Variant report

Variant	rs7488701
Chromosome Location	chr12:11878636-11878637
allele	C/T
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:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1009951	0.89[JPT][hapmap];0.91[EUR][1000 genomes]
rs1009953	0.80[JPT][hapmap];0.91[EUR][1000 genomes]
rs10743967	0.84[EUR][1000 genomes]
rs10845407	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10845408	1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10845410	0.81[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	0.89[JPT][hapmap];0.84[EUR][1000 genomes]
rs11054439	0.81[EUR][1000 genomes]
rs12228191	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12369491	0.89[CHB][hapmap];0.89[JPT][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17818461	0.90[EUR][1000 genomes]
rs17818498	0.90[EUR][1000 genomes]
rs17818624	0.82[EUR][1000 genomes]
rs2051525	0.83[JPT][hapmap];0.83[EUR][1000 genomes]
rs2187641	0.94[EUR][1000 genomes]
rs2187642	0.82[EUR][1000 genomes]
rs2416882	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2416883	0.97[EUR][1000 genomes]
rs2724588	0.87[EUR][1000 genomes]
rs2724599	0.81[AMR][1000 genomes];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	0.84[CHB][hapmap];0.85[ASN][1000 genomes]
rs2724645	0.85[JPT][hapmap];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	0.94[CHB][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2856344	0.85[JPT][hapmap];0.91[EUR][1000 genomes]
rs2860431	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2900208	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2954980	0.87[EUR][1000 genomes]
rs4763719	0.94[JPT][hapmap];0.94[EUR][1000 genomes]
rs4763720	0.93[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4763721	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs762717	0.93[EUR][1000 genomes]
rs972798	0.89[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:107 , 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	chr12:11865200-11879400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr12:11865800-11879800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr12:11870200-11885000	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr12:11870400-11879600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:11870800-11879800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr12:11870800-11879800	Weak transcription	Fetal Kidney	kidney
9	chr12:11872200-11880200	Weak transcription	Fetal Brain Male	brain
10	chr12:11872800-11879400	Weak transcription	Primary T cells from cord blood	blood
11	chr12:11872800-11880000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr12:11873000-11879000	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr12:11873000-11882000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr12:11873000-11882800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr12:11873200-11881000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:11873200-11881000	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr12:11873200-11902400	Weak transcription	Brain Cingulate Gyrus	brain
18	chr12:11873200-11909400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr12:11873400-11878800	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr12:11873400-11880600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr12:11873400-11894200	Weak transcription	NHLF	lung
22	chr12:11873600-11881000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr12:11873800-11878800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr12:11873800-11881200	Weak transcription	Osteobl	bone
25	chr12:11874200-11885400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr12:11874400-11878800	Enhancers	Small Intestine	intestine
27	chr12:11875000-11888600	Enhancers	Primary B cells from peripheral blood	blood
28	chr12:11875400-11879200	Genic enhancers	Fetal Thymus	thymus
29	chr12:11875600-11879400	Enhancers	Duodenum Mucosa	Duodenum
30	chr12:11875600-11883400	Enhancers	Stomach Mucosa	stomach
31	chr12:11875800-11879200	Weak transcription	HepG2	liver
32	chr12:11876400-11879000	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr12:11876400-11879600	Enhancers	Fetal Muscle Leg	muscle
34	chr12:11876400-11880600	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr12:11876600-11878800	Enhancers	Fetal Heart	heart
36	chr12:11876600-11878800	Enhancers	Right Atrium	heart
37	chr12:11876600-11879000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr12:11876600-11879000	Enhancers	Left Ventricle	heart
39	chr12:11876600-11879200	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr12:11876600-11879800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr12:11876600-11880200	Enhancers	Spleen	Spleen
42	chr12:11876600-11884200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr12:11876800-11878800	Enhancers	Lung	lung
44	chr12:11876800-11878800	Enhancers	NH-A	brain
45	chr12:11876800-11879000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr12:11876800-11879000	Enhancers	Rectal Smooth Muscle	rectum
47	chr12:11876800-11879400	Enhancers	Right Ventricle	heart
48	chr12:11876800-11880800	Enhancers	Fetal Muscle Trunk	muscle
49	chr12:11876800-11885800	Enhancers	Pancreas	Pancrea
50	chr12:11877000-11879200	Enhancers	Liver	Liver

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