Variant report

Variant	rs7814111
Chromosome Location	chr8:61520858-61520859
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:61520531..61524778-chr8:61525857..61529848,4	K562	blood:
2	chr8:61519878..61522634-chr8:61564445..61566821,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254869	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11989127	1.00[EUR][1000 genomes]
rs11992608	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs16926368	1.00[AMR][1000 genomes]
rs16926384	1.00[AMR][1000 genomes]
rs16926417	1.00[AMR][1000 genomes]
rs16926456	1.00[AMR][1000 genomes]
rs3898502	1.00[AMR][1000 genomes]
rs41272433	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7004263	1.00[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7011437	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7827147	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7840220	1.00[AMR][1000 genomes]
rs7841906	1.00[CEU][hapmap];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv530383	chr8:61431756-61605551	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv870164	chr8:61484657-61529482	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv6218	chr8:61485410-61530933	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv1796952	chr8:61492893-61531418	Strong transcription Genic enhancers Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv831335	chr8:61497540-61688992	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 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	chr8:61481000-61527400	Weak transcription	Psoas Muscle	Psoas
2	chr8:61500400-61542200	Weak transcription	Hela-S3	cervix
3	chr8:61506000-61523200	Weak transcription	Fetal Heart	heart
4	chr8:61506000-61532200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr8:61506400-61532400	Weak transcription	NHLF	lung
6	chr8:61508000-61521600	Weak transcription	NHEK	skin
7	chr8:61508800-61533000	Weak transcription	HUVEC	blood vessel
8	chr8:61512400-61526200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr8:61512600-61521800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr8:61512800-61522600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr8:61512800-61527800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr8:61513000-61528400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr8:61515600-61521600	Weak transcription	Right Ventricle	heart
14	chr8:61515600-61532200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr8:61515600-61533400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr8:61516000-61532000	Weak transcription	NHDF-Ad	bronchial
17	chr8:61516200-61521400	Weak transcription	HMEC	breast
18	chr8:61516200-61533200	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr8:61517800-61522200	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr8:61517800-61532200	Weak transcription	Small Intestine	intestine
21	chr8:61517800-61537800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr8:61518000-61521400	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr8:61518000-61521400	Weak transcription	HepG2	liver
24	chr8:61518000-61522800	Strong transcription	Fetal Lung	lung
25	chr8:61518000-61524000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr8:61518000-61524200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr8:61518000-61530800	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr8:61518000-61532000	Weak transcription	Colon Smooth Muscle	Colon
29	chr8:61518000-61532000	Weak transcription	Fetal Brain Male	brain
30	chr8:61518000-61534000	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr8:61518000-61536600	Weak transcription	Aorta	Aorta
32	chr8:61518200-61521000	Weak transcription	Dnd41	blood
33	chr8:61518200-61521200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr8:61518200-61521200	Weak transcription	Lung	lung
35	chr8:61518200-61521200	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr8:61518200-61521200	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr8:61518200-61521200	Weak transcription	HSMMtube	muscle
38	chr8:61518200-61521400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr8:61518200-61521400	Weak transcription	Primary hematopoietic stem cells	blood
40	chr8:61518200-61521400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr8:61518200-61521400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr8:61518200-61521400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr8:61518200-61521400	Weak transcription	Colonic Mucosa	Colon
44	chr8:61518200-61521600	Weak transcription	Brain Germinal Matrix	brain
45	chr8:61518200-61521600	Weak transcription	Left Ventricle	heart
46	chr8:61518200-61521600	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr8:61518200-61521600	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr8:61518200-61521600	Weak transcription	Thymus	Thymus
49	chr8:61518200-61521600	Weak transcription	K562	blood
50	chr8:61518200-61523000	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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