Variant report

Variant	rs12636864
Chromosome Location	chr3:142454289-142454290
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:142446381..142451042-chr3:142452461..142456745,6	MCF-7	breast:
2	chr3:142295544..142297726-chr3:142454220..142455765,2	K562	blood:
3	chr3:142449190..142450946-chr3:142453466..142455123,2	K562	blood:

Variant related genes	Relation type
ENSG00000175054	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12630674	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs12633997	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12635435	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3732744	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3773502	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs58391606	1.00[ASN][1000 genomes]
rs60187044	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6806564	1.00[ASN][1000 genomes]
rs7643289	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv591920	chr3:142411200-142496951	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv521098	chr3:142411200-142503605	Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv518623	chr3:142417070-142503605	Weak transcription Active TSS Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142444200-142467400	Weak transcription	HSMM	muscle
2	chr3:142444400-142454400	Weak transcription	Ovary	ovary
3	chr3:142444400-142467200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr3:142444400-142469600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr3:142444600-142467200	Weak transcription	NH-A	brain
6	chr3:142445000-142467400	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr3:142445000-142467800	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr3:142445000-142479000	Weak transcription	Fetal Brain Female	brain
9	chr3:142445200-142467000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:142445200-142467000	Weak transcription	NHDF-Ad	bronchial
11	chr3:142445200-142467000	Weak transcription	Osteobl	bone
12	chr3:142445200-142467200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr3:142445200-142467400	Weak transcription	HMEC	breast
14	chr3:142445400-142467200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr3:142445800-142467400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr3:142446000-142467000	Weak transcription	A549	lung
17	chr3:142446400-142467200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr3:142448400-142455200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr3:142450200-142467000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr3:142451400-142467200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr3:142451600-142467000	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr3:142451800-142467600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr3:142452000-142467200	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr3:142452800-142489000	Weak transcription	Aorta	Aorta
25	chr3:142453600-142454400	Weak transcription	Right Ventricle	heart
26	chr3:142453600-142467200	Weak transcription	Left Ventricle	heart
27	chr3:142453800-142454600	Enhancers	Fetal Heart	heart
28	chr3:142454000-142454600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr3:142454200-142454400	Enhancers	Pancreatic Islets	Pancreatic Islet

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