Variant report

Variant	rs73066171
Chromosome Location	chr12:12019081-12019082
allele	A/G
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	0.95[EUR][1000 genomes]
rs73066136	0.85[EUR][1000 genomes]
rs73066159	0.95[EUR][1000 genomes]
rs73066167	1.00[EUR][1000 genomes]
rs73066169	1.00[EUR][1000 genomes]
rs73066181	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:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11980800-12022600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr12:11987600-12038000	Weak transcription	Hela-S3	cervix
3	chr12:11989400-12023000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr12:11996400-12022600	Weak transcription	HSMM	muscle
5	chr12:12005000-12022400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr12:12009400-12030800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr12:12009600-12019400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr12:12010400-12019200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr12:12014000-12019400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:12014400-12020600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr12:12014600-12030600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr12:12014600-12030800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr12:12015000-12022200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr12:12015400-12022200	Weak transcription	Esophagus	oesophagus
15	chr12:12016600-12019400	Weak transcription	NH-A	brain
16	chr12:12016600-12019800	ZNF genes & repeats	GM12878-XiMat	blood
17	chr12:12016600-12022600	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr12:12016800-12019600	ZNF genes & repeats	Dnd41	blood
19	chr12:12016800-12021800	Weak transcription	Lung	lung
20	chr12:12017000-12019200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr12:12017000-12019200	Weak transcription	Fetal Lung	lung
22	chr12:12017000-12020800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr12:12017000-12022200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr12:12017000-12022200	Weak transcription	Gastric	stomach
25	chr12:12017200-12019200	Weak transcription	Psoas Muscle	Psoas
26	chr12:12017200-12019200	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr12:12017200-12019200	Weak transcription	Right Ventricle	heart
28	chr12:12017200-12019200	Weak transcription	HSMMtube	muscle
29	chr12:12017200-12019400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr12:12017200-12019400	Weak transcription	Fetal Intestine Small	intestine
31	chr12:12017200-12019400	Weak transcription	Left Ventricle	heart
32	chr12:12017200-12019400	Weak transcription	Thymus	Thymus
33	chr12:12017200-12019600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr12:12017200-12022200	Weak transcription	Pancreas	Pancrea
35	chr12:12017200-12022400	Weak transcription	Ovary	ovary
36	chr12:12017200-12022600	Weak transcription	Placenta	Placenta
37	chr12:12017200-12022600	Weak transcription	NHLF	lung
38	chr12:12017200-12030600	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr12:12017200-12030800	Weak transcription	NHDF-Ad	bronchial
40	chr12:12017400-12019200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr12:12017400-12019200	Weak transcription	Primary B cells from cord blood	blood
42	chr12:12017400-12019200	Weak transcription	Duodenum Mucosa	Duodenum
43	chr12:12017400-12019200	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr12:12017400-12019400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr12:12017400-12022200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr12:12017600-12019200	Weak transcription	Brain Substantia Nigra	brain
47	chr12:12017600-12019400	Weak transcription	Rectal Smooth Muscle	rectum
48	chr12:12017600-12019600	Weak transcription	Fetal Stomach	stomach
49	chr12:12017600-12020000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr12:12017800-12019200	Weak transcription	Colon Smooth Muscle	Colon

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