Variant report

Variant	rs1191812
Chromosome Location	chr2:20224999-20225000
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:20218756..20221372-chr2:20222050..20225276,4	MCF-7	breast:
2	chr2:20208645..20229804-chr2:20247969..20254330,37	MCF-7	breast:
3	chr2:20223805..20226638-chr2:20247959..20250550,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000223734	Chromatin interaction
ENSG00000068697	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1016316	0.86[CHB][hapmap];0.92[CHD][hapmap];0.83[AMR][1000 genomes]
rs11674251	0.80[CHD][hapmap]
rs1191805	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1191809	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1191810	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1191811	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1191817	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1473890	0.83[AMR][1000 genomes]
rs2244939	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36071721	0.81[AMR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1191812	DENND2C	trans	parietal	SCAN

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20213000-20227200	Weak transcription	Ovary	ovary
2	chr2:20213200-20225000	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr2:20213200-20227000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr2:20213200-20227000	Weak transcription	Aorta	Aorta
5	chr2:20213400-20227400	Weak transcription	Fetal Kidney	kidney
6	chr2:20213400-20232200	Weak transcription	Right Ventricle	heart
7	chr2:20213600-20227000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr2:20216400-20227800	Weak transcription	Fetal Intestine Large	intestine
9	chr2:20216400-20228800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr2:20219400-20227000	Weak transcription	Left Ventricle	heart
11	chr2:20221200-20227000	Weak transcription	Liver	Liver
12	chr2:20221400-20227000	Weak transcription	A549	lung
13	chr2:20221400-20227200	Weak transcription	Fetal Lung	lung
14	chr2:20221400-20228200	Weak transcription	Fetal Stomach	stomach
15	chr2:20221400-20230000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:20221400-20230000	Weak transcription	Colonic Mucosa	Colon
17	chr2:20221400-20233200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr2:20221400-20249800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr2:20221600-20227000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr2:20221600-20227000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr2:20221600-20227000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr2:20221600-20227200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr2:20221600-20228200	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr2:20221800-20227000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr2:20222200-20227800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr2:20222200-20229800	Weak transcription	Brain Angular Gyrus	brain
27	chr2:20222400-20231200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr2:20222600-20227000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:20222600-20227000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:20222600-20230000	Weak transcription	Pancreas	Pancrea
31	chr2:20222800-20225000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr2:20222800-20227000	Weak transcription	Primary T cells from cord blood	blood
33	chr2:20222800-20227000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr2:20222800-20227000	Weak transcription	HSMM	muscle
35	chr2:20222800-20228000	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr2:20222800-20233200	Weak transcription	Right Atrium	heart
37	chr2:20223000-20227000	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr2:20223000-20227000	Weak transcription	Primary hematopoietic stem cells	blood
39	chr2:20223000-20227000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr2:20223000-20227000	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr2:20223000-20229000	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr2:20223000-20230000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr2:20223000-20233000	Weak transcription	NHEK	skin
44	chr2:20223200-20227000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr2:20223200-20227200	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr2:20223400-20225400	Strong transcription	Fetal Muscle Leg	muscle
47	chr2:20223800-20227200	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr2:20223800-20232200	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr2:20224000-20227000	Weak transcription	Fetal Muscle Trunk	muscle
50	chr2:20224000-20227000	Weak transcription	Psoas Muscle	Psoas

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