Variant report

Variant	rs10876121
Chromosome Location	chr12:51322730-51322731
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:51317278..51319409-chr12:51321054..51323172,2	K562	blood:
2	chr12:51320296..51325528-chr12:51326081..51329757,6	K562	blood:
3	chr12:51322696..51325064-chr12:51325952..51327620,2	K562	blood:

Variant related genes	Relation type
ENSG00000185432	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10783408	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12809226	0.82[ASN][1000 genomes]
rs12823317	0.82[ASN][1000 genomes]
rs2359187	0.85[ASN][1000 genomes]
rs2544019	0.85[ASN][1000 genomes]
rs319931	0.85[ASN][1000 genomes]
rs319936	0.85[ASN][1000 genomes]
rs319939	0.85[ASN][1000 genomes]
rs829017	0.85[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3414501	chr12:51174503-51534707	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51317600-51322800	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr12:51317600-51323200	Active TSS	Brain Substantia Nigra	brain
3	chr12:51317800-51322800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr12:51317800-51323000	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr12:51318600-51322800	Active TSS	Gastric	stomach
6	chr12:51319000-51322800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr12:51319200-51322800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
8	chr12:51319200-51326400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:51319400-51322800	Enhancers	NHEK	skin
10	chr12:51319400-51323400	Active TSS	Fetal Muscle Trunk	muscle
11	chr12:51319400-51323600	Enhancers	Dnd41	blood
12	chr12:51319400-51346200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr12:51319800-51323200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr12:51319800-51326200	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr12:51320200-51322800	Flanking Active TSS	Primary B cells from cord blood	blood
16	chr12:51320200-51330600	Weak transcription	Primary T cells from cord blood	blood
17	chr12:51320400-51323400	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr12:51320400-51328600	Weak transcription	HSMM	muscle
19	chr12:51320600-51324000	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
20	chr12:51320600-51327400	Weak transcription	Placenta	Placenta
21	chr12:51320600-51328200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr12:51320800-51323000	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr12:51321000-51322800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr12:51321000-51323000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr12:51321000-51323400	Flanking Active TSS	Adipose Nuclei	Adipose
26	chr12:51321000-51325600	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr12:51321200-51322800	Flanking Active TSS	HepG2	liver
28	chr12:51321200-51323200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr12:51321200-51323200	Active TSS	Fetal Muscle Leg	muscle
30	chr12:51321200-51323400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr12:51321400-51322800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr12:51321400-51323000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr12:51321400-51323400	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr12:51321600-51322800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr12:51321600-51322800	Flanking Active TSS	Psoas Muscle	Psoas
36	chr12:51321600-51323000	Flanking Active TSS	Duodenum Mucosa	Duodenum
37	chr12:51321600-51323400	Flanking Active TSS	Liver	Liver
38	chr12:51321600-51323400	Flanking Active TSS	Thymus	Thymus
39	chr12:51321600-51325000	Weak transcription	Fetal Intestine Large	intestine
40	chr12:51321800-51322800	Genic enhancers	Fetal Intestine Small	intestine
41	chr12:51321800-51322800	Flanking Active TSS	Pancreas	Pancrea
42	chr12:51321800-51322800	Enhancers	Spleen	Spleen
43	chr12:51321800-51323200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr12:51322000-51322800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr12:51322000-51322800	Transcr. at gene 5' and 3'	Left Ventricle	heart
46	chr12:51322000-51322800	Active TSS	Rectal Mucosa Donor 29	rectum
47	chr12:51322000-51323000	Flanking Active TSS	Brain Germinal Matrix	brain
48	chr12:51322000-51324800	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr12:51322200-51322800	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr12:51322200-51323400	Enhancers	HUES48 Cell Line	embryonic stem cell

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