Variant report

Variant	rs13261684
Chromosome Location	chr8:119025602-119025603
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:119022743..119025680-chr8:119028143..119030470,3	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1037693	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10955845	0.83[ASN][1000 genomes]
rs10955849	0.80[EUR][1000 genomes]
rs11562667	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12543161	0.83[ASN][1000 genomes]
rs17453854	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2169604	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2279121	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4876398	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030459	chr8:118840179-119155835	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv831440	chr8:118871930-119052269	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv612047	chr8:118939094-119468609	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1015380	chr8:118948652-119418389	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv539736	chr8:118948652-119418389	Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv1025002	chr8:118970940-119069418	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118994000-119031000	Weak transcription	Primary T cells from cord blood	blood
2	chr8:119013200-119030000	Weak transcription	Colonic Mucosa	Colon
3	chr8:119016200-119026000	Enhancers	Liver	Liver
4	chr8:119018000-119033200	Weak transcription	Spleen	Spleen
5	chr8:119020200-119026000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:119021000-119026000	Enhancers	Hela-S3	cervix
7	chr8:119021200-119028000	Enhancers	HMEC	breast
8	chr8:119021600-119028600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr8:119021600-119030200	Weak transcription	Brain Germinal Matrix	brain
10	chr8:119021800-119027800	Weak transcription	Brain Anterior Caudate	brain
11	chr8:119021800-119029600	Weak transcription	Fetal Intestine Large	intestine
12	chr8:119021800-119036000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr8:119022000-119030000	Weak transcription	Fetal Intestine Small	intestine
14	chr8:119022000-119030400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr8:119022200-119028000	Weak transcription	Esophagus	oesophagus
16	chr8:119022600-119026000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr8:119022800-119025800	Enhancers	Placenta	Placenta
18	chr8:119023600-119030000	Weak transcription	Gastric	stomach
19	chr8:119024000-119030600	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr8:119024200-119038000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr8:119024400-119028000	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr8:119024400-119029600	Weak transcription	Fetal Kidney	kidney
23	chr8:119024600-119026000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr8:119024600-119026000	Enhancers	HUVEC	blood vessel
25	chr8:119024600-119026600	Enhancers	A549	lung
26	chr8:119024600-119028200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr8:119024600-119028200	Weak transcription	Right Ventricle	heart
28	chr8:119024600-119028600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr8:119024600-119029000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr8:119024600-119029200	Weak transcription	Rectal Smooth Muscle	rectum
31	chr8:119024600-119029400	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr8:119024600-119031600	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr8:119024600-119033800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr8:119024800-119026000	Enhancers	NHEK	skin
35	chr8:119024800-119026200	Weak transcription	Stomach Mucosa	stomach
36	chr8:119024800-119026600	Weak transcription	Aorta	Aorta
37	chr8:119024800-119027000	Weak transcription	Fetal Lung	lung
38	chr8:119024800-119028600	Weak transcription	Lung	lung
39	chr8:119024800-119029000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr8:119024800-119029200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr8:119024800-119029600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr8:119024800-119029600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr8:119024800-119029600	Weak transcription	HSMMtube	muscle
44	chr8:119024800-119029800	Enhancers	NHDF-Ad	bronchial
45	chr8:119024800-119030000	Weak transcription	Adipose Nuclei	Adipose
46	chr8:119024800-119030200	Weak transcription	Fetal Stomach	stomach
47	chr8:119024800-119031600	Weak transcription	Psoas Muscle	Psoas
48	chr8:119024800-119036000	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr8:119024800-119036600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr8:119024800-119037000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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