Variant report

Variant	rs10843801
Chromosome Location	chr12:30804020-30804021
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	chr12:30802041..30804349-chr12:30805097..30807547,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10771749	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10771763	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11051046	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12310942	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2099028	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3888018	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7963524	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7968760	0.81[AMR][1000 genomes]
rs7974251	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3343291	chr12:30455597-30992837	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv832361	chr12:30794030-30997241	Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv949148	chr12:30800040-31131712	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30767000-30844200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:30771000-30812200	Weak transcription	Aorta	Aorta
3	chr12:30771200-30804200	Weak transcription	Fetal Brain Male	brain
4	chr12:30774600-30812000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:30775600-30815400	Weak transcription	Right Ventricle	heart
6	chr12:30775800-30813200	Weak transcription	HMEC	breast
7	chr12:30775800-30815200	Weak transcription	NHEK	skin
8	chr12:30776000-30808400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr12:30779200-30812200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr12:30779800-30825000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr12:30780800-30847000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr12:30781200-30806600	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr12:30781800-30826400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr12:30782400-30814800	Weak transcription	Brain Angular Gyrus	brain
15	chr12:30782400-30821200	Weak transcription	Esophagus	oesophagus
16	chr12:30783800-30827400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr12:30783800-30829000	Weak transcription	Small Intestine	intestine
18	chr12:30784000-30815800	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr12:30784800-30836600	Weak transcription	Fetal Heart	heart
20	chr12:30785000-30847800	Weak transcription	Gastric	stomach
21	chr12:30785200-30846400	Weak transcription	Spleen	Spleen
22	chr12:30785400-30847200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr12:30785800-30809000	Weak transcription	Pancreas	Pancrea
24	chr12:30785800-30813200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr12:30786000-30813000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr12:30786000-30826600	Weak transcription	Colonic Mucosa	Colon
27	chr12:30786800-30808400	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr12:30787200-30805200	Weak transcription	GM12878-XiMat	blood
29	chr12:30787200-30813000	Weak transcription	Ovary	ovary
30	chr12:30787200-30813400	Weak transcription	Brain Substantia Nigra	brain
31	chr12:30787200-30821200	Weak transcription	Rectal Smooth Muscle	rectum
32	chr12:30788000-30821000	Weak transcription	Stomach Mucosa	stomach
33	chr12:30790000-30813000	Weak transcription	Brain Cingulate Gyrus	brain
34	chr12:30790200-30805000	Weak transcription	A549	lung
35	chr12:30790200-30812200	Weak transcription	Brain Anterior Caudate	brain
36	chr12:30790200-30813000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr12:30790400-30813200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr12:30791200-30815600	Weak transcription	Fetal Brain Female	brain
39	chr12:30791200-30825200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr12:30791600-30811000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr12:30792000-30813200	Weak transcription	Psoas Muscle	Psoas
42	chr12:30792600-30808800	Weak transcription	Lung	lung
43	chr12:30792800-30804200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr12:30792800-30804600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr12:30792800-30809000	Weak transcription	Thymus	Thymus
46	chr12:30792800-30812200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr12:30792800-30812200	Weak transcription	Stomach Smooth Muscle	stomach
48	chr12:30793000-30808400	Weak transcription	Fetal Thymus	thymus
49	chr12:30793000-30812200	Weak transcription	Left Ventricle	heart
50	chr12:30793600-30825200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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