Variant report

Variant	rs12296144
Chromosome Location	chr12:105384579-105384580
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:105376961..105378683-chr12:105383835..105385377,2	K562	blood:
2	chr12:105379993..105381811-chr12:105382055..105386132,5	K562	blood:
3	chr12:105378619..105382506-chr12:105382781..105387261,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151131	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10161522	0.97[EUR][1000 genomes]
rs10507186	0.88[EUR][1000 genomes]
rs10507187	0.88[EUR][1000 genomes]
rs10507188	0.86[EUR][1000 genomes]
rs11112276	0.97[EUR][1000 genomes]
rs11112277	0.97[EUR][1000 genomes]
rs11112279	0.97[EUR][1000 genomes]
rs11112283	0.92[EUR][1000 genomes]
rs11112303	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112307	0.91[EUR][1000 genomes]
rs11503466	0.91[EUR][1000 genomes]
rs12299385	0.91[EUR][1000 genomes]
rs12299936	0.97[EUR][1000 genomes]
rs12300005	0.91[EUR][1000 genomes]
rs12301432	0.91[EUR][1000 genomes]
rs12306191	0.97[EUR][1000 genomes]
rs12306443	0.97[EUR][1000 genomes]
rs12308952	0.97[EUR][1000 genomes]
rs12310790	0.91[EUR][1000 genomes]
rs12313077	0.97[EUR][1000 genomes]
rs12314995	0.97[EUR][1000 genomes]
rs12315975	0.97[EUR][1000 genomes]
rs12315983	0.97[EUR][1000 genomes]
rs12316001	0.91[EUR][1000 genomes]
rs12319632	0.97[EUR][1000 genomes]
rs12320024	0.97[EUR][1000 genomes]
rs12320195	0.97[EUR][1000 genomes]
rs12320880	0.97[EUR][1000 genomes]
rs12321224	0.97[EUR][1000 genomes]
rs12321226	0.97[EUR][1000 genomes]
rs12321381	0.97[EUR][1000 genomes]
rs17036439	0.83[EUR][1000 genomes]
rs17036463	0.88[EUR][1000 genomes]
rs17036494	0.88[EUR][1000 genomes]
rs17036505	0.88[EUR][1000 genomes]
rs17036509	0.88[EUR][1000 genomes]
rs17036534	0.88[EUR][1000 genomes]
rs17036542	0.88[EUR][1000 genomes]
rs17036549	0.88[EUR][1000 genomes]
rs17036558	0.88[EUR][1000 genomes]
rs17041531	0.91[EUR][1000 genomes]
rs35879768	0.97[EUR][1000 genomes]
rs3812795	0.88[EUR][1000 genomes]
rs3935722	0.91[EUR][1000 genomes]
rs4077312	0.88[EUR][1000 genomes]
rs4268581	0.97[EUR][1000 genomes]
rs4357778	0.91[EUR][1000 genomes]
rs58005679	0.91[EUR][1000 genomes]
rs58447363	0.91[EUR][1000 genomes]
rs58483223	0.88[EUR][1000 genomes]
rs60057011	0.83[EUR][1000 genomes]
rs60096703	0.88[EUR][1000 genomes]
rs60310033	0.83[EUR][1000 genomes]
rs60809012	0.83[EUR][1000 genomes]
rs60956548	0.91[EUR][1000 genomes]
rs61638859	0.88[EUR][1000 genomes]
rs7131977	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73387265	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7970504	0.88[EUR][1000 genomes]
rs9738733	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];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	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv899498	chr12:105173598-105461620	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
3	nsv832505	chr12:105315352-105497765	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv869	chr12:105363425-105394904	Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105380800-105386000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:105380800-105386200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:105380800-105386200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:105380800-105386400	Weak transcription	Esophagus	oesophagus
5	chr12:105381000-105386000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr12:105381000-105386800	Weak transcription	Psoas Muscle	Psoas
7	chr12:105381000-105388600	Weak transcription	Right Ventricle	heart
8	chr12:105381200-105384800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr12:105381400-105385000	Weak transcription	Fetal Heart	heart
10	chr12:105381400-105385600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr12:105381400-105385600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr12:105381400-105386000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr12:105381600-105384600	Weak transcription	Fetal Stomach	stomach
14	chr12:105381600-105384800	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr12:105381600-105384800	Weak transcription	Brain Anterior Caudate	brain
16	chr12:105381600-105385000	Weak transcription	Placenta	Placenta
17	chr12:105381600-105385400	Weak transcription	NHDF-Ad	bronchial
18	chr12:105381600-105385800	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr12:105381600-105385800	Weak transcription	NHLF	lung
20	chr12:105381600-105386000	Weak transcription	Colonic Mucosa	Colon
21	chr12:105381600-105386200	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr12:105381600-105386400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr12:105381600-105387000	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr12:105381600-105388600	Weak transcription	Spleen	Spleen
25	chr12:105381600-105392400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr12:105381600-105392400	Weak transcription	Stomach Mucosa	stomach
27	chr12:105381800-105384600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr12:105381800-105384600	Weak transcription	Pancreas	Pancrea
29	chr12:105381800-105384800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr12:105381800-105384800	Weak transcription	Brain Substantia Nigra	brain
31	chr12:105381800-105384800	Weak transcription	Fetal Intestine Small	intestine
32	chr12:105381800-105385200	Weak transcription	Brain Hippocampus Middle	brain
33	chr12:105381800-105385600	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr12:105381800-105385800	Weak transcription	Brain Cingulate Gyrus	brain
35	chr12:105381800-105385800	Weak transcription	Rectal Smooth Muscle	rectum
36	chr12:105381800-105385800	Weak transcription	NH-A	brain
37	chr12:105381800-105386000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr12:105381800-105386200	Weak transcription	Thymus	Thymus
39	chr12:105381800-105386800	Weak transcription	Fetal Brain Male	brain
40	chr12:105381800-105388200	Weak transcription	HSMMtube	muscle
41	chr12:105381800-105388400	Weak transcription	Aorta	Aorta
42	chr12:105381800-105388400	Weak transcription	Brain Germinal Matrix	brain
43	chr12:105381800-105389200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr12:105381800-105392400	Weak transcription	Right Atrium	heart
45	chr12:105381800-105392800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr12:105381800-105392800	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr12:105381800-105393600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr12:105381800-105398000	Strong transcription	A549	lung
49	chr12:105381800-105407400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr12:105381800-105411400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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