Variant report

Variant	rs671815
Chromosome Location	chr12:121249004-121249005
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:121240989..121243362-chr12:121247289..121249209,3	K562	blood:

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs1055059	1.00[ASN][1000 genomes]
rs10849777	0.86[GIH][hapmap];1.00[ASN][1000 genomes]
rs10849797	1.00[CEU][hapmap];1.00[GIH][hapmap];0.87[TSI][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065179	1.00[ASN][1000 genomes]
rs11065201	1.00[ASN][1000 genomes]
rs11065207	1.00[ASN][1000 genomes]
rs11065210	1.00[ASN][1000 genomes]
rs11065213	1.00[GIH][hapmap];1.00[ASN][1000 genomes]
rs11065226	1.00[ASN][1000 genomes]
rs11065227	1.00[ASN][1000 genomes]
rs11065228	1.00[ASN][1000 genomes]
rs11065253	1.00[CEU][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065254	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065258	1.00[CEU][hapmap];1.00[GIH][hapmap];0.87[TSI][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065260	1.00[CEU][hapmap];1.00[GIH][hapmap];0.87[TSI][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065267	1.00[CEU][hapmap];1.00[GIH][hapmap];0.87[TSI][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065275	0.86[CEU][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065279	1.00[CEU][hapmap];1.00[GIH][hapmap];0.87[TSI][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065281	0.88[EUR][1000 genomes]
rs11065285	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065288	1.00[CEU][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065291	1.00[CEU][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065294	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065308	1.00[ASN][1000 genomes]
rs11065309	1.00[ASN][1000 genomes]
rs11065315	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs11065318	1.00[ASN][1000 genomes]
rs11065326	1.00[ASN][1000 genomes]
rs11065328	1.00[ASN][1000 genomes]
rs11065334	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs11065347	1.00[ASN][1000 genomes]
rs11065353	1.00[ASN][1000 genomes]
rs1151854	0.82[CEU][hapmap];1.00[ASN][1000 genomes]
rs1151855	1.00[ASN][1000 genomes]
rs1151860	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.89[YRI][hapmap];1.00[ASN][1000 genomes]
rs1151865	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs1186042	1.00[ASN][1000 genomes]
rs12366451	1.00[CEU][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12368617	1.00[ASN][1000 genomes]
rs12370534	1.00[ASN][1000 genomes]
rs1696358	1.00[ASN][1000 genomes]
rs1696362	1.00[CEU][hapmap];1.00[GIH][hapmap];0.87[TSI][hapmap]
rs1718207	1.00[ASN][1000 genomes]
rs1732397	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs1732399	1.00[ASN][1000 genomes]
rs2454728	1.00[ASN][1000 genomes]
rs2701179	1.00[ASN][1000 genomes]
rs497457	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs498255	1.00[CEU][hapmap];0.88[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs513940	0.89[YRI][hapmap];1.00[ASN][1000 genomes]
rs515784	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs519785	1.00[CEU][hapmap];0.84[YRI][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs530162	1.00[CEU][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs554197	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs572009	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs574993	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs581197	1.00[ASN][1000 genomes]
rs581515	0.83[ASW][hapmap];1.00[CEU][hapmap];0.86[LWK][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs582678	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs590556	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs591489	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59818945	1.00[ASN][1000 genomes]
rs61108232	1.00[ASN][1000 genomes]
rs61414515	1.00[ASN][1000 genomes]
rs61624288	1.00[ASN][1000 genomes]
rs626103	0.87[AMR][1000 genomes]
rs627211	1.00[CEU][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs639343	1.00[CEU][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs645661	1.00[CEU][hapmap];1.00[GIH][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.89[YRI][hapmap];1.00[ASN][1000 genomes]
rs645786	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs647336	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];1.00[ASN][1000 genomes]
rs648262	1.00[CEU][hapmap];1.00[GIH][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.85[YRI][hapmap];1.00[ASN][1000 genomes]
rs651156	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs660878	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs708784	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.98[LWK][hapmap];0.89[YRI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs708788	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73409953	1.00[ASN][1000 genomes]
rs73411916	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73413866	1.00[ASN][1000 genomes]
rs73413874	1.00[ASN][1000 genomes]
rs7960932	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv560438	chr12:121194565-121352206	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv1045178	chr12:121231461-121271734	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121211400-121260800	Weak transcription	Gastric	stomach
2	chr12:121221000-121250000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr12:121221200-121249400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr12:121222200-121274000	Weak transcription	Lung	lung
5	chr12:121222600-121249200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr12:121222600-121259000	Weak transcription	Ovary	ovary
7	chr12:121222600-121260800	Weak transcription	Spleen	Spleen
8	chr12:121222600-121268600	Weak transcription	Esophagus	oesophagus
9	chr12:121222600-121268600	Weak transcription	Stomach Smooth Muscle	stomach
10	chr12:121222800-121249400	Weak transcription	HSMM	muscle
11	chr12:121230000-121255200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr12:121234000-121264200	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr12:121234600-121250600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr12:121234600-121263000	Weak transcription	A549	lung
15	chr12:121234800-121250600	Weak transcription	Fetal Brain Female	brain
16	chr12:121235000-121249600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr12:121236400-121259000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr12:121237000-121255400	Weak transcription	Fetal Heart	heart
19	chr12:121237600-121252000	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr12:121237600-121252600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr12:121237800-121253200	Weak transcription	K562	blood
22	chr12:121237800-121253400	Weak transcription	Psoas Muscle	Psoas
23	chr12:121237800-121255600	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr12:121238000-121249400	Weak transcription	HSMMtube	muscle
25	chr12:121238800-121250200	Weak transcription	NH-A	brain
26	chr12:121239200-121251000	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr12:121239200-121252600	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr12:121239200-121252800	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr12:121239200-121255000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr12:121239200-121260600	Weak transcription	Right Atrium	heart
31	chr12:121239400-121249200	Weak transcription	Brain Substantia Nigra	brain
32	chr12:121239400-121250200	Weak transcription	NHEK	skin
33	chr12:121239400-121253000	Weak transcription	Fetal Kidney	kidney
34	chr12:121239400-121255200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr12:121239600-121255200	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr12:121239800-121255200	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr12:121240000-121252800	Weak transcription	Fetal Lung	lung
38	chr12:121240800-121250400	Weak transcription	HepG2	liver
39	chr12:121240800-121260800	Weak transcription	Small Intestine	intestine
40	chr12:121241000-121252000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr12:121241000-121261200	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr12:121241200-121249200	Weak transcription	Brain Hippocampus Middle	brain
43	chr12:121241200-121252000	Weak transcription	HUVEC	blood vessel
44	chr12:121241200-121258400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr12:121241200-121259000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr12:121241800-121255600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr12:121241800-121255800	Weak transcription	Primary T cells from cord blood	blood
48	chr12:121241800-121260800	Weak transcription	Thymus	Thymus
49	chr12:121242400-121259000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr12:121242600-121256400	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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