Variant report

Variant	rs71581965
Chromosome Location	chr12:21643039-21643040
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:21642768..21647284-chr12:21648642..21652273,4	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11835261	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17627175	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71539408	0.83[EUR][1000 genomes]
rs71539409	0.83[EUR][1000 genomes]
rs71581963	0.83[EUR][1000 genomes]
rs71581964	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898896	chr12:21561645-21695584	Strong transcription Bivalent Enhancer Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1043936	chr12:21562673-21979030	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv557741	chr12:21578559-22169854	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv1054220	chr12:21612158-21692103	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1036084	chr12:21631009-21792756	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21595800-21650000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:21607000-21645800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:21611000-21652800	Weak transcription	Small Intestine	intestine
4	chr12:21611000-21653600	Weak transcription	Esophagus	oesophagus
5	chr12:21614800-21652800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr12:21617000-21653000	Weak transcription	Colonic Mucosa	Colon
7	chr12:21619800-21652200	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr12:21619800-21652400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr12:21619800-21652400	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr12:21620200-21652600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:21620600-21652200	Strong transcription	Primary B cells from peripheral blood	blood
12	chr12:21623200-21649400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr12:21628200-21649200	Weak transcription	HepG2	liver
14	chr12:21630400-21652000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr12:21630400-21652400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr12:21632000-21649000	Weak transcription	Psoas Muscle	Psoas
17	chr12:21632600-21646800	Weak transcription	Fetal Intestine Small	intestine
18	chr12:21633800-21645400	Weak transcription	Gastric	stomach
19	chr12:21633800-21645600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr12:21633800-21645600	Weak transcription	Fetal Stomach	stomach
21	chr12:21633800-21645600	Weak transcription	Right Ventricle	heart
22	chr12:21633800-21647000	Weak transcription	Pancreas	Pancrea
23	chr12:21633800-21647000	Weak transcription	Spleen	Spleen
24	chr12:21633800-21647400	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr12:21633800-21648600	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr12:21634200-21649000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr12:21635200-21646200	Weak transcription	Fetal Kidney	kidney
28	chr12:21635600-21649000	Weak transcription	Aorta	Aorta
29	chr12:21635800-21645400	Weak transcription	Brain Germinal Matrix	brain
30	chr12:21635800-21645400	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr12:21635800-21647000	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr12:21635800-21647000	Weak transcription	Hela-S3	cervix
33	chr12:21636000-21647600	Weak transcription	Brain Cingulate Gyrus	brain
34	chr12:21636000-21649600	Weak transcription	Fetal Brain Male	brain
35	chr12:21636200-21652800	Weak transcription	K562	blood
36	chr12:21636400-21653400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr12:21636400-21653800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr12:21636600-21646600	Weak transcription	Rectal Smooth Muscle	rectum
39	chr12:21636600-21646800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr12:21636800-21647200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr12:21638000-21645600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr12:21638200-21651200	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr12:21638600-21644800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr12:21639000-21646600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr12:21639000-21651400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr12:21639400-21644600	Weak transcription	NHDF-Ad	bronchial
47	chr12:21640000-21643600	Strong transcription	Primary B cells from cord blood	blood
48	chr12:21640000-21652200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr12:21640000-21652400	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr12:21640400-21644000	Strong transcription	Muscle Satellite Cultured Cells	--

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