Variant report

Variant	rs2445714
Chromosome Location	chr8:95271195-95271196
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	chr8:95252636..95255137-chr8:95271154..95272846,2	MCF-7	breast:
2	chr8:95259315..95260909-chr8:95269095..95271460,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1032226	1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs1050627	0.82[EUR][1000 genomes]
rs1973222	0.80[EUR][1000 genomes]
rs2450557	0.89[CEU][hapmap];0.87[EUR][1000 genomes]
rs2515108	0.86[CEU][hapmap];0.88[EUR][1000 genomes]
rs2607072	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs930869	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs977273	0.86[ASN][1000 genomes]
rs977274	0.88[CHB][hapmap];0.93[JPT][hapmap];0.91[ASN][1000 genomes]
rs981678	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024907	chr8:95188944-95296378	Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv539677	chr8:95188944-95296378	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1024893	chr8:95189085-95293557	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1022489	chr8:95212660-95273564	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv539679	chr8:95212660-95273564	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1035036	chr8:95213244-95283014	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv831401	chr8:95218297-95393968	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv1022382	chr8:95261955-95283587	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv1023617	chr8:95261955-95284414	Genic enhancers Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95253200-95272200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr8:95254600-95272200	Weak transcription	GM12878-XiMat	blood
3	chr8:95254600-95273200	Weak transcription	Fetal Lung	lung
4	chr8:95254800-95271800	Weak transcription	Colonic Mucosa	Colon
5	chr8:95256800-95271400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:95257000-95272400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:95259600-95274000	Weak transcription	Primary T cells from cord blood	blood
8	chr8:95261000-95272400	Weak transcription	Psoas Muscle	Psoas
9	chr8:95261000-95272600	Weak transcription	Placenta	Placenta
10	chr8:95261200-95272200	Weak transcription	Liver	Liver
11	chr8:95263000-95271200	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr8:95263000-95272400	Weak transcription	Lung	lung
13	chr8:95263000-95272400	Weak transcription	Spleen	Spleen
14	chr8:95263000-95273800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr8:95263000-95273800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr8:95264200-95272400	Weak transcription	Brain Germinal Matrix	brain
17	chr8:95264400-95271200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr8:95264400-95272000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr8:95264400-95272400	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr8:95264600-95271400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr8:95264800-95273600	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr8:95265400-95272000	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr8:95265800-95271200	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr8:95267200-95272800	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
25	chr8:95267200-95273200	Transcr. at gene 5' and 3'	Aorta	Aorta
26	chr8:95267800-95271200	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
27	chr8:95267800-95272000	Strong transcription	Fetal Muscle Leg	muscle
28	chr8:95267800-95274000	Weak transcription	Gastric	stomach
29	chr8:95268000-95271200	Genic enhancers	Fetal Stomach	stomach
30	chr8:95268000-95271600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr8:95268000-95273000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr8:95268200-95273000	Transcr. at gene 5' and 3'	Duodenum Smooth Muscle	Duodenum
33	chr8:95268600-95272200	Strong transcription	Fetal Muscle Trunk	muscle
34	chr8:95269000-95271600	Weak transcription	Brain Hippocampus Middle	brain
35	chr8:95269200-95271600	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr8:95269200-95272400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr8:95269600-95271600	Enhancers	HMEC	breast
38	chr8:95269600-95273200	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr8:95269600-95273200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr8:95269600-95273600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr8:95269800-95271400	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
42	chr8:95269800-95273400	Transcr. at gene 5' and 3'	Colon Smooth Muscle	Colon
43	chr8:95269800-95274000	Transcr. at gene 5' and 3'	Pancreatic Islets	Pancreatic Islet
44	chr8:95270000-95271200	Weak transcription	Ovary	ovary
45	chr8:95270000-95271600	Enhancers	Duodenum Mucosa	Duodenum
46	chr8:95270200-95271400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr8:95270200-95272800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr8:95270200-95273800	Enhancers	HSMM	muscle
49	chr8:95270200-95274800	Active TSS	Rectal Mucosa Donor 29	rectum
50	chr8:95270200-95275000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--

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