Variant report

Variant	rs73696853
Chromosome Location	chr8:91015129-91015130
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:91012176..91015175-chr8:91997197..91999133,2	K562	blood:
2	chr8:91011918..91015233-chr8:91657389..91660471,3	K562	blood:
3	chr8:91012457..91016466-chr8:91233540..91237741,4	K562	blood:
4	chr8:90996289..90998136-chr8:91010778..91015164,5	K562	blood:
5	chr8:91012528..91015432-chr8:91026705..91029174,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000180694	Chromatin interaction
ENSG00000104320	Chromatin interaction
ENSG00000104325	Chromatin interaction
ENSG00000246792	Chromatin interaction
ENSG00000253250	Chromatin interaction
ENSG00000253394	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs13312836	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13312854	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13312860	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13312862	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13312863	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13312864	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13312874	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13312891	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13312922	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13312931	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2308961	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55663774	1.00[AMR][1000 genomes]
rs55683922	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55978729	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56190114	1.00[AMR][1000 genomes]
rs58089706	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59899647	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61365155	1.00[AMR][1000 genomes]
rs6987476	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73694306	1.00[AMR][1000 genomes]
rs73694307	1.00[AMR][1000 genomes]
rs73694313	1.00[AMR][1000 genomes]
rs73694316	1.00[AMR][1000 genomes]
rs73696843	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73696845	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73696848	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73696850	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73696851	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73696854	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs769417	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7823648	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7823987	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933502	chr8:90702392-91049100	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
2	nsv891183	chr8:90975550-91111193	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
3	esv2758164	chr8:91000786-91329669	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	esv2759628	chr8:91000786-91329669	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv8365	chr8:91014360-91019600	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91012800-91015200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr8:91012800-91015200	Active TSS	Thymus	Thymus
3	chr8:91013000-91015200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr8:91013000-91015200	Active TSS	Fetal Intestine Small	intestine
5	chr8:91013000-91015200	Active TSS	Stomach Smooth Muscle	stomach
6	chr8:91013200-91015200	Active TSS	Primary T cells fromperipheralblood	blood
7	chr8:91013200-91015200	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr8:91013200-91015200	Active TSS	Duodenum Mucosa	Duodenum
9	chr8:91013200-91015200	Active TSS	K562	blood
10	chr8:91013200-91015600	Active TSS	Right Atrium	heart
11	chr8:91013400-91015200	Active TSS	NHLF	lung
12	chr8:91014200-91015400	Flanking Active TSS	Primary hematopoietic stem cells	blood
13	chr8:91014200-91015400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
14	chr8:91014200-91015400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr8:91014200-91015600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr8:91014400-91015200	Flanking Active TSS	Adipose Nuclei	Adipose
17	chr8:91014400-91015400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
18	chr8:91014400-91015400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
19	chr8:91014400-91015600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr8:91014600-91015200	Flanking Active TSS	Brain Hippocampus Middle	brain
21	chr8:91014600-91015200	Flanking Active TSS	Rectal Smooth Muscle	rectum
22	chr8:91014600-91015600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr8:91014600-91015600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
24	chr8:91014600-91015600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr8:91014600-91015600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr8:91014600-91015600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr8:91014600-91015800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
28	chr8:91014600-91015800	Flanking Active TSS	Dnd41	blood
29	chr8:91014600-91016200	Flanking Active TSS	Primary B cells from cord blood	blood
30	chr8:91014600-91017400	Weak transcription	Spleen	Spleen
31	chr8:91014600-91017800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr8:91014600-91018000	Weak transcription	Aorta	Aorta
33	chr8:91014600-91021200	Weak transcription	Gastric	stomach
34	chr8:91014600-91033600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr8:91014600-91045600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr8:91014800-91015200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr8:91014800-91015200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr8:91014800-91015200	Flanking Active TSS	Fetal Lung	lung
39	chr8:91014800-91015200	Enhancers	HepG2	liver
40	chr8:91014800-91015200	Flanking Active TSS	Osteobl	bone
41	chr8:91014800-91015400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr8:91014800-91015400	Flanking Active TSS	Primary T cells from cord blood	blood
43	chr8:91014800-91015400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
44	chr8:91014800-91015400	Flanking Active TSS	Liver	Liver
45	chr8:91014800-91015400	Enhancers	Brain Substantia Nigra	brain
46	chr8:91014800-91015400	Active TSS	Fetal Kidney	kidney
47	chr8:91014800-91015400	Weak transcription	Small Intestine	intestine
48	chr8:91014800-91015600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
49	chr8:91014800-91015600	Enhancers	Brain Germinal Matrix	brain
50	chr8:91014800-91015600	Weak transcription	Left Ventricle	heart

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