Variant report

Variant	rs13364791
Chromosome Location	chr8:126617919-126617920
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126612687..126615177-chr8:126616929..126619166,2	MCF-7	breast:
2	chr8:126441405..126444224-chr8:126614301..126619460,8	MCF-7	breast:
3	chr8:126602321..126604094-chr8:126616027..126618273,2	MCF-7	breast:
4	chr8:126615487..126618123-chr8:126620210..126621932,2	K562	blood:
5	chr8:126610735..126612592-chr8:126617138..126620158,3	MCF-7	breast:
6	chr8:126608438..126611381-chr8:126617335..126619462,2	K562	blood:
7	chr8:126616447..126617973-chr8:126621582..126623418,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173334	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10095973	1.00[EUR][1000 genomes]
rs12548259	1.00[EUR][1000 genomes]
rs13364666	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13364676	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13364688	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16900750	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1979224	1.00[EUR][1000 genomes]
rs28589371	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4372019	1.00[EUR][1000 genomes]
rs55734315	1.00[EUR][1000 genomes]
rs56699992	1.00[EUR][1000 genomes]
rs58950777	1.00[EUR][1000 genomes]
rs59505399	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60394496	1.00[EUR][1000 genomes]
rs61501580	1.00[EUR][1000 genomes]
rs61571801	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61589624	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6990459	1.00[EUR][1000 genomes]
rs7010651	1.00[EUR][1000 genomes]
rs73336675	1.00[EUR][1000 genomes]
rs73338611	1.00[EUR][1000 genomes]
rs73338686	1.00[EUR][1000 genomes]
rs73338687	1.00[EUR][1000 genomes]
rs73346808	1.00[EUR][1000 genomes]
rs73346811	1.00[EUR][1000 genomes]
rs73346821	1.00[EUR][1000 genomes]
rs73346881	1.00[EUR][1000 genomes]
rs73346898	1.00[EUR][1000 genomes]
rs73349008	1.00[EUR][1000 genomes]
rs73349041	1.00[EUR][1000 genomes]
rs73349074	1.00[EUR][1000 genomes]
rs73706850	1.00[EUR][1000 genomes]
rs73706855	1.00[EUR][1000 genomes]
rs7834570	1.00[EUR][1000 genomes]
rs7835068	1.00[EUR][1000 genomes]
rs7835809	1.00[EUR][1000 genomes]
rs7845655	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7845670	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	nsv891437	chr8:126470817-126629328	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv6377	chr8:126579620-126639253	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv38	chr8:126593465-126639253	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1015513	chr8:126602536-126618074	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126608400-126618400	Weak transcription	Colonic Mucosa	Colon
2	chr8:126608600-126619800	Weak transcription	Small Intestine	intestine
3	chr8:126609600-126619800	Weak transcription	Esophagus	oesophagus
4	chr8:126611800-126622600	Enhancers	Primary B cells from peripheral blood	blood
5	chr8:126612200-126625400	Enhancers	Primary B cells from cord blood	blood
6	chr8:126613200-126621800	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr8:126613400-126619000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr8:126613600-126620600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr8:126613600-126620800	Enhancers	HMEC	breast
10	chr8:126613600-126621000	Enhancers	NHEK	skin
11	chr8:126613800-126618600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr8:126613800-126621000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr8:126614200-126620000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr8:126615000-126618400	Weak transcription	Spleen	Spleen
15	chr8:126615000-126618600	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr8:126615200-126618400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr8:126615400-126618400	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr8:126615400-126618600	Weak transcription	NH-A	brain
19	chr8:126615600-126618600	Weak transcription	A549	lung
20	chr8:126615600-126620400	Weak transcription	HUVEC	blood vessel
21	chr8:126616400-126618200	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr8:126616400-126621600	Enhancers	Placenta	Placenta
23	chr8:126616400-126622800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr8:126616600-126618000	Enhancers	Fetal Thymus	thymus
25	chr8:126616600-126618800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr8:126616600-126619000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr8:126616600-126619000	Enhancers	Duodenum Mucosa	Duodenum
28	chr8:126616600-126619400	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr8:126616600-126619400	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr8:126616800-126618000	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr8:126616800-126619600	Weak transcription	Brain Cingulate Gyrus	brain
32	chr8:126616800-126619600	Weak transcription	Brain Substantia Nigra	brain
33	chr8:126616800-126620400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr8:126616800-126621600	Enhancers	Primary T cells fromperipheralblood	blood
35	chr8:126616800-126621600	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr8:126617000-126618000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr8:126617000-126618600	Weak transcription	Right Atrium	heart
38	chr8:126617000-126618800	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr8:126617000-126619400	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr8:126617000-126619600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr8:126617000-126619600	Weak transcription	Brain Anterior Caudate	brain
42	chr8:126617200-126618200	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr8:126617200-126619000	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr8:126617200-126619000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr8:126617200-126619600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr8:126617200-126619800	Weak transcription	Adipose Nuclei	Adipose
47	chr8:126617200-126619800	Weak transcription	Osteobl	bone
48	chr8:126617400-126618600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr8:126617400-126619800	Weak transcription	Stomach Mucosa	stomach
50	chr8:126617400-126621600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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