Variant report

Variant	rs3134646
Chromosome Location	chr2:189879843-189879844
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:189872860..189874493-chr2:189877699..189880375,2	K562	blood:

Variant related genes	Relation type
ENSG00000168542	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2056156	0.86[ASW][hapmap]
rs2203601	0.86[ASW][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[YRI][hapmap]
rs3106796	0.86[ASW][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[YRI][hapmap]
rs3106798	1.00[CHB][hapmap];1.00[YRI][hapmap]
rs3106801	0.82[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs3134656	1.00[CHB][hapmap];1.00[YRI][hapmap]
rs4666769	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875610	chr2:189796272-189904674	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189871600-189884600	Weak transcription	Fetal Kidney	kidney
2	chr2:189873200-189885000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:189874000-189880800	Weak transcription	Left Ventricle	heart
4	chr2:189876000-189884400	Weak transcription	HSMMtube	muscle
5	chr2:189876200-189898600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:189876400-189883400	Weak transcription	NH-A	brain
7	chr2:189877400-189886200	Weak transcription	Adipose Nuclei	Adipose
8	chr2:189877400-189897400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr2:189877600-189880200	Weak transcription	Placenta	Placenta
10	chr2:189877800-189885200	Weak transcription	Fetal Muscle Trunk	muscle
11	chr2:189878000-189882600	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr2:189878000-189883600	Weak transcription	HSMM	muscle
13	chr2:189878000-189886400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:189878200-189882400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:189878600-189880000	Enhancers	Stomach Smooth Muscle	stomach
16	chr2:189878600-189880800	Enhancers	Fetal Stomach	stomach
17	chr2:189878800-189880000	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr2:189878800-189880400	Enhancers	Ovary	ovary
19	chr2:189879000-189880000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:189879000-189880400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:189879000-189880400	Enhancers	Fetal Lung	lung
22	chr2:189879000-189881000	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr2:189879200-189880400	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr2:189879200-189880400	Enhancers	NHDF-Ad	bronchial
25	chr2:189879200-189880800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr2:189879400-189880000	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr2:189879400-189880200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr2:189879400-189880200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:189879400-189881000	Weak transcription	Osteobl	bone
30	chr2:189879400-189881200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr2:189879400-189883800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr2:189879400-189884000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr2:189879400-189885200	Weak transcription	Pancreas	Pancrea
34	chr2:189879400-189886200	Weak transcription	Aorta	Aorta
35	chr2:189879600-189880200	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr2:189879600-189880400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr2:189879600-189880400	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr2:189879600-189880400	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr2:189879600-189880600	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr2:189879600-189881000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:189879600-189881200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr2:189879800-189880400	Weak transcription	Colon Smooth Muscle	Colon
43	chr2:189879800-189883600	Weak transcription	NHLF	lung

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