Variant report

Variant	rs73315147
Chromosome Location	chr8:121448951-121448952
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:121445774..121451041-chr8:121455542..121459970,7	MCF-7	breast:
2	chr8:121434068..121435646-chr8:121448649..121451515,2	K562	blood:

Variant related genes	Relation type
ENSG00000172167	Chromatin interaction
ENSG00000172172	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10088602	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10096885	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs10101508	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10105605	0.84[EUR][1000 genomes]
rs12335140	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28569084	0.96[EUR][1000 genomes]
rs4469499	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4538928	0.97[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs57952976	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58477355	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61538039	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61753755	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66653049	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs66711862	0.93[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs72678248	0.84[EUR][1000 genomes]
rs72678254	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72678255	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72678264	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72678268	1.00[EUR][1000 genomes]
rs72680535	0.84[EUR][1000 genomes]
rs9297618	0.81[AFR][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	nsv891420	chr8:121194900-121561369	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv891421	chr8:121292407-121653902	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1033386	chr8:121369943-121501239	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv470235	chr8:121437222-121526747	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121402000-121456400	Weak transcription	Small Intestine	intestine
2	chr8:121404400-121454400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr8:121404600-121456000	Weak transcription	Colonic Mucosa	Colon
4	chr8:121405000-121456000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr8:121405600-121455600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr8:121408200-121450400	Weak transcription	Psoas Muscle	Psoas
7	chr8:121410200-121456400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr8:121410200-121456600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr8:121410600-121456600	Weak transcription	Gastric	stomach
10	chr8:121410600-121456600	Weak transcription	Spleen	Spleen
11	chr8:121411000-121456000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr8:121412600-121450400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr8:121412800-121456000	Weak transcription	Fetal Brain Male	brain
14	chr8:121413600-121454800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr8:121415800-121450200	Weak transcription	Pancreas	Pancrea
16	chr8:121415800-121452200	Weak transcription	Fetal Brain Female	brain
17	chr8:121415800-121456400	Weak transcription	Esophagus	oesophagus
18	chr8:121417000-121455800	Weak transcription	NHLF	lung
19	chr8:121417000-121456000	Weak transcription	Brain Substantia Nigra	brain
20	chr8:121417000-121456400	Weak transcription	Fetal Kidney	kidney
21	chr8:121417200-121450400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr8:121417200-121456000	Weak transcription	Brain Hippocampus Middle	brain
23	chr8:121417200-121456000	Weak transcription	Rectal Smooth Muscle	rectum
24	chr8:121417400-121454200	Weak transcription	HSMMtube	muscle
25	chr8:121417400-121455800	Weak transcription	Aorta	Aorta
26	chr8:121417400-121455800	Weak transcription	Colon Smooth Muscle	Colon
27	chr8:121417800-121450200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr8:121417800-121451000	Weak transcription	Stomach Smooth Muscle	stomach
29	chr8:121417800-121456400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:121418000-121450400	Weak transcription	A549	lung
31	chr8:121423600-121450400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr8:121423600-121455800	Weak transcription	Thymus	Thymus
33	chr8:121423600-121456000	Weak transcription	Fetal Intestine Small	intestine
34	chr8:121423600-121456000	Weak transcription	Ovary	ovary
35	chr8:121423600-121456400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr8:121423600-121456400	Weak transcription	Lung	lung
37	chr8:121423800-121456000	Weak transcription	Fetal Stomach	stomach
38	chr8:121424800-121456000	Weak transcription	Brain Anterior Caudate	brain
39	chr8:121425000-121449000	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr8:121425000-121455200	Weak transcription	Brain Angular Gyrus	brain
41	chr8:121425200-121450400	Weak transcription	Left Ventricle	heart
42	chr8:121425200-121456200	Weak transcription	Brain Cingulate Gyrus	brain
43	chr8:121425400-121450200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr8:121425800-121449000	Weak transcription	HMEC	breast
45	chr8:121426200-121455800	Weak transcription	Fetal Heart	heart
46	chr8:121431400-121452200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr8:121434000-121451400	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr8:121435200-121450400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr8:121436000-121450200	Weak transcription	GM12878-XiMat	blood
50	chr8:121436400-121450600	Weak transcription	Osteobl	bone

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