Variant report

Variant	rs4076735
Chromosome Location	chr6:12335541-12335542
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:12330915..12334155-chr6:12334557..12337652,4	MCF-7	breast:
2	chr6:12334684..12338495-chr6:12601701..12604234,4	MCF-7	breast:
3	chr6:12289574..12292534-chr6:12334688..12336586,2	K562	blood:
4	chr6:12335254..12337743-chr6:12443922..12445535,2	MCF-7	breast:
5	chr6:12334406..12337144-chr6:12347529..12350449,2	MCF-7	breast:
6	chr6:12286691..12293887-chr6:12327157..12336724,21	MCF-7	breast:

Variant related genes	Relation type
ENSG00000078401	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12524919	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12530046	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17765682	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs35198442	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4714429	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57906680	0.87[EUR][1000 genomes];0.80[ASN][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	nsv508394	chr6:12285464-12386745	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4076735	EDN1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:12327800-12337000	Enhancers	HepG2	liver
2	chr6:12329400-12336000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:12329400-12336000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:12331000-12337200	Enhancers	Fetal Intestine Large	intestine
5	chr6:12331000-12337200	Enhancers	Fetal Intestine Small	intestine
6	chr6:12332000-12340200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr6:12332200-12344000	Weak transcription	Aorta	Aorta
8	chr6:12332400-12336000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr6:12332600-12336400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr6:12332600-12340400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr6:12332800-12335800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr6:12332800-12336400	Weak transcription	Right Atrium	heart
13	chr6:12332800-12336600	Weak transcription	Lung	lung
14	chr6:12332800-12336600	Weak transcription	Stomach Smooth Muscle	stomach
15	chr6:12333000-12335800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr6:12333000-12336200	Weak transcription	Placenta	Placenta
17	chr6:12333200-12336000	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr6:12333400-12336600	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr6:12333600-12336400	Weak transcription	Duodenum Mucosa	Duodenum
20	chr6:12334400-12337000	Enhancers	Stomach Mucosa	stomach
21	chr6:12334600-12337200	Enhancers	Hela-S3	cervix
22	chr6:12334800-12337000	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr6:12335000-12336000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr6:12335000-12336000	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr6:12335000-12337000	Enhancers	Liver	Liver
26	chr6:12335000-12342000	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr6:12335000-12342000	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr6:12335200-12335800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr6:12335200-12336000	Enhancers	Fetal Kidney	kidney
30	chr6:12335200-12336400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr6:12335200-12337000	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr6:12335200-12337200	Enhancers	A549	lung
33	chr6:12335400-12335800	Flanking Active TSS	GM12878-XiMat	blood
34	chr6:12335400-12337000	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr6:12335400-12337000	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr6:12335400-12337000	Enhancers	Pancreas	Pancrea

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