Variant report

Variant	rs7307435
Chromosome Location	chr12:49648666-49648667
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:49644570..49652021-chr12:49657020..49661422,19	MCF-7	breast:
2	chr12:49637570..49639099-chr12:49647103..49649112,2	K562	blood:
3	chr12:49627091..49630045-chr12:49647467..49650114,2	MCF-7	breast:
4	chr12:49648358..49649944-chr12:49651949..49653458,2	MCF-7	breast:
5	chr12:49523560..49526528-chr12:49647133..49650101,2	MCF-7	breast:
6	chr12:49523243..49526269-chr12:49642508..49650672,7	K562	blood:

Variant related genes	Relation type
ENSG00000258017	Chromatin interaction
ENSG00000123416	Chromatin interaction
ENSG00000167553	Chromatin interaction
ENSG00000258101	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10875938	0.85[ASN][1000 genomes]
rs10875939	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10875941	0.95[CEU][hapmap];0.83[YRI][hapmap]
rs10875942	1.00[CEU][hapmap];0.84[YRI][hapmap];0.87[EUR][1000 genomes]
rs11168936	0.97[ASN][1000 genomes]
rs2335232	0.95[CEU][hapmap];0.80[YRI][hapmap]
rs2335451	0.95[CEU][hapmap];0.84[YRI][hapmap]
rs3847766	0.95[CEU][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3858587	0.88[EUR][1000 genomes]
rs73306251	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051161	chr12:49314550-49828473	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
2	nsv541489	chr12:49314550-49828473	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
3	nsv1036452	chr12:49376285-49867760	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	315 gene(s)	inside rSNPs	diseases
4	nsv428801	chr12:49536659-49744884	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49629200-49653400	Weak transcription	Fetal Kidney	kidney
2	chr12:49629400-49651000	Weak transcription	Fetal Brain Female	brain
3	chr12:49629400-49657800	Weak transcription	Fetal Stomach	stomach
4	chr12:49639600-49654000	Weak transcription	NHLF	lung
5	chr12:49639800-49653200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr12:49639800-49653200	Weak transcription	NHDF-Ad	bronchial
7	chr12:49639800-49653200	Weak transcription	Osteobl	bone
8	chr12:49639800-49653400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr12:49640200-49649000	Weak transcription	Hela-S3	cervix
10	chr12:49640200-49651000	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr12:49640200-49653000	Weak transcription	Fetal Muscle Leg	muscle
12	chr12:49641400-49649200	Weak transcription	HepG2	liver
13	chr12:49645600-49649600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr12:49645600-49654600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr12:49646000-49649400	Weak transcription	K562	blood
16	chr12:49647200-49649200	Weak transcription	Placenta	Placenta
17	chr12:49647200-49653200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr12:49647200-49653200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr12:49647200-49653200	Weak transcription	NHEK	skin
20	chr12:49647400-49653400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr12:49647400-49654600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr12:49647600-49648800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr12:49648200-49649800	Enhancers	Ovary	ovary
24	chr12:49648400-49649000	Enhancers	A549	lung
25	chr12:49648400-49650000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr12:49648600-49651000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr12:49648600-49651400	Weak transcription	Monocytes-CD14+_RO01746	blood

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