Variant report

Variant	rs1979300
Chromosome Location	chr8:110357192-110357193
allele	G/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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:110356952..110358938-chr8:110359155..110360701,2	K562	blood:
2	chr8:110356127..110358059-chr8:110558635..110561089,2	MCF-7	breast:
3	chr8:110356353..110358345-chr8:110361451..110363405,2	MCF-7	breast:
4	chr8:110356541..110358567-chr8:110652716..110654323,2	K562	blood:
5	chr8:110355589..110358596-chr8:110550542..110552527,3	K562	blood:
6	chr8:110355140..110357681-chr8:110655259..110657429,3	MCF-7	breast:
7	chr8:110345424..110348480-chr8:110354425..110358647,4	MCF-7	breast:
8	chr8:110356416..110359294-chr8:110548274..110550933,2	MCF-7	breast:
9	chr8:110356323..110358473-chr8:110658586..110660962,2	K562	blood:
10	chr8:110357096..110359808-chr8:110548586..110553351,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000120533	Chromatin interaction
ENSG00000248050	Chromatin interaction
ENSG00000120526	Chromatin interaction
ENSG00000147642	Chromatin interaction
ENSG00000147654	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs16879336	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16879428	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16879553	1.00[AMR][1000 genomes]
rs16879567	1.00[AMR][1000 genomes]
rs16879636	1.00[AMR][1000 genomes]
rs1892762	1.00[AMR][1000 genomes]
rs1979299	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2124980	1.00[AMR][1000 genomes]
rs55752435	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56238419	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56932873	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57170073	1.00[AMR][1000 genomes]
rs57937650	1.00[AMR][1000 genomes]
rs59326650	1.00[AMR][1000 genomes]
rs59982879	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60463599	1.00[AMR][1000 genomes]
rs73700649	1.00[AMR][1000 genomes]
rs73700650	1.00[AMR][1000 genomes]
rs73700652	1.00[AMR][1000 genomes]
rs73700858	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73700860	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73700867	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73700869	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73700876	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73700886	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73704006	1.00[AMR][1000 genomes]
rs73704009	1.00[AMR][1000 genomes]
rs73704016	1.00[AMR][1000 genomes]
rs73704022	1.00[AMR][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	nsv891273	chr8:110219735-110475874	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv891279	chr8:110268104-110450092	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv891280	chr8:110346363-110465481	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110347000-110358200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:110347000-110358400	Weak transcription	Spleen	Spleen
3	chr8:110347000-110358800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:110347200-110357600	Weak transcription	Pancreas	Pancrea
5	chr8:110347200-110358200	Weak transcription	Esophagus	oesophagus
6	chr8:110347200-110359800	Weak transcription	Gastric	stomach
7	chr8:110347400-110358000	Weak transcription	Colonic Mucosa	Colon
8	chr8:110347400-110358400	Weak transcription	Fetal Brain Male	brain
9	chr8:110347400-110359400	Weak transcription	Aorta	Aorta
10	chr8:110347400-110359400	Weak transcription	Brain Substantia Nigra	brain
11	chr8:110347400-110360000	Weak transcription	Stomach Mucosa	stomach
12	chr8:110347600-110357800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr8:110347600-110358200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr8:110347600-110358200	Weak transcription	HSMMtube	muscle
15	chr8:110347600-110358400	Weak transcription	Fetal Stomach	stomach
16	chr8:110348000-110358400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr8:110348200-110357400	Strong transcription	Primary B cells from cord blood	blood
18	chr8:110348200-110357400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr8:110348200-110357400	Strong transcription	Fetal Intestine Large	intestine
20	chr8:110348400-110360200	Weak transcription	Fetal Intestine Small	intestine
21	chr8:110348600-110357400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:110348600-110357400	Strong transcription	Fetal Thymus	thymus
23	chr8:110348600-110358200	Weak transcription	NHEK	skin
24	chr8:110348800-110357200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr8:110348800-110357400	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr8:110348800-110357600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr8:110348800-110358600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr8:110348800-110359600	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr8:110348800-110364400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr8:110349000-110357400	Strong transcription	Skeletal Muscle Female	skeletal muscle
31	chr8:110349200-110357200	Strong transcription	Duodenum Mucosa	Duodenum
32	chr8:110349200-110357400	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr8:110349200-110357600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr8:110349400-110357200	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr8:110349600-110357400	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr8:110349600-110357400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr8:110349600-110359400	Weak transcription	Rectal Smooth Muscle	rectum
38	chr8:110349800-110357200	Strong transcription	Primary hematopoietic stem cells	blood
39	chr8:110350200-110357400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr8:110350600-110357400	Strong transcription	Liver	Liver
41	chr8:110350600-110357800	Weak transcription	Fetal Kidney	kidney
42	chr8:110351000-110357200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr8:110351000-110357600	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr8:110351200-110357200	Strong transcription	HepG2	liver
45	chr8:110351200-110357400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr8:110351200-110358400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr8:110351400-110358400	Weak transcription	Psoas Muscle	Psoas
48	chr8:110351600-110358000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr8:110351600-110358200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr8:110351600-110358400	Weak transcription	Small Intestine	intestine

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