][hapmap]
rs1851911	0.81[ASN][1000 genomes]
rs1851912	0.81[ASN][1000 genomes]
rs1851913	0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1880370	0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1980329	0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1986243	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2041714	0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2080245	0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2080246	0.90[ASN][1000 genomes]
rs2091171	0.90[ASN][1000 genomes]
rs2098315	0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2098316	0.90[ASN][1000 genomes]
rs2110526	0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2110528	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2160125	0.82[CHB][hapmap]
rs2391443	0.90[ASN][1000 genomes]
rs2391445	0.82[CHB][hapmap]
rs2391446	0.82[CHB][hapmap]
rs2391447	0.82[CHB][hapmap]
rs2391452	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2391453	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2391454	0.82[CHB][hapmap]
rs28416309	0.87[ASN][1000 genomes]
rs28429439	0.90[ASN][1000 genomes]
rs34886410	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3823946	0.88[CEU][hapmap]
rs3847001	0.90[ASN][1000 genomes]
rs3925338	0.82[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs4140899	0.82[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs42085	1.00[JPT][hapmap]
rs42099	1.00[JPT][hapmap]
rs4348389	0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4719898	0.90[ASN][1000 genomes]
rs4719900	0.90[ASN][1000 genomes]
rs4719902	0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4722719	0.82[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4722724	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs4722728	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs56139857	0.81[ASN][1000 genomes]
rs58747588	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6415251	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6462026	0.90[ASN][1000 genomes]
rs6462029	0.82[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6462031	0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6462032	0.90[ASN][1000 genomes]
rs6462034	0.82[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs6462036	0.97[ASN][1000 genomes]
rs6462037	0.82[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs6462038	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs6462039	0.82[CHB][hapmap]
rs6943883	0.82[CHB][hapmap]
rs6945993	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs6946075	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6947731	0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6948460	0.81[ASN][1000 genomes]
rs6948814	0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6949496	0.90[ASN][1000 genomes]
rs6954905	0.82[CHB][hapmap]
rs6955074	0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6956484	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6957674	0.90[ASN][1000 genomes]
rs6958747	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap]
rs6959495	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs6960834	0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6961429	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.93[TSI][hapmap]
rs6963421	0.82[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs6963585	0.90[ASN][1000 genomes]
rs6964190	0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6966091	0.82[CHB][hapmap]
rs6966587	0.81[ASN][1000 genomes]
rs6966918	0.90[ASN][1000 genomes]
rs6970104	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs6974052	0.90[ASN][1000 genomes]
rs6974387	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs6974932	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs6980382	0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs723699	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs723700	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7455882	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs759269	0.90[ASN][1000 genomes]
rs7778320	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7779240	0.90[ASN][1000 genomes]
rs7779990	0.82[CHB][hapmap]
rs7780431	0.90[ASN][1000 genomes]
rs7783447	0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7789788	0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7790498	0.87[ASN][1000 genomes]
rs7805086	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7806415	0.82[CHB][hapmap]
rs7806605	0.90[ASN][1000 genomes]
rs7806812	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7811436	0.97[ASN][1000 genomes]
rs940525	0.90[ASN][1000 genomes]
rs940526	0.90[ASN][1000 genomes]
rs961723	0.82[CHB][hapmap]
rs961724	0.82[CHB][hapmap]
rs961725	0.82[CHB][hapmap]
rs9639552	0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs9639553	0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs9639560	0.90[ASN][1000 genomes]
rs978447	0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs986706	0.82[CHB][hapmap];1.00[JPT][hapmap]

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

No data

Chromatin state (count:63 , 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	chr7:27644200-27655400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr7:27644400-27658400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr7:27645400-27655600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr7:27646000-27655200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr7:27646200-27651800	Enhancers	Hela-S3	cervix
18	chr7:27646200-27655600	Weak transcription	Fetal Muscle Leg	muscle
19	chr7:27646200-27657800	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr7:27646400-27650800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr7:27646400-27650800	Weak transcription	NHDF-Ad	bronchial
22	chr7:27646400-27654800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:27646400-27655600	Weak transcription	Fetal Stomach	stomach
24	chr7:27646600-27656600	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr7:27646600-27658400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr7:27646800-27650200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr7:27646800-27650400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr7:27646800-27655600	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr7:27646800-27657800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr7:27646800-27658800	Weak transcription	Osteobl	bone
31	chr7:27646800-27659600	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr7:27647000-27650400	Weak transcription	Fetal Lung	lung
33	chr7:27647000-27655800	Weak transcription	Ovary	ovary
34	chr7:27647000-27657200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr7:27647000-27660200	Weak transcription	Small Intestine	intestine
36	chr7:27647200-27650800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr7:27647200-27655600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr7:27647200-27655600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr7:27648600-27650800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr7:27648600-27655600	Weak transcription	HepG2	liver
41	chr7:27648600-27659800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr7:27648800-27650200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr7:27648800-27657800	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr7:27648800-27658200	Weak transcription	Rectal Smooth Muscle	rectum
45	chr7:27648800-27658200	Weak transcription	HSMMtube	muscle
46	chr7:27649000-27650400	Weak transcription	HMEC	breast
47	chr7:27649000-27650800	Weak transcription	Liver	Liver
48	chr7:27649000-27651000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr7:27649000-27655800	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr7:27649000-27658400	Weak transcription	HUES64 Cell Line	embryonic stem cell

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