Variant report

Variant	rs11992252
Chromosome Location	chr8:67558098-67558099
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 122 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:120)

rs_ID	r²[population]
rs10283103	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs10504393	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11985572	1.00[CEU][hapmap]
rs11986831	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11987253	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11987254	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11987271	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11987311	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11988213	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11990322	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11990331	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11990636	1.00[CEU][hapmap]
rs11992295	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11993306	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[ASN][1000 genomes]
rs11993354	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11994827	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11995031	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11995253	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11995256	1.00[CEU][hapmap]
rs11995291	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11996861	1.00[CEU][hapmap]
rs11997260	1.00[CEU][hapmap]
rs11997554	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11997967	1.00[CEU][hapmap]
rs11998194	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11998301	1.00[CEU][hapmap]
rs12114734	1.00[CEU][hapmap]
rs12114868	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16932983	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16932985	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16932996	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16933013	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16933026	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16933032	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16933034	1.00[CEU][hapmap]
rs16933036	1.00[CEU][hapmap]
rs16933039	1.00[CEU][hapmap]
rs16933057	1.00[CEU][hapmap]
rs16933060	1.00[CEU][hapmap]
rs16933065	1.00[CEU][hapmap]
rs16933071	1.00[CEU][hapmap]
rs16933079	1.00[CEU][hapmap]
rs2357998	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2358000	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.85[EUR][1000 genomes]
rs28432871	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28572179	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28589429	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34301114	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35078037	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35353562	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35517376	1.00[CEU][hapmap]
rs3808602	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3824258	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3857962	1.00[CEU][hapmap]
rs3913346	1.00[CEU][hapmap]
rs3929419	1.00[CEU][hapmap]
rs4345540	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4534119	1.00[CEU][hapmap]
rs56682762	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56742359	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56810217	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56911449	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57125106	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57351080	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57858031	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58454063	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58806068	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59058682	0.88[ASN][1000 genomes]
rs59089124	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59410806	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59643912	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60165103	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60655524	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60784079	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61469007	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61589642	0.88[ASN][1000 genomes]
rs6472285	1.00[CEU][hapmap]
rs6982202	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6982407	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6983632	1.00[CEU][hapmap]
rs6986439	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6986940	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6987665	1.00[CEU][hapmap]
rs6988670	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6991992	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6998252	1.00[CEU][hapmap]
rs6998505	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6998718	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6998777	1.00[CEU][hapmap]
rs7002479	1.00[CEU][hapmap]
rs7003548	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7008740	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7015619	1.00[CEU][hapmap]
rs7017471	1.00[CEU][hapmap]
rs73248113	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73248122	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73248134	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73248138	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73250233	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73250238	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73250241	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73250244	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73250249	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73250250	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73250252	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73250262	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73251887	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73253909	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73253915	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73253964	0.88[ASN][1000 genomes]
rs73253968	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73261704	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73261763	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73261767	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7828492	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7830436	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7840192	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7844944	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs957655	1.00[CHB][hapmap]
rs979679	1.00[CEU][hapmap]

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	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv831346	chr8:67486555-67675324	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67539400-67574000	Weak transcription	Spleen	Spleen
2	chr8:67545200-67562400	Weak transcription	Fetal Heart	heart
3	chr8:67545200-67575200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr8:67545400-67562400	Weak transcription	Fetal Kidney	kidney
5	chr8:67545400-67575000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr8:67545600-67567000	Weak transcription	Small Intestine	intestine
7	chr8:67545600-67574400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr8:67546200-67576800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:67547200-67561000	Weak transcription	Fetal Lung	lung
10	chr8:67547200-67563800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr8:67547200-67574200	Weak transcription	Fetal Brain Male	brain
12	chr8:67547400-67559800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr8:67547400-67561200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr8:67547400-67561600	Weak transcription	A549	lung
15	chr8:67547400-67562000	Weak transcription	HMEC	breast
16	chr8:67547400-67562200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr8:67547400-67562400	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr8:67547400-67562400	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr8:67547400-67574400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr8:67547400-67574400	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr8:67547400-67574600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr8:67547600-67560400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr8:67547600-67560400	Weak transcription	Dnd41	blood
24	chr8:67547600-67560400	Weak transcription	HSMM	muscle
25	chr8:67547600-67560800	Weak transcription	Fetal Muscle Trunk	muscle
26	chr8:67547600-67561000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr8:67547600-67561000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr8:67547600-67561000	Weak transcription	Adipose Nuclei	Adipose
29	chr8:67547600-67561000	Weak transcription	Fetal Intestine Large	intestine
30	chr8:67547600-67561000	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr8:67547600-67561200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr8:67547600-67561400	Weak transcription	GM12878-XiMat	blood
33	chr8:67547600-67561600	Weak transcription	Fetal Brain Female	brain
34	chr8:67547600-67561800	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr8:67547600-67561800	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr8:67547600-67561800	Weak transcription	HSMMtube	muscle
37	chr8:67547600-67562400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr8:67547600-67562400	Weak transcription	HUVEC	blood vessel
39	chr8:67547600-67562600	Weak transcription	K562	blood
40	chr8:67547600-67566200	Weak transcription	Gastric	stomach
41	chr8:67547600-67566200	Weak transcription	Ovary	ovary
42	chr8:67547600-67572200	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr8:67547600-67572400	Weak transcription	Aorta	Aorta
44	chr8:67547600-67573200	Weak transcription	Colon Smooth Muscle	Colon
45	chr8:67547600-67574400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr8:67547600-67575800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr8:67547600-67576600	Weak transcription	Esophagus	oesophagus
48	chr8:67547800-67561400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr8:67547800-67561400	Weak transcription	Colonic Mucosa	Colon
50	chr8:67547800-67574200	Weak transcription	Hela-S3	cervix

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