Variant report

Variant	rs9471486
Chromosome Location	chr6:12334935-12334936
allele	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	chr6:12334406..12337144-chr6:12347529..12350449,2	MCF-7	breast:
5	chr6:12286691..12293887-chr6:12327157..12336724,21	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EDN1-1	chr6:12334765-12335036	XLOC_005175

Variant related genes	Relation type
ENSG00000078401	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12110345	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16872628	0.83[AMR][1000 genomes]
rs16872650	0.90[AMR][1000 genomes]
rs16872653	0.83[AMR][1000 genomes]
rs16872679	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16872704	0.82[EUR][1000 genomes]
rs6903351	0.81[EUR][1000 genomes]
rs6927883	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73367561	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7760229	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9471496	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9471517	0.89[EUR][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

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:12327800-12337000	Enhancers	HepG2	liver
2	chr6:12328000-12335200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr6:12329400-12335400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr6:12329400-12336000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:12329400-12336000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr6:12331000-12337200	Enhancers	Fetal Intestine Large	intestine
7	chr6:12331000-12337200	Enhancers	Fetal Intestine Small	intestine
8	chr6:12332000-12340200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr6:12332200-12335000	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr6:12332200-12344000	Weak transcription	Aorta	Aorta
11	chr6:12332400-12335000	Weak transcription	NHEK	skin
12	chr6:12332400-12336000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr6:12332600-12336400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr6:12332600-12340400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr6:12332800-12335000	Weak transcription	Liver	Liver
16	chr6:12332800-12335400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr6:12332800-12335400	Weak transcription	Left Ventricle	heart
18	chr6:12332800-12335800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr6:12332800-12336400	Weak transcription	Right Atrium	heart
20	chr6:12332800-12336600	Weak transcription	Lung	lung
21	chr6:12332800-12336600	Weak transcription	Stomach Smooth Muscle	stomach
22	chr6:12333000-12335800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr6:12333000-12336200	Weak transcription	Placenta	Placenta
24	chr6:12333200-12335400	Enhancers	GM12878-XiMat	blood
25	chr6:12333200-12336000	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr6:12333400-12336600	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr6:12333600-12335000	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr6:12333600-12336400	Weak transcription	Duodenum Mucosa	Duodenum
29	chr6:12334200-12335000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr6:12334400-12337000	Enhancers	Stomach Mucosa	stomach
31	chr6:12334600-12337200	Enhancers	Hela-S3	cervix
32	chr6:12334800-12335000	Enhancers	Pancreas	Pancrea
33	chr6:12334800-12335000	Enhancers	Sigmoid Colon	Sigmoid Colon
34	chr6:12334800-12335200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr6:12334800-12335200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr6:12334800-12335200	Flanking Active TSS	A549	lung
37	chr6:12334800-12337000	Enhancers	HUES6 Cell Line	embryonic stem cell

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