Variant report

Variant	rs12994926
Chromosome Location	chr2:36622220-36622221
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:36621514..36623196-chr2:36625888..36628234,2	K562	blood:
2	chr2:36595497..36597494-chr2:36620242..36622925,2	MCF-7	breast:
3	chr2:36613783..36616310-chr2:36620739..36623500,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000150938	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10186135	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10203010	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11124514	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11124515	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11124516	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1159133	0.81[AMR][1000 genomes]
rs12465282	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12465297	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12477836	0.93[AMR][1000 genomes]
rs13394052	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13407488	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3755214	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3770913	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3770924	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3770932	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3770936	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4233914	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4670554	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6711707	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6755048	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7589917	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs888075	0.95[AMR][1000 genomes];0.86[EUR][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	nsv833803	chr2:36589065-36745779	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36586200-36626600	Weak transcription	Primary B cells from cord blood	blood
2	chr2:36604400-36640400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr2:36604400-36640600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr2:36611600-36632400	Weak transcription	Esophagus	oesophagus
5	chr2:36611600-36635400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:36613000-36624000	Weak transcription	Small Intestine	intestine
7	chr2:36616800-36624200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr2:36616800-36631200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr2:36616800-36635000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:36617000-36633400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr2:36617200-36623800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:36617200-36624000	Weak transcription	Fetal Intestine Large	intestine
13	chr2:36617200-36624000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr2:36617200-36625000	Weak transcription	Fetal Intestine Small	intestine
15	chr2:36617200-36630800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr2:36617200-36631200	Weak transcription	Fetal Kidney	kidney
17	chr2:36617200-36633800	Weak transcription	Fetal Lung	lung
18	chr2:36617600-36624000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:36617800-36630600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr2:36617800-36630600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr2:36618200-36624000	Weak transcription	Primary hematopoietic stem cells	blood
22	chr2:36618600-36643000	Genic enhancers	Osteobl	bone
23	chr2:36619600-36622600	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr2:36619600-36622800	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr2:36619800-36625400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr2:36620000-36623000	Enhancers	Hela-S3	cervix
27	chr2:36620200-36626400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr2:36620200-36635000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:36620400-36622800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr2:36620400-36623400	Weak transcription	Brain Germinal Matrix	brain
31	chr2:36620400-36624000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr2:36620800-36622400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr2:36620800-36624000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr2:36620800-36629200	Genic enhancers	Muscle Satellite Cultured Cells	--
35	chr2:36621000-36622800	Enhancers	Colon Smooth Muscle	Colon
36	chr2:36621000-36623000	Enhancers	NHLF	lung
37	chr2:36621000-36624000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr2:36621000-36624000	Weak transcription	Left Ventricle	heart
39	chr2:36621000-36630600	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr2:36621000-36631400	Weak transcription	Fetal Brain Female	brain
41	chr2:36621000-36635000	Weak transcription	Stomach Smooth Muscle	stomach
42	chr2:36621000-36635200	Weak transcription	Lung	lung
43	chr2:36621200-36622600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr2:36621200-36622600	Enhancers	HUVEC	blood vessel
45	chr2:36621200-36622800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr2:36621200-36622800	Weak transcription	NH-A	brain
47	chr2:36621200-36623200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr2:36621200-36623200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr2:36621200-36623400	Weak transcription	Placenta	Placenta
50	chr2:36621200-36623600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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