Variant report

Variant	rs980112
Chromosome Location	chr8:103665513-103665514
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:103594676..103598012-chr8:103663554..103666126,3	K562	blood:
2	chr8:103421691..103424111-chr8:103663160..103665928,2	K562	blood:
3	chr8:103653489..103674518-chr8:103809987..103832119,275	MCF-7	breast:
4	chr8:103665043..103667902-chr8:104032502..104034925,2	K562	blood:
5	chr8:103647192..103649158-chr8:103663461..103665768,2	K562	blood:
6	chr8:103665446..103666548-chr8:103822796..103823768,4	MCF-7	breast:
7	chr8:103420666..103426323-chr8:103664417..103668286,11	K562	blood:
8	chr8:103644446..103678119-chr8:103815618..103829807,419	MCF-7	breast:
9	chr8:103251457..103253123-chr8:103664713..103667608,2	K562	blood:
10	chr8:103665305..103666010-chr8:103818640..103819590,2	MCF-7	breast:
11	chr8:103664543..103668719-chr8:103874742..103878936,8	MCF-7	breast:
12	chr8:103251275..103253446-chr8:103664809..103667608,3	K562	blood:
13	chr8:103657627..103672045-chr8:103815832..103826635,94	K562	blood:
14	chr8:103664643..103666146-chr8:103754646..103756274,2	K562	blood:
15	chr8:103423355..103425914-chr8:103664541..103666736,4	MCF-7	breast:
16	chr8:103664622..103666232-chr8:103692078..103693686,2	K562	blood:
17	chr8:103422740..103426162-chr8:103661845..103666384,4	MCF-7	breast:
18	chr8:103663808..103666386-chr8:103714227..103715917,2	K562	blood:
19	chr8:103659827..103671648-chr8:103816894..103829599,93	K562	blood:

No data

Variant related genes	Relation type
ENSG00000253320	Chromatin interaction
ENSG00000253669	Chromatin interaction
ENSG00000048392	Chromatin interaction
ENSG00000104517	Chromatin interaction
ENSG00000155097	Chromatin interaction
ENSG00000254236	Chromatin interaction
ENSG00000155096	Chromatin interaction
ENSG00000246263	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10955288	0.88[CEU][hapmap];0.83[AFR][1000 genomes]
rs12546601	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12547574	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12547834	0.88[CEU][hapmap]
rs12548858	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12549399	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12674646	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12674767	0.83[AFR][1000 genomes]
rs12675196	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12675239	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12680362	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12680598	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12680908	1.00[CEU][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12682093	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16869664	0.89[CEU][hapmap]
rs16869676	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16869695	0.96[ASN][1000 genomes]
rs16869724	1.00[CEU][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2436946	0.93[ASN][1000 genomes]
rs2471847	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2511701	1.00[CEU][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2511718	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2511719	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2511730	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2734824	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2916570	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs3018443	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35509459	0.83[AFR][1000 genomes]
rs55750587	0.83[AFR][1000 genomes]
rs55814340	0.83[AFR][1000 genomes]
rs56929055	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72683098	0.83[AFR][1000 genomes]
rs72683100	0.83[AFR][1000 genomes]
rs72683101	0.83[AFR][1000 genomes]
rs72683102	0.83[AFR][1000 genomes]
rs72685109	0.81[ASN][1000 genomes]
rs72685110	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72685117	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72685118	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72685123	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72685128	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73276720	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9642792	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv1028329	chr8:103574775-103684362	Strong transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	esv3409107	chr8:103665226-103668974	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103662800-103665800	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
2	chr8:103663400-103665800	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr8:103663400-103666000	Transcr. at gene 5' and 3'	A549	lung
4	chr8:103663400-103666000	Transcr. at gene 5' and 3'	HSMM	muscle
5	chr8:103663800-103665600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr8:103663800-103665600	Weak transcription	Brain Hippocampus Middle	brain
7	chr8:103664000-103665600	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr8:103664000-103665600	Enhancers	Primary T cells from cord blood	blood
9	chr8:103664000-103665600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr8:103664000-103665600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr8:103664000-103665800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr8:103664000-103665800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr8:103664000-103667200	Active TSS	Fetal Brain Female	brain
14	chr8:103664000-103669600	Active TSS	Psoas Muscle	Psoas
15	chr8:103664200-103665600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr8:103664200-103665600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr8:103664200-103665600	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr8:103664200-103665600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr8:103664200-103665600	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr8:103664200-103665600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr8:103664200-103665600	Weak transcription	Aorta	Aorta
22	chr8:103664200-103665600	Enhancers	Brain Anterior Caudate	brain
23	chr8:103664200-103665600	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr8:103664200-103665600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr8:103664200-103665600	Weak transcription	Thymus	Thymus
26	chr8:103664200-103665800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr8:103664200-103665800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr8:103664200-103665800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:103664200-103665800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr8:103664200-103665800	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr8:103664200-103665800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr8:103664200-103665800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr8:103664200-103665800	Weak transcription	Brain Substantia Nigra	brain
34	chr8:103664200-103665800	Weak transcription	Esophagus	oesophagus
35	chr8:103664200-103665800	Weak transcription	Gastric	stomach
36	chr8:103664200-103665800	Weak transcription	Left Ventricle	heart
37	chr8:103664200-103665800	Weak transcription	Ovary	ovary
38	chr8:103664200-103665800	Weak transcription	Pancreas	Pancrea
39	chr8:103664200-103665800	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr8:103664200-103665800	Weak transcription	Small Intestine	intestine
41	chr8:103664200-103666000	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr8:103664200-103666600	Weak transcription	Lung	lung
43	chr8:103664200-103666600	Weak transcription	Spleen	Spleen
44	chr8:103664200-103669200	Active TSS	HSMMtube	muscle
45	chr8:103664200-103670000	Active TSS	Right Atrium	heart
46	chr8:103664400-103665600	Flanking Active TSS	Duodenum Mucosa	Duodenum
47	chr8:103664400-103665600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
48	chr8:103664400-103665800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr8:103664400-103665800	Transcr. at gene 5' and 3'	NH-A	brain
50	chr8:103664400-103666000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--

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