Variant report

Variant	rs12635435
Chromosome Location	chr3:142452593-142452594
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:142440764..142447351-chr3:142447876..142453458,13	K562	blood:
2	chr3:142451473..142453239-chr3:142462365..142465302,2	K562	blood:
3	chr3:142446381..142451042-chr3:142452461..142456745,6	MCF-7	breast:
4	chr3:142450124..142452703-chr3:142455616..142457885,2	K562	blood:

Variant related genes	Relation type
ENSG00000144935	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	0.95[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs12633997	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12636864	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3732744	1.00[ASN][1000 genomes]
rs3773502	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[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:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142444000-142452600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:142444200-142467400	Weak transcription	HSMM	muscle
3	chr3:142444400-142454400	Weak transcription	Ovary	ovary
4	chr3:142444400-142467200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr3:142444400-142469600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr3:142444600-142453800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr3:142444600-142454200	Weak transcription	NHLF	lung
8	chr3:142444600-142467200	Weak transcription	NH-A	brain
9	chr3:142445000-142467400	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr3:142445000-142467800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr3:142445000-142479000	Weak transcription	Fetal Brain Female	brain
12	chr3:142445200-142467000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr3:142445200-142467000	Weak transcription	NHDF-Ad	bronchial
14	chr3:142445200-142467000	Weak transcription	Osteobl	bone
15	chr3:142445200-142467200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr3:142445200-142467400	Weak transcription	HMEC	breast
17	chr3:142445400-142467200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr3:142445800-142467400	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr3:142446000-142467000	Weak transcription	A549	lung
20	chr3:142446400-142467200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr3:142448400-142455200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr3:142449800-142454200	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr3:142450000-142454000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr3:142450200-142467000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr3:142451400-142452600	Weak transcription	Left Ventricle	heart
26	chr3:142451400-142467200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr3:142451600-142452800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr3:142451600-142467000	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr3:142451800-142467600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr3:142452000-142467200	Weak transcription	HUES6 Cell Line	embryonic stem cell

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