Variant report

Variant	rs11182991
Chromosome Location	chr12:45738329-45738330
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:45732454..45735038-chr12:45737600..45739582,2	K562	blood:
2	chr12:45736486..45738721-chr12:45739577..45741327,2	K562	blood:
3	chr12:45737306..45740256-chr12:45740506..45742097,2	MCF-7	breast:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10431612	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10785569	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10880775	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10880777	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11182983	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11182986	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11182988	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11182989	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11182990	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11182995	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11182996	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11182998	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11183002	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11183005	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11183006	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11183007	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11183010	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11183011	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11183013	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11183014	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11183017	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11183021	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11183023	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11183029	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11183037	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11183038	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11183042	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11533629	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11543435	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11553695	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12228410	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12231770	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12297071	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12809159	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12818836	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12829186	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13378014	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1863549	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1913696	0.90[ASN][1000 genomes]
rs2090230	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2162322	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34321530	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34547270	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35168706	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35213944	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35847979	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3803178	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3803179	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs58640880	0.88[EUR][1000 genomes]
rs71461108	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]

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:109 , 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	chr12:45693000-45744000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr12:45695200-45741800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr12:45698000-45744400	Weak transcription	Fetal Brain Male	brain
5	chr12:45699000-45741800	Weak transcription	Primary B cells from peripheral blood	blood
6	chr12:45699800-45747800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr12:45700000-45743600	Weak transcription	Gastric	stomach
8	chr12:45701400-45743400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr12:45707200-45740600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr12:45708600-45742000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr12:45709200-45743600	Weak transcription	Spleen	Spleen
12	chr12:45709800-45741800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr12:45709800-45743800	Weak transcription	Fetal Stomach	stomach
14	chr12:45710200-45741800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr12:45710400-45741400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr12:45720600-45741800	Weak transcription	Pancreas	Pancrea
17	chr12:45720600-45743600	Weak transcription	Lung	lung
18	chr12:45720800-45741800	Weak transcription	Small Intestine	intestine
19	chr12:45722200-45744400	Weak transcription	Esophagus	oesophagus
20	chr12:45723400-45740600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr12:45723800-45757000	Weak transcription	Brain Hippocampus Middle	brain
22	chr12:45725800-45782000	Weak transcription	Brain Angular Gyrus	brain
23	chr12:45726000-45740400	Weak transcription	GM12878-XiMat	blood
24	chr12:45726000-45741800	Weak transcription	Fetal Kidney	kidney
25	chr12:45726000-45743400	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr12:45726600-45740200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr12:45726600-45740400	Weak transcription	Fetal Muscle Trunk	muscle
28	chr12:45726600-45741600	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr12:45726600-45741600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr12:45726600-45741800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr12:45726600-45747200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr12:45726800-45740400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr12:45726800-45740400	Weak transcription	Fetal Intestine Large	intestine
34	chr12:45726800-45740600	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr12:45726800-45740600	Weak transcription	Dnd41	blood
36	chr12:45726800-45741800	Weak transcription	Fetal Lung	lung
37	chr12:45726800-45742000	Weak transcription	Duodenum Mucosa	Duodenum
38	chr12:45726800-45743400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr12:45727400-45740400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr12:45727400-45741800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr12:45727800-45740400	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr12:45727800-45740800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr12:45728000-45740400	Weak transcription	Primary B cells from cord blood	blood
44	chr12:45728200-45741800	Weak transcription	Liver	Liver
45	chr12:45728600-45740400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr12:45729800-45741400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr12:45730800-45740400	Weak transcription	Fetal Muscle Leg	muscle
48	chr12:45731000-45742000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr12:45731400-45739800	Weak transcription	Primary T cells from cord blood	blood
50	chr12:45732400-45741800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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