Variant report

Variant	rs11781993
Chromosome Location	chr8:87368925-87368926
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:87361970..87363918-chr8:87368316..87370352,3	MCF-7	breast:
2	chr8:87368633..87369483-chr8:87437204..87437921,2	MCF-7	breast:
3	chr8:87058976..87060492-chr8:87368579..87370645,2	MCF-7	breast:
4	chr8:87136719..87138131-chr8:87367839..87369514,19	MCF-7	breast:
5	chr8:87133855..87135900-chr8:87367338..87370319,2	MCF-7	breast:
6	chr8:87329883..87331903-chr8:87367165..87369926,2	MCF-7	breast:
7	chr8:87361670..87363931-chr8:87364604..87369462,4	K562	blood:
8	chr8:87136561..87139259-chr8:87368853..87370693,2	K562	blood:
9	chr8:87365825..87368474-chr8:87368795..87370608,2	K562	blood:
10	chr8:87136993..87137993-chr8:87368613..87369555,5	K562	blood:
11	chr8:87136992..87138056-chr8:87367918..87369461,8	MCF-7	breast:

No data

Extended variants
information (count: 139 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:134)

rs_ID	r²[population]
rs10086188	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10089169	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs10089253	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10089317	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10090898	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs10092168	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10093867	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10095589	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10097546	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10097866	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10098365	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs10100368	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10100698	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10106390	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10106855	0.93[ASN][1000 genomes]
rs10107117	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10107571	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10108586	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10109032	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10109677	0.94[EUR][1000 genomes]
rs10110323	0.82[EUR][1000 genomes]
rs10113158	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10481195	0.81[ASN][1000 genomes]
rs10504823	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10956820	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10956821	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10956822	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10956871	1.00[CHB][hapmap]
rs11774253	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs11774499	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11776698	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11783382	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs11984519	0.83[EUR][1000 genomes]
rs11986423	0.81[EUR][1000 genomes]
rs11994508	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.87[EUR][1000 genomes]
rs11997927	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs11998558	0.81[ASN][1000 genomes]
rs12155979	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12155981	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12156004	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12216783	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12335013	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12677915	0.86[CEU][hapmap]
rs13265266	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1595207	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs16915375	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16915389	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17681534	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17681826	1.00[CEU][hapmap];0.82[JPT][hapmap];0.87[YRI][hapmap];0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2118070	0.84[CEU][hapmap];0.83[EUR][1000 genomes]
rs28384362	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28397606	0.83[EUR][1000 genomes]
rs28416254	0.83[EUR][1000 genomes]
rs28433311	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28438974	0.82[EUR][1000 genomes]
rs28445847	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28504479	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28680173	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28687116	0.81[EUR][1000 genomes]
rs28715255	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28783474	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2917553	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2917559	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs2917561	0.83[EUR][1000 genomes]
rs2953507	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2953508	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2953512	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2953514	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2953515	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2953518	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2953519	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2953520	0.87[EUR][1000 genomes]
rs2953521	0.91[EUR][1000 genomes]
rs2953523	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs2953524	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs2953526	0.83[EUR][1000 genomes]
rs2954348	0.91[CEU][hapmap];1.00[JPT][hapmap]
rs2976170	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2976173	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2976174	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2976175	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2976176	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2976180	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2976192	0.84[ASN][1000 genomes]
rs2976194	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2976195	0.87[ASN][1000 genomes]
rs2976196	0.87[ASN][1000 genomes]
rs2976199	0.87[ASN][1000 genomes]
rs2976200	0.84[CEU][hapmap]
rs2976202	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3087641	0.83[EUR][1000 genomes]
rs4370511	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4440616	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4628240	0.83[EUR][1000 genomes]
rs4633041	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs55671538	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55871514	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57638937	0.82[EUR][1000 genomes]
rs58837061	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6471266	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs6471284	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6471295	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6471317	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6980476	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6993497	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6993612	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7015772	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7018083	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs73262925	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73262927	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73688817	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73688823	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73688824	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73688827	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73688856	0.81[EUR][1000 genomes]
rs73688857	0.81[EUR][1000 genomes]
rs73688858	0.82[EUR][1000 genomes]
rs73688859	0.82[EUR][1000 genomes]
rs73688862	0.82[EUR][1000 genomes]
rs7815489	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7818436	0.83[EUR][1000 genomes]
rs7823951	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7824873	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7837581	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7837618	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7839096	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7843272	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7843399	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7844014	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7846468	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9297913	0.83[EUR][1000 genomes]
rs9650129	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9656823	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9656824	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529563	chr8:86467090-87381984	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv932023	chr8:86845979-87490694	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv429926	chr8:87161695-87429872	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv3349873	chr8:87185763-87603726	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	esv3360246	chr8:87200232-87419244	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11781993	FAM82B///LOC642197	Cis_1M	lymphoblastoid	RTeQTL
rs11781993	FAM82B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87355800-87405600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:87356800-87403800	Weak transcription	Aorta	Aorta
3	chr8:87357000-87375600	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr8:87357200-87369600	Weak transcription	HSMM	muscle
5	chr8:87357400-87372600	Weak transcription	Fetal Intestine Small	intestine
6	chr8:87357400-87403400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr8:87357600-87374600	Weak transcription	HUVEC	blood vessel
8	chr8:87357600-87382200	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr8:87357800-87381000	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr8:87357800-87382000	Weak transcription	Placenta	Placenta
11	chr8:87357800-87383200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr8:87357800-87413600	Weak transcription	Pancreas	Pancrea
13	chr8:87358000-87369000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr8:87359000-87383600	Weak transcription	Dnd41	blood
15	chr8:87359800-87372600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr8:87360600-87369800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr8:87361800-87369600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr8:87362200-87369600	Enhancers	Stomach Mucosa	stomach
19	chr8:87362400-87378200	Weak transcription	Gastric	stomach
20	chr8:87363600-87369600	Weak transcription	HMEC	breast
21	chr8:87363600-87372600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr8:87363800-87393800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr8:87364000-87371000	Weak transcription	Psoas Muscle	Psoas
24	chr8:87364000-87397400	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr8:87364200-87372600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr8:87364200-87373200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr8:87364600-87370200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr8:87364800-87369400	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr8:87364800-87370000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr8:87364800-87370800	Weak transcription	Left Ventricle	heart
31	chr8:87364800-87371600	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr8:87365000-87372600	Weak transcription	Right Ventricle	heart
33	chr8:87365200-87369200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr8:87365200-87370200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
35	chr8:87365800-87369400	Enhancers	Brain Cingulate Gyrus	brain
36	chr8:87366000-87369200	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr8:87366000-87369800	Weak transcription	Ovary	ovary
38	chr8:87366000-87372600	Weak transcription	Small Intestine	intestine
39	chr8:87366000-87398200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr8:87366400-87369000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr8:87366400-87369200	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr8:87366400-87369400	Enhancers	Primary T cells from cord blood	blood
43	chr8:87366400-87372600	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr8:87366600-87369400	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr8:87366600-87370000	Enhancers	Colon Smooth Muscle	Colon
46	chr8:87366800-87369800	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr8:87366800-87423800	Weak transcription	Colonic Mucosa	Colon
48	chr8:87367000-87370000	Enhancers	Fetal Lung	lung
49	chr8:87367000-87370400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr8:87367200-87369000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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