Variant report

Variant	rs12228191
Chromosome Location	chr12:11879481-11879482
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	chr12:11878055..11880603-chr12:11888073..11889716,2	K562	blood:
2	chr12:11839323..11841755-chr12:11878975..11881262,2	MCF-7	breast:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1009951	0.91[EUR][1000 genomes]
rs1009953	0.91[EUR][1000 genomes]
rs10743967	0.84[EUR][1000 genomes]
rs10845407	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10845408	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10845410	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11054421	0.87[EUR][1000 genomes]
rs11054423	0.87[EUR][1000 genomes]
rs11054424	0.87[EUR][1000 genomes]
rs11054429	0.89[EUR][1000 genomes]
rs11054433	0.84[EUR][1000 genomes]
rs11054439	0.81[EUR][1000 genomes]
rs12369491	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12828066	0.81[AMR][1000 genomes]
rs17818461	0.90[EUR][1000 genomes]
rs17818498	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17818624	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2051525	0.83[EUR][1000 genomes]
rs2187641	0.94[EUR][1000 genomes]
rs2187642	0.82[EUR][1000 genomes]
rs2416882	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2416883	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2724588	0.87[EUR][1000 genomes]
rs2724599	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2724600	0.83[EUR][1000 genomes]
rs2724616	0.89[EUR][1000 genomes]
rs2724618	0.82[EUR][1000 genomes]
rs2724633	0.85[ASN][1000 genomes]
rs2724645	0.91[EUR][1000 genomes]
rs2724648	0.87[EUR][1000 genomes]
rs2856321	0.87[EUR][1000 genomes]
rs2856322	0.82[EUR][1000 genomes]
rs2856324	0.93[EUR][1000 genomes]
rs2856338	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2856344	0.91[EUR][1000 genomes]
rs2860431	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2900208	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2954980	0.87[EUR][1000 genomes]
rs4763719	0.94[EUR][1000 genomes]
rs4763720	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4763721	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7488701	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs762717	0.93[EUR][1000 genomes]
rs972798	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv870039	chr12:11800363-11996598	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11827400-11879800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr12:11848800-11879600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr12:11865800-11879800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr12:11870200-11885000	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr12:11870400-11879600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:11870800-11879800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr12:11870800-11879800	Weak transcription	Fetal Kidney	kidney
8	chr12:11872200-11880200	Weak transcription	Fetal Brain Male	brain
9	chr12:11872800-11880000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr12:11873000-11882000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr12:11873000-11882800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr12:11873200-11881000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr12:11873200-11881000	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr12:11873200-11902400	Weak transcription	Brain Cingulate Gyrus	brain
15	chr12:11873200-11909400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr12:11873400-11880600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr12:11873400-11894200	Weak transcription	NHLF	lung
18	chr12:11873600-11881000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:11873800-11881200	Weak transcription	Osteobl	bone
20	chr12:11874200-11885400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr12:11875000-11888600	Enhancers	Primary B cells from peripheral blood	blood
22	chr12:11875600-11883400	Enhancers	Stomach Mucosa	stomach
23	chr12:11876400-11879600	Enhancers	Fetal Muscle Leg	muscle
24	chr12:11876400-11880600	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr12:11876600-11879800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr12:11876600-11880200	Enhancers	Spleen	Spleen
27	chr12:11876600-11884200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr12:11876800-11880800	Enhancers	Fetal Muscle Trunk	muscle
29	chr12:11876800-11885800	Enhancers	Pancreas	Pancrea
30	chr12:11877000-11880000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr12:11877000-11880200	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
32	chr12:11877200-11879800	Weak transcription	Esophagus	oesophagus
33	chr12:11877200-11879800	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr12:11877400-11879800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:11877400-11879800	Weak transcription	Gastric	stomach
36	chr12:11877400-11880400	Weak transcription	Fetal Intestine Large	intestine
37	chr12:11877400-11883400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr12:11877400-11883400	Weak transcription	Psoas Muscle	Psoas
39	chr12:11877400-11883800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr12:11877400-11886600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr12:11877600-11879800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr12:11877600-11881200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr12:11877600-11883800	Weak transcription	Aorta	Aorta
44	chr12:11877800-11879800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr12:11877800-11880200	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr12:11877800-11881000	Weak transcription	K562	blood
47	chr12:11877800-11882200	Weak transcription	Colonic Mucosa	Colon
48	chr12:11877800-11883000	Weak transcription	Placenta	Placenta
49	chr12:11878000-11879600	Weak transcription	Brain Hippocampus Middle	brain
50	chr12:11878000-11879800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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