Variant report

Variant	rs7815019
Chromosome Location	chr8:110357885-110357886
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 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	chr8:110357743..110359361-chr8:110551222..110553021,2	MCF-7	breast:
7	chr8:110357510..110359892-chr8:110365729..110367920,2	K562	blood:
8	chr8:110345424..110348480-chr8:110354425..110358647,4	MCF-7	breast:
9	chr8:110353436..110355204-chr8:110357328..110360216,4	K562	blood:
10	chr8:110356416..110359294-chr8:110548274..110550933,2	MCF-7	breast:
11	chr8:110356323..110358473-chr8:110658586..110660962,2	K562	blood:
12	chr8:110357096..110359808-chr8:110548586..110553351,4	K562	blood:

No data

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

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs73305455	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73307517	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73307521	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73307540	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73317499	1.00[AMR][1000 genomes]
rs73319405	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:119 , 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	chr8:110347200-110358200	Weak transcription	Esophagus	oesophagus
5	chr8:110347200-110359800	Weak transcription	Gastric	stomach
6	chr8:110347400-110358000	Weak transcription	Colonic Mucosa	Colon
7	chr8:110347400-110358400	Weak transcription	Fetal Brain Male	brain
8	chr8:110347400-110359400	Weak transcription	Aorta	Aorta
9	chr8:110347400-110359400	Weak transcription	Brain Substantia Nigra	brain
10	chr8:110347400-110360000	Weak transcription	Stomach Mucosa	stomach
11	chr8:110347600-110358200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr8:110347600-110358200	Weak transcription	HSMMtube	muscle
13	chr8:110347600-110358400	Weak transcription	Fetal Stomach	stomach
14	chr8:110348000-110358400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr8:110348400-110360200	Weak transcription	Fetal Intestine Small	intestine
16	chr8:110348600-110358200	Weak transcription	NHEK	skin
17	chr8:110348800-110358600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr8:110348800-110359600	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr8:110348800-110364400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr8:110349600-110359400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr8:110351200-110358400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr8:110351400-110358400	Weak transcription	Psoas Muscle	Psoas
23	chr8:110351600-110358000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr8:110351600-110358200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr8:110351600-110358400	Weak transcription	Small Intestine	intestine
26	chr8:110353000-110361600	Weak transcription	NHDF-Ad	bronchial
27	chr8:110353400-110358600	Weak transcription	NHLF	lung
28	chr8:110353800-110358200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr8:110355000-110358000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:110355000-110358000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr8:110355600-110358600	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr8:110355800-110358400	Weak transcription	Osteobl	bone
33	chr8:110356000-110359400	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr8:110356200-110359400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr8:110356400-110359400	Weak transcription	Brain Cingulate Gyrus	brain
36	chr8:110356600-110358400	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr8:110356600-110358600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr8:110356600-110358600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr8:110356600-110358800	Weak transcription	A549	lung
40	chr8:110356600-110359000	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr8:110356600-110359200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr8:110356600-110359400	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr8:110356600-110359600	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr8:110356800-110358400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr8:110356800-110358400	Weak transcription	NH-A	brain
46	chr8:110356800-110358600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr8:110356800-110358600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr8:110356800-110358600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr8:110356800-110358600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr8:110356800-110358600	Weak transcription	Brain Inferior Temporal Lobe	brain

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