Variant report

Variant	rs73066181
Chromosome Location	chr12:12023843-12023844
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs55717959	0.82[EUR][1000 genomes]
rs73054170	0.83[EUR][1000 genomes]
rs73066159	0.82[EUR][1000 genomes]
rs73066167	0.87[EUR][1000 genomes]
rs73066169	0.87[EUR][1000 genomes]
rs73066171	0.87[EUR][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	nsv832331	chr12:11925095-12114451	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv516796	chr12:12013985-12027745	Genic enhancers Active TSS Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11987600-12038000	Weak transcription	Hela-S3	cervix
2	chr12:12009400-12030800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr12:12014600-12030600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:12014600-12030800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr12:12017200-12030600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr12:12017200-12030800	Weak transcription	NHDF-Ad	bronchial
7	chr12:12018000-12028400	Weak transcription	Brain Hippocampus Middle	brain
8	chr12:12018800-12027200	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr12:12019000-12026400	Strong transcription	Fetal Thymus	thymus
10	chr12:12019400-12027000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr12:12019600-12024800	Strong transcription	Dnd41	blood
12	chr12:12019600-12026800	Strong transcription	Primary B cells from cord blood	blood
13	chr12:12019600-12028000	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr12:12019600-12028200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr12:12019600-12028200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr12:12019600-12028200	Weak transcription	Stomach Mucosa	stomach
17	chr12:12019600-12030600	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr12:12019600-12030600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr12:12019800-12024200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr12:12019800-12025800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr12:12019800-12026800	Strong transcription	Primary B cells from peripheral blood	blood
22	chr12:12019800-12026800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr12:12019800-12027000	Strong transcription	Liver	Liver
24	chr12:12019800-12027200	Strong transcription	GM12878-XiMat	blood
25	chr12:12019800-12030400	Weak transcription	Fetal Heart	heart
26	chr12:12019800-12031200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr12:12020000-12024000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr12:12020000-12026000	Strong transcription	Duodenum Mucosa	Duodenum
29	chr12:12020000-12028200	Weak transcription	Psoas Muscle	Psoas
30	chr12:12020000-12028400	Weak transcription	Brain Anterior Caudate	brain
31	chr12:12020000-12031000	Weak transcription	HepG2	liver
32	chr12:12020000-12037400	Weak transcription	Fetal Brain Female	brain
33	chr12:12020200-12024200	Strong transcription	Fetal Lung	lung
34	chr12:12020200-12028200	Weak transcription	A549	lung
35	chr12:12020200-12039600	Weak transcription	Fetal Kidney	kidney
36	chr12:12020400-12025000	Strong transcription	Thymus	Thymus
37	chr12:12020400-12026000	Strong transcription	Fetal Stomach	stomach
38	chr12:12020400-12027200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr12:12020400-12027200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr12:12020600-12024800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr12:12020600-12025200	Strong transcription	Primary hematopoietic stem cells	blood
42	chr12:12020600-12025400	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr12:12020600-12026400	Strong transcription	Fetal Intestine Large	intestine
44	chr12:12020800-12024000	Strong transcription	Rectal Smooth Muscle	rectum
45	chr12:12020800-12025200	Strong transcription	Fetal Muscle Leg	muscle
46	chr12:12020800-12025400	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr12:12021000-12025600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr12:12021000-12026600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr12:12021200-12025200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr12:12021200-12026000	Strong transcription	Fetal Intestine Small	intestine

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