Variant report

Variant	rs73066169
Chromosome Location	chr12:12018349-12018350
allele	C/T
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	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73066136	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs73066159	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73066167	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73066171	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:102 , 50 per page) page: 1 2 3

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	chr12:11993000-12019000	Weak transcription	A549	lung
5	chr12:11996400-12022600	Weak transcription	HSMM	muscle
6	chr12:12005000-12022400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr12:12008800-12018600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr12:12009000-12018800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr12:12009400-12030800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr12:12009600-12019400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr12:12010400-12019200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr12:12010600-12019000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr12:12011000-12018800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:12013400-12019000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr12:12014000-12019400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr12:12014400-12020600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr12:12014600-12018600	Weak transcription	Fetal Muscle Trunk	muscle
18	chr12:12014600-12019000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr12:12014600-12030600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr12:12014600-12030800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr12:12015000-12018600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr12:12015000-12018800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:12015000-12022200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr12:12015200-12018800	Weak transcription	HepG2	liver
25	chr12:12015400-12022200	Weak transcription	Esophagus	oesophagus
26	chr12:12015600-12019000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr12:12016000-12018800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr12:12016600-12018600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:12016600-12019400	Weak transcription	NH-A	brain
30	chr12:12016600-12019800	ZNF genes & repeats	GM12878-XiMat	blood
31	chr12:12016600-12022600	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr12:12016800-12018800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr12:12016800-12019600	ZNF genes & repeats	Dnd41	blood
34	chr12:12016800-12021800	Weak transcription	Lung	lung
35	chr12:12017000-12018800	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr12:12017000-12019200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr12:12017000-12019200	Weak transcription	Fetal Lung	lung
38	chr12:12017000-12020800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr12:12017000-12022200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr12:12017000-12022200	Weak transcription	Gastric	stomach
41	chr12:12017200-12018800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr12:12017200-12018800	Weak transcription	Fetal Kidney	kidney
43	chr12:12017200-12018800	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr12:12017200-12018800	Weak transcription	Small Intestine	intestine
45	chr12:12017200-12019000	Weak transcription	Aorta	Aorta
46	chr12:12017200-12019200	Weak transcription	Psoas Muscle	Psoas
47	chr12:12017200-12019200	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr12:12017200-12019200	Weak transcription	Right Ventricle	heart
49	chr12:12017200-12019200	Weak transcription	HSMMtube	muscle
50	chr12:12017200-12019400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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