Variant report

Variant	rs7827030
Chromosome Location	chr8:52834812-52834813
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:52811802..52816093-chr8:52833537..52836202,3	MCF-7	breast:
2	chr8:52819045..52821559-chr8:52833351..52834979,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228801	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10958306	0.81[AFR][1000 genomes]
rs12164174	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4518654	0.86[YRI][hapmap]
rs4545087	0.86[YRI][hapmap];0.88[AFR][1000 genomes]
rs4565452	0.86[YRI][hapmap]
rs4607598	0.83[AMR][1000 genomes]
rs4873614	0.83[AMR][1000 genomes]
rs4873615	0.83[AMR][1000 genomes]
rs4873620	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6473662	0.83[AMR][1000 genomes]
rs6473664	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7459831	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7459885	0.83[AMR][1000 genomes]
rs7816619	0.83[AMR][1000 genomes]
rs7825492	0.80[YRI][hapmap]
rs9298468	0.82[AFR][1000 genomes];0.83[AMR][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	nsv817615	chr8:52252405-53023384	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1018429	chr8:52411443-52878946	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1034856	chr8:52411443-52886765	Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv831316	chr8:52660353-52842928	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52813400-52837200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr8:52813600-52837400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr8:52813800-52835800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr8:52813800-52837400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr8:52814000-52836200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr8:52814000-52837400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr8:52814000-52839200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:52814200-52842000	Weak transcription	Brain Substantia Nigra	brain
9	chr8:52814200-52850000	Weak transcription	Spleen	Spleen
10	chr8:52814800-52837200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:52815000-52852000	Weak transcription	Colon Smooth Muscle	Colon
12	chr8:52815200-52837400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr8:52822400-52837800	Weak transcription	Esophagus	oesophagus
14	chr8:52822600-52860200	Weak transcription	Fetal Muscle Leg	muscle
15	chr8:52823000-52840200	Weak transcription	Primary B cells from peripheral blood	blood
16	chr8:52823600-52838200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr8:52827600-52836600	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr8:52827800-52835800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr8:52830800-52835800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr8:52831200-52835800	Weak transcription	Ovary	ovary
21	chr8:52831200-52836000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr8:52831200-52838800	Weak transcription	Left Ventricle	heart
23	chr8:52831200-52840800	Weak transcription	Right Ventricle	heart
24	chr8:52831400-52836200	Weak transcription	Primary hematopoietic stem cells	blood
25	chr8:52831600-52837200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr8:52831800-52841000	Weak transcription	Lung	lung
27	chr8:52831800-52858400	Weak transcription	Primary T cells from cord blood	blood
28	chr8:52831800-52863400	Weak transcription	Aorta	Aorta
29	chr8:52832000-52835600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr8:52832000-52836400	Weak transcription	Fetal Stomach	stomach
31	chr8:52832000-52838400	Weak transcription	Stomach Smooth Muscle	stomach
32	chr8:52832200-52835600	Weak transcription	Adipose Nuclei	Adipose
33	chr8:52834000-52835000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr8:52834000-52835400	Strong transcription	Primary B cells from cord blood	blood
35	chr8:52834000-52835400	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr8:52834200-52835200	Enhancers	Stomach Mucosa	stomach
37	chr8:52834200-52835400	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr8:52834200-52835600	Enhancers	Psoas Muscle	Psoas
39	chr8:52834400-52835000	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr8:52834800-52835000	Enhancers	Duodenum Mucosa	Duodenum
41	chr8:52834800-52835200	Enhancers	Fetal Intestine Large	intestine
42	chr8:52834800-52835200	Enhancers	Pancreas	Pancrea
43	chr8:52834800-52835400	Enhancers	Fetal Intestine Small	intestine

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