Variant report

Variant	rs1882492
Chromosome Location	chr12:104888494-104888495
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:104887555..104889139-chr12:104891204..104893677,2	K562	blood:
2	chr12:104876677..104879866-chr12:104887122..104889642,3	K562	blood:
3	chr12:104878866..104881673-chr12:104885573..104889432,3	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10778336	0.86[CHB][hapmap];0.85[CHD][hapmap];0.82[JPT][hapmap];0.83[TSI][hapmap];0.86[ASN][1000 genomes]
rs10778337	0.82[AFR][1000 genomes]
rs10778338	0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs10778339	0.82[ASN][1000 genomes]
rs10861226	0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs10861227	0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs10861228	0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs10861229	0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs10861230	0.82[ASN][1000 genomes]
rs11112078	0.85[ASN][1000 genomes]
rs11112084	0.84[ASN][1000 genomes]
rs12306445	0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs1619845	0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs1704907	0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs1704909	0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs1795848	0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs1795849	0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs1795850	0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs1795873	0.82[JPT][hapmap]
rs1882493	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1882496	0.96[CEU][hapmap];0.81[TSI][hapmap]
rs1882497	0.96[CEU][hapmap];0.81[TSI][hapmap]
rs2103391	0.96[CEU][hapmap];0.81[CHB][hapmap];0.80[CHD][hapmap];0.91[GIH][hapmap];0.97[TSI][hapmap];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2141857	0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs2141858	0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs2178666	0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs2374399	0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs34760349	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3902812	0.94[EUR][1000 genomes]
rs3902813	0.96[EUR][1000 genomes]
rs3924373	0.84[ASN][1000 genomes]
rs4964811	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs6539155	0.85[CHB][hapmap];0.85[CHD][hapmap];0.82[JPT][hapmap];0.83[TSI][hapmap];0.86[ASN][1000 genomes]
rs7133503	0.84[ASN][1000 genomes]
rs7312273	0.83[ASW][hapmap];0.96[CEU][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7485263	0.83[ASW][hapmap];1.00[CEU][hapmap];0.84[GIH][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7956477	0.89[CHB][hapmap];0.81[JPT][hapmap];0.86[ASN][1000 genomes]
rs7960741	0.93[LWK][hapmap];0.83[TSI][hapmap];0.91[YRI][hapmap]
rs7963874	0.83[TSI][hapmap]
rs7971806	0.96[EUR][1000 genomes]
rs7976717	0.91[ASW][hapmap];0.92[CEU][hapmap];0.84[GIH][hapmap];0.97[TSI][hapmap];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
3	nsv868	chr12:104858964-104895572	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1042647	chr12:104861494-104888494	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 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	chr12:104873200-104895400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr12:104875200-104895400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr12:104875200-104897000	Weak transcription	NHEK	skin
5	chr12:104875400-104904200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:104879600-104893200	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr12:104880000-104890800	Weak transcription	Colonic Mucosa	Colon
8	chr12:104880000-104893000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:104880000-104897800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:104880600-104889000	Weak transcription	Fetal Stomach	stomach
11	chr12:104880600-104897000	Weak transcription	Stomach Smooth Muscle	stomach
12	chr12:104881000-104889600	Weak transcription	Brain Hippocampus Middle	brain
13	chr12:104881200-104890600	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr12:104881400-104890000	Weak transcription	Fetal Muscle Leg	muscle
15	chr12:104881600-104898600	Weak transcription	A549	lung
16	chr12:104882600-104888800	Weak transcription	Fetal Lung	lung
17	chr12:104882600-104889800	Weak transcription	Fetal Heart	heart
18	chr12:104882600-104893200	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr12:104882600-104900600	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr12:104884200-104890800	Weak transcription	Right Ventricle	heart
21	chr12:104884200-104898000	Weak transcription	Gastric	stomach
22	chr12:104885400-104891200	Genic enhancers	Dnd41	blood
23	chr12:104886800-104888600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr12:104886800-104888800	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr12:104887000-104888600	Enhancers	NHDF-Ad	bronchial
26	chr12:104887000-104888800	Genic enhancers	Thymus	Thymus
27	chr12:104887000-104889200	Enhancers	Brain Anterior Caudate	brain
28	chr12:104887000-104889800	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr12:104887200-104888600	Enhancers	HSMMtube	muscle
30	chr12:104887200-104889000	Enhancers	Adipose Nuclei	Adipose
31	chr12:104887200-104891200	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr12:104887200-104903000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr12:104887400-104888600	Weak transcription	Pancreas	Pancrea
34	chr12:104887400-104888800	Enhancers	Primary hematopoietic stem cells	blood
35	chr12:104887600-104889200	Flanking Active TSS	Osteobl	bone
36	chr12:104887600-104899400	Enhancers	Fetal Thymus	thymus
37	chr12:104887800-104888800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr12:104887800-104888800	Flanking Active TSS	K562	blood
39	chr12:104887800-104889000	Flanking Active TSS	Primary T cells from cord blood	blood
40	chr12:104887800-104889000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
41	chr12:104887800-104889200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr12:104887800-104889200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
43	chr12:104887800-104889200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr12:104887800-104889800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr12:104887800-104891000	Weak transcription	Primary B cells from cord blood	blood
46	chr12:104888000-104888800	Active TSS	Aorta	Aorta
47	chr12:104888000-104889000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr12:104888000-104889000	Active TSS	Rectal Mucosa Donor 29	rectum
49	chr12:104888000-104889200	Enhancers	Primary neutrophils fromperipheralblood	blood
50	chr12:104888000-104890400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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