Variant report

Variant	rs56020814
Chromosome Location	chr12:104896039-104896040
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:104893740..104896062-chr12:104897275..104899084,2	K562	blood:
2	chr12:104858831..104861040-chr12:104895664..104898086,2	K562	blood:
3	chr12:104849161..104852195-chr12:104895253..104897377,3	K562	blood:
4	chr12:104894805..104896698-chr12:104899476..104901179,2	K562	blood:

Variant related genes	Relation type
ENSG00000171310	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11608669	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11609491	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17035663	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1882494	0.89[ASN][1000 genomes]
rs2141855	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2141856	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4536299	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55778791	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56138293	0.89[ASN][1000 genomes]
rs57525859	0.89[ASN][1000 genomes]
rs60351248	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7970489	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7972097	0.89[ASN][1000 genomes]
rs7972201	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832502	chr12:104833729-104908288	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv832504	chr12:104853331-105028245	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104869200-104899600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:104875200-104897000	Weak transcription	NHEK	skin
3	chr12:104875400-104904200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:104880000-104897800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:104880600-104897000	Weak transcription	Stomach Smooth Muscle	stomach
6	chr12:104881600-104898600	Weak transcription	A549	lung
7	chr12:104882600-104900600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr12:104884200-104898000	Weak transcription	Gastric	stomach
9	chr12:104887200-104903000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr12:104887600-104899400	Enhancers	Fetal Thymus	thymus
11	chr12:104888000-104897200	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr12:104888000-104900200	Weak transcription	Brain Substantia Nigra	brain
13	chr12:104888200-104896600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr12:104888800-104897000	Enhancers	Primary B cells from peripheral blood	blood
15	chr12:104888800-104898000	Weak transcription	Aorta	Aorta
16	chr12:104889000-104897400	Enhancers	Primary T cells fromperipheralblood	blood
17	chr12:104889200-104898200	Weak transcription	HSMMtube	muscle
18	chr12:104889800-104899000	Weak transcription	Brain Anterior Caudate	brain
19	chr12:104890000-104903800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:104890200-104896200	Enhancers	Primary hematopoietic stem cells	blood
21	chr12:104890400-104896600	Weak transcription	K562	blood
22	chr12:104890400-104898600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr12:104890400-104898800	Weak transcription	Brain Germinal Matrix	brain
24	chr12:104891200-104898000	Weak transcription	Right Atrium	heart
25	chr12:104891600-104896600	Enhancers	Thymus	Thymus
26	chr12:104892200-104896400	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr12:104892400-104896600	Weak transcription	Primary B cells from cord blood	blood
28	chr12:104892600-104896600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr12:104892600-104899200	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr12:104892600-104900200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr12:104892600-104900800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr12:104892800-104897600	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr12:104893000-104897000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr12:104893000-104898400	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr12:104893000-104904400	Genic enhancers	Dnd41	blood
36	chr12:104893200-104898200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr12:104893200-104898800	Weak transcription	Placenta	Placenta
38	chr12:104893800-104898200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr12:104893800-104900200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr12:104894000-104896200	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr12:104894000-104896600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr12:104894200-104898000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr12:104894400-104896200	Weak transcription	Colon Smooth Muscle	Colon
44	chr12:104894400-104900200	Weak transcription	Fetal Lung	lung
45	chr12:104894400-104900400	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr12:104894400-104903800	Weak transcription	Rectal Smooth Muscle	rectum
47	chr12:104894600-104896400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr12:104894600-104897000	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr12:104894800-104897000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr12:104894800-104899400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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