Variant report

Variant	rs73227042
Chromosome Location	chr12:121212782-121212783
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:121208540..121211022-chr12:121211135..121213895,3	K562	blood:
2	chr12:121211334..121215369-chr12:121217344..121221098,3	K562	blood:
3	chr12:121212492..121214058-chr12:121280617..121282475,2	MCF-7	breast:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs73222797	1.00[AFR][1000 genomes]
rs73225099	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73229137	1.00[AMR][1000 genomes];1.00[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	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription 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 miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv560438	chr12:121194565-121352206	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121196800-121212800	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr12:121197400-121220000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:121197800-121220400	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr12:121198400-121220800	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr12:121200200-121213000	Strong transcription	Fetal Stomach	stomach
6	chr12:121200600-121222600	Strong transcription	Fetal Muscle Trunk	muscle
7	chr12:121201200-121217600	Strong transcription	Primary T cells from cord blood	blood
8	chr12:121204400-121220200	Weak transcription	NHDF-Ad	bronchial
9	chr12:121204800-121213800	Strong transcription	Fetal Intestine Large	intestine
10	chr12:121205200-121221000	Weak transcription	Stomach Mucosa	stomach
11	chr12:121205600-121213800	Strong transcription	Rectal Mucosa Donor 29	rectum
12	chr12:121206000-121219400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr12:121206200-121238600	Weak transcription	Small Intestine	intestine
14	chr12:121206400-121213400	Strong transcription	Fetal Intestine Small	intestine
15	chr12:121206600-121219800	Weak transcription	Fetal Brain Male	brain
16	chr12:121206600-121220400	Weak transcription	NH-A	brain
17	chr12:121206600-121220600	Weak transcription	NHLF	lung
18	chr12:121206800-121218600	Weak transcription	A549	lung
19	chr12:121206800-121218800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr12:121206800-121219400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr12:121206800-121219400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr12:121206800-121220000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr12:121206800-121220600	Weak transcription	Hela-S3	cervix
24	chr12:121207000-121213600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr12:121207000-121214000	Weak transcription	Primary hematopoietic stem cells	blood
26	chr12:121207000-121218600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr12:121207000-121220000	Weak transcription	K562	blood
28	chr12:121207000-121220200	Weak transcription	Rectal Smooth Muscle	rectum
29	chr12:121207000-121223800	Weak transcription	Pancreas	Pancrea
30	chr12:121207200-121213800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr12:121207200-121214200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr12:121207200-121216800	Weak transcription	HSMM	muscle
33	chr12:121207200-121218200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr12:121207200-121218200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr12:121207200-121218800	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr12:121207200-121219200	Weak transcription	Brain Germinal Matrix	brain
37	chr12:121207200-121219600	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr12:121207200-121220400	Weak transcription	Colon Smooth Muscle	Colon
39	chr12:121207200-121220400	Weak transcription	HMEC	breast
40	chr12:121207200-121220400	Weak transcription	NHEK	skin
41	chr12:121207200-121221800	Weak transcription	Colonic Mucosa	Colon
42	chr12:121207200-121225000	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr12:121207200-121226200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr12:121207200-121233000	Weak transcription	HSMMtube	muscle
45	chr12:121207400-121218800	Weak transcription	Osteobl	bone
46	chr12:121207400-121220800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr12:121209200-121224200	Weak transcription	Brain Cingulate Gyrus	brain
48	chr12:121209400-121217600	Strong transcription	Primary B cells from peripheral blood	blood
49	chr12:121209400-121218600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr12:121209400-121236800	Weak transcription	Placenta Amnion	Placenta Amnion

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