Variant report

Variant	rs56138293
Chromosome Location	chr12:104887628-104887629
allele	A/G
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: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11608669	0.85[ASN][1000 genomes]
rs11609491	0.89[ASN][1000 genomes]
rs17035663	0.89[ASN][1000 genomes]
rs1882494	1.00[ASN][1000 genomes]
rs2141855	0.89[ASN][1000 genomes]
rs2141856	0.89[ASN][1000 genomes]
rs4536299	0.89[ASN][1000 genomes]
rs55778791	0.85[ASN][1000 genomes]
rs56020814	0.89[ASN][1000 genomes]
rs60351248	0.89[ASN][1000 genomes]
rs7970489	0.85[ASN][1000 genomes]
rs7972097	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7972201	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][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:85 , 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	chr12:104875200-104888000	Weak transcription	HMEC	breast
4	chr12:104875200-104895400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:104875200-104897000	Weak transcription	NHEK	skin
6	chr12:104875400-104904200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:104879600-104893200	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr12:104880000-104890800	Weak transcription	Colonic Mucosa	Colon
9	chr12:104880000-104893000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:104880000-104897800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr12:104880600-104889000	Weak transcription	Fetal Stomach	stomach
12	chr12:104880600-104897000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr12:104881000-104887800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr12:104881000-104887800	Weak transcription	HSMM	muscle
15	chr12:104881000-104889600	Weak transcription	Brain Hippocampus Middle	brain
16	chr12:104881200-104890600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr12:104881400-104890000	Weak transcription	Fetal Muscle Leg	muscle
18	chr12:104881600-104898600	Weak transcription	A549	lung
19	chr12:104882200-104887800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr12:104882600-104888000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:104882600-104888800	Weak transcription	Fetal Lung	lung
22	chr12:104882600-104889800	Weak transcription	Fetal Heart	heart
23	chr12:104882600-104893200	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr12:104882600-104900600	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr12:104883200-104888000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr12:104883400-104887800	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr12:104883400-104887800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr12:104883600-104887800	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr12:104883600-104888000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr12:104883800-104887800	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr12:104883800-104888000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr12:104884200-104890800	Weak transcription	Right Ventricle	heart
33	chr12:104884200-104898000	Weak transcription	Gastric	stomach
34	chr12:104884800-104887800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
35	chr12:104884800-104888000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr12:104884800-104888000	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr12:104885000-104888000	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr12:104885400-104891200	Genic enhancers	Dnd41	blood
39	chr12:104885800-104887800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr12:104886800-104887800	Strong transcription	Primary B cells from cord blood	blood
41	chr12:104886800-104887800	Enhancers	Primary T cells from cord blood	blood
42	chr12:104886800-104887800	Genic enhancers	K562	blood
43	chr12:104886800-104888400	Genic enhancers	Primary B cells from peripheral blood	blood
44	chr12:104886800-104888600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr12:104886800-104888800	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr12:104887000-104887800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr12:104887000-104887800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr12:104887000-104887800	Enhancers	Duodenum Mucosa	Duodenum
49	chr12:104887000-104888000	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr12:104887000-104888200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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