Variant report

Variant	rs73698788
Chromosome Location	chr8:103396852-103396853
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:27433961..27434732-chr8:103396320..103397047,2	MCF-7	breast:
2	chr8:103396157..103398817-chr8:103419395..103421018,2	MCF-7	breast:
3	chr8:103396006..103397979-chr8:103422778..103424559,3	MCF-7	breast:
4	chr8:103395050..103397210-chr8:103817732..103820356,2	MCF-7	breast:
5	chr8:103394320..103397702-chr8:103611755..103614575,3	MCF-7	breast:
6	chr8:103395695..103397500-chr8:103414019..103415876,3	MCF-7	breast:
7	chr8:103396572..103398863-chr8:103422256..103424667,2	K562	blood:
8	chr8:103393395..103395739-chr8:103396622..103399567,3	K562	blood:
9	chr8:103393946..103397618-chr8:103423200..103426543,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000253669	Chromatin interaction
ENSG00000138074	Chromatin interaction
ENSG00000104517	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs34270914	0.85[AFR][1000 genomes]
rs34278087	0.85[AFR][1000 genomes]
rs59729747	0.87[AFR][1000 genomes]
rs60265889	0.87[AFR][1000 genomes]
rs60276445	0.87[AFR][1000 genomes]
rs60794914	0.87[AFR][1000 genomes]
rs61424257	0.87[AFR][1000 genomes]
rs71518861	0.85[AFR][1000 genomes]
rs73698724	0.87[AFR][1000 genomes]
rs73698727	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033829	chr8:103110057-103525696	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1021459	chr8:103163436-103401754	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv539701	chr8:103163436-103401754	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv1025935	chr8:103199207-103468322	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv1028890	chr8:103207922-103401754	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv891244	chr8:103309862-103483466	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv831412	chr8:103337196-103536397	Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
9	nsv1023938	chr8:103369215-103538708	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
10	esv2761454	chr8:103394602-103414235	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103369800-103421000	Weak transcription	Colonic Mucosa	Colon
2	chr8:103372400-103412600	Weak transcription	Fetal Intestine Large	intestine
3	chr8:103372800-103403800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr8:103372800-103410200	Weak transcription	Fetal Kidney	kidney
5	chr8:103373000-103402400	Weak transcription	Fetal Muscle Trunk	muscle
6	chr8:103373200-103401400	Weak transcription	Hela-S3	cervix
7	chr8:103380200-103397800	Weak transcription	Duodenum Mucosa	Duodenum
8	chr8:103381000-103398400	Weak transcription	Fetal Intestine Small	intestine
9	chr8:103384200-103411600	Weak transcription	Lung	lung
10	chr8:103384200-103416800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr8:103387000-103402800	Weak transcription	Dnd41	blood
12	chr8:103388200-103407200	Weak transcription	Right Ventricle	heart
13	chr8:103388400-103398400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr8:103388400-103406400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr8:103388400-103416600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr8:103388800-103400000	Weak transcription	HUVEC	blood vessel
17	chr8:103390000-103397800	Weak transcription	Esophagus	oesophagus
18	chr8:103392000-103397800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr8:103393000-103397600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr8:103393200-103397400	Enhancers	H1 Cell Line	embryonic stem cell
21	chr8:103393400-103397400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr8:103393600-103397400	Enhancers	Brain Anterior Caudate	brain
23	chr8:103393600-103397800	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr8:103393600-103398200	Enhancers	Colon Smooth Muscle	Colon
25	chr8:103393600-103400800	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr8:103393800-103400600	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr8:103394000-103397200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr8:103394200-103397000	Enhancers	Primary T cells from cord blood	blood
29	chr8:103394400-103397400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr8:103394400-103397800	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr8:103394400-103398000	Enhancers	A549	lung
32	chr8:103394600-103407200	Weak transcription	Pancreas	Pancrea
33	chr8:103394800-103397200	Enhancers	Brain Cingulate Gyrus	brain
34	chr8:103394800-103403800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr8:103395000-103397200	Enhancers	Brain Hippocampus Middle	brain
36	chr8:103395000-103397400	Enhancers	Primary B cells from cord blood	blood
37	chr8:103395000-103398000	Enhancers	Small Intestine	intestine
38	chr8:103395000-103406800	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr8:103395200-103397800	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr8:103395200-103398400	Enhancers	Liver	Liver
41	chr8:103395200-103406800	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr8:103395200-103406800	Weak transcription	Brain Substantia Nigra	brain
43	chr8:103395400-103402800	Weak transcription	Thymus	Thymus
44	chr8:103395600-103397000	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr8:103395600-103397200	Enhancers	HMEC	breast
46	chr8:103395600-103397400	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr8:103395600-103397400	Enhancers	Stomach Smooth Muscle	stomach
48	chr8:103395600-103397600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr8:103395600-103406800	Weak transcription	Brain Angular Gyrus	brain
50	chr8:103395600-103407200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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