Variant report

Variant	rs11182986
Chromosome Location	chr12:45733592-45733593
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	chr12:45732454..45735038-chr12:45737600..45739582,2	K562	blood:
2	chr12:45728847..45732311-chr12:45733300..45736387,3	K562	blood:

Variant related genes	Relation type
ENSG00000177119	Chromatin interaction

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs1015626	0.90[TSI][hapmap]
rs10431612	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10459293	0.80[JPT][hapmap]
rs10459294	0.80[JPT][hapmap]
rs10492284	0.80[JPT][hapmap]
rs10785556	0.80[JPT][hapmap]
rs10785566	0.90[TSI][hapmap]
rs10785569	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];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10880758	0.80[JPT][hapmap]
rs10880768	0.80[JPT][hapmap]
rs10880774	0.82[JPT][hapmap]
rs10880775	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10880777	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182898	0.80[JPT][hapmap]
rs11182904	0.80[JPT][hapmap]
rs11182916	0.80[JPT][hapmap]
rs11182927	0.80[JPT][hapmap]
rs11182931	0.80[JPT][hapmap]
rs11182957	0.80[JPT][hapmap]
rs11182961	0.80[JPT][hapmap]
rs11182965	0.80[JPT][hapmap];0.90[TSI][hapmap]
rs11182983	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182988	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182989	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182990	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182991	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11182995	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11182996	1.00[CEU][hapmap];0.89[CHB][hapmap];0.93[JPT][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11182998	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11183002	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11183005	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11183006	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11183007	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11183010	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11183011	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11183013	1.00[CEU][hapmap];0.83[CHB][hapmap];0.93[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11183014	1.00[CEU][hapmap];0.89[CHB][hapmap];0.92[CHD][hapmap];0.86[GIH][hapmap];0.87[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11183017	1.00[CEU][hapmap];0.84[CHB][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11183021	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11183023	1.00[CEU][hapmap];0.84[CHB][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11183029	1.00[CEU][hapmap];0.84[CHB][hapmap];0.92[CHD][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11183037	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11183038	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11183042	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11533629	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11543435	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11553695	1.00[CEU][hapmap];0.84[CHB][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11610233	0.80[JPT][hapmap]
rs11611509	0.80[JPT][hapmap]
rs11612233	0.80[JPT][hapmap]
rs11614082	0.80[JPT][hapmap]
rs12227678	0.80[JPT][hapmap]
rs12228410	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12228733	0.80[JPT][hapmap]
rs12231770	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12297071	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12303119	1.00[ASW][hapmap];0.88[YRI][hapmap]
rs12313889	1.00[ASW][hapmap];0.88[YRI][hapmap]
rs12322087	0.80[JPT][hapmap]
rs12809159	1.00[CEU][hapmap];0.88[CHB][hapmap];0.93[JPT][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12818836	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12829186	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13378014	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17095557	0.80[JPT][hapmap]
rs17095868	0.85[CHD][hapmap]
rs1863549	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.92[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1913696	0.95[CHD][hapmap];0.93[JPT][hapmap];0.91[ASN][1000 genomes]
rs2090230	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2162322	0.82[CEU][hapmap];0.89[CHB][hapmap];0.81[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2408185	0.80[JPT][hapmap]
rs34321530	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34547270	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35054776	0.80[JPT][hapmap]
rs35168706	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35213944	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35847979	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3759082	0.80[JPT][hapmap]
rs3782131	0.80[JPT][hapmap]
rs3803178	0.82[CEU][hapmap];0.89[CHB][hapmap];0.92[CHD][hapmap];0.92[GIH][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3803179	0.82[CEU][hapmap];0.84[CHB][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs58640880	0.86[EUR][1000 genomes]
rs7138247	0.90[TSI][hapmap]
rs71461108	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7307262	0.90[TSI][hapmap]
rs7309615	0.90[TSI][hapmap]
rs7954282	0.80[JPT][hapmap]
rs7958429	0.82[JPT][hapmap]
rs7965430	0.90[TSI][hapmap]
rs7977798	0.85[CHD][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	nsv1050923	chr12:45581310-45808289	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers 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	10 gene(s)	inside rSNPs	diseases
2	nsv826357	chr12:45691091-45740769	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45676400-45740400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr12:45680000-45736800	Weak transcription	Fetal Intestine Small	intestine
3	chr12:45693000-45744000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr12:45695200-45741800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr12:45696400-45736600	Weak transcription	HepG2	liver
6	chr12:45698000-45744400	Weak transcription	Fetal Brain Male	brain
7	chr12:45699000-45741800	Weak transcription	Primary B cells from peripheral blood	blood
8	chr12:45699800-45747800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr12:45700000-45743600	Weak transcription	Gastric	stomach
10	chr12:45701400-45743400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr12:45707200-45740600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr12:45708600-45742000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr12:45709200-45743600	Weak transcription	Spleen	Spleen
14	chr12:45709800-45741800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr12:45709800-45743800	Weak transcription	Fetal Stomach	stomach
16	chr12:45710200-45741800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr12:45710400-45736600	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr12:45710400-45741400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr12:45720600-45741800	Weak transcription	Pancreas	Pancrea
20	chr12:45720600-45743600	Weak transcription	Lung	lung
21	chr12:45720800-45741800	Weak transcription	Small Intestine	intestine
22	chr12:45722000-45736400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr12:45722000-45736600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr12:45722200-45735400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr12:45722200-45735800	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr12:45722200-45736400	Weak transcription	HUVEC	blood vessel
27	chr12:45722200-45744400	Weak transcription	Esophagus	oesophagus
28	chr12:45723400-45740600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr12:45723800-45757000	Weak transcription	Brain Hippocampus Middle	brain
30	chr12:45725800-45782000	Weak transcription	Brain Angular Gyrus	brain
31	chr12:45726000-45740400	Weak transcription	GM12878-XiMat	blood
32	chr12:45726000-45741800	Weak transcription	Fetal Kidney	kidney
33	chr12:45726000-45743400	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr12:45726600-45737000	Weak transcription	Primary hematopoietic stem cells	blood
35	chr12:45726600-45740200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr12:45726600-45740400	Weak transcription	Fetal Muscle Trunk	muscle
37	chr12:45726600-45741600	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr12:45726600-45741600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr12:45726600-45741800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr12:45726600-45747200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr12:45726800-45735800	Weak transcription	Thymus	Thymus
42	chr12:45726800-45737000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr12:45726800-45740400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr12:45726800-45740400	Weak transcription	Fetal Intestine Large	intestine
45	chr12:45726800-45740600	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr12:45726800-45740600	Weak transcription	Dnd41	blood
47	chr12:45726800-45741800	Weak transcription	Fetal Lung	lung
48	chr12:45726800-45742000	Weak transcription	Duodenum Mucosa	Duodenum
49	chr12:45726800-45743400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr12:45727400-45740400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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