Variant report

Variant	rs11182983
Chromosome Location	chr12:45724789-45724790
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:45606663..45609233-chr12:45722642..45725122,2	K562	blood:

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10431612	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10459293	0.82[JPT][hapmap]
rs10459294	0.82[JPT][hapmap]
rs10459295	0.82[JPT][hapmap]
rs10492284	0.81[JPT][hapmap]
rs10785556	0.80[JPT][hapmap]
rs10785569	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10880758	0.80[JPT][hapmap]
rs10880766	0.80[JPT][hapmap]
rs10880768	0.82[JPT][hapmap]
rs10880774	0.82[JPT][hapmap]
rs10880775	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10880777	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182898	0.81[JPT][hapmap]
rs11182904	0.80[JPT][hapmap]
rs11182916	0.80[JPT][hapmap]
rs11182919	0.82[JPT][hapmap]
rs11182927	0.80[JPT][hapmap]
rs11182931	0.80[JPT][hapmap]
rs11182955	0.81[JPT][hapmap]
rs11182957	0.82[JPT][hapmap]
rs11182961	0.82[JPT][hapmap]
rs11182965	0.80[JPT][hapmap]
rs11182981	0.82[JPT][hapmap]
rs11182986	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];1.00[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182989	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[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	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11182995	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11182996	1.00[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11182998	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11183002	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11183005	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11183006	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11183007	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11183010	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11183011	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11183013	1.00[CEU][hapmap];0.84[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11183014	1.00[CEU][hapmap];0.89[CHB][hapmap];0.87[JPT][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11183017	1.00[CEU][hapmap];0.84[CHB][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11183021	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11183023	1.00[CEU][hapmap];0.84[CHB][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11183029	1.00[CEU][hapmap];0.84[CHB][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11183037	0.92[EUR][1000 genomes]
rs11183038	0.90[EUR][1000 genomes]
rs11183042	0.90[EUR][1000 genomes]
rs11533629	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11543435	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11553695	1.00[CEU][hapmap];0.84[CHB][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11610233	0.82[JPT][hapmap]
rs11611509	0.82[JPT][hapmap]
rs11612233	0.80[JPT][hapmap]
rs11614082	0.82[JPT][hapmap]
rs12228410	0.90[EUR][1000 genomes]
rs12228733	0.82[JPT][hapmap]
rs12231770	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12297071	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12303119	0.88[YRI][hapmap]
rs12313889	0.88[YRI][hapmap]
rs12322087	0.82[JPT][hapmap]
rs12809159	1.00[CEU][hapmap];0.88[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12818836	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12829186	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13378014	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17095557	0.80[JPT][hapmap]
rs1863549	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[JPT][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1913696	0.93[JPT][hapmap];0.91[ASN][1000 genomes]
rs2090230	0.81[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];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2408185	0.81[JPT][hapmap]
rs34321530	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34547270	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35054776	0.80[JPT][hapmap]
rs35168706	0.94[EUR][1000 genomes]
rs35213944	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35847979	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3759082	0.81[JPT][hapmap]
rs3782131	0.80[JPT][hapmap]
rs3803178	0.82[CEU][hapmap];0.89[CHB][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3803179	0.82[CEU][hapmap];0.84[CHB][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs58640880	0.86[EUR][1000 genomes]
rs71461108	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7954282	0.80[JPT][hapmap]
rs7958429	0.82[JPT][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:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45654400-45725600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr12:45676400-45740400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr12:45680000-45736800	Weak transcription	Fetal Intestine Small	intestine
4	chr12:45693000-45744000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr12:45693200-45725400	Weak transcription	Fetal Kidney	kidney
6	chr12:45693600-45730600	Weak transcription	NH-A	brain
7	chr12:45695200-45741800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr12:45696400-45736600	Weak transcription	HepG2	liver
9	chr12:45698000-45744400	Weak transcription	Fetal Brain Male	brain
10	chr12:45698800-45726000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr12:45698800-45726000	Weak transcription	Placenta	Placenta
12	chr12:45699000-45741800	Weak transcription	Primary B cells from peripheral blood	blood
13	chr12:45699400-45725400	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr12:45699800-45747800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr12:45700000-45743600	Weak transcription	Gastric	stomach
16	chr12:45701400-45743400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr12:45704800-45725000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr12:45704800-45725400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr12:45706600-45732400	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr12:45707200-45725600	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr12:45707200-45740600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr12:45708600-45742000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr12:45709200-45743600	Weak transcription	Spleen	Spleen
24	chr12:45709400-45725600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr12:45709800-45725400	Weak transcription	Primary B cells from cord blood	blood
26	chr12:45709800-45725400	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr12:45709800-45725600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr12:45709800-45725600	Weak transcription	Fetal Muscle Trunk	muscle
29	chr12:45709800-45730600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr12:45709800-45741800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr12:45709800-45743800	Weak transcription	Fetal Stomach	stomach
32	chr12:45710200-45725800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr12:45710200-45741800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr12:45710400-45725400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:45710400-45725400	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr12:45710400-45725400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr12:45710400-45725400	Weak transcription	Primary hematopoietic stem cells	blood
38	chr12:45710400-45725400	Weak transcription	Duodenum Mucosa	Duodenum
39	chr12:45710400-45725400	Weak transcription	Dnd41	blood
40	chr12:45710400-45736600	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr12:45710400-45741400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr12:45710600-45725200	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr12:45710600-45725400	Weak transcription	Fetal Intestine Large	intestine
44	chr12:45716400-45725400	Weak transcription	Fetal Thymus	thymus
45	chr12:45716600-45728600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr12:45717600-45725000	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr12:45717600-45725400	Weak transcription	Primary T cells from cord blood	blood
48	chr12:45718800-45730200	Weak transcription	K562	blood
49	chr12:45720600-45741800	Weak transcription	Pancreas	Pancrea
50	chr12:45720600-45743600	Weak transcription	Lung	lung

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