Variant report

Variant	rs10216999
Chromosome Location	chr8:95267327-95267328
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	chr8:95264526..95268344-chr8:95270194..95275198,8	MCF-7	breast:
2	chr8:95265284..95269210-chr8:95271122..95274940,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164949	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1481431	0.82[CEU][hapmap]
rs16916642	0.91[ASN][1000 genomes]
rs17734778	0.91[EUR][1000 genomes]
rs17847127	0.94[ASN][1000 genomes]
rs17847131	0.88[ASN][1000 genomes]
rs4734273	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs4734274	1.00[CHB][hapmap];0.82[JPT][hapmap];0.94[ASN][1000 genomes]
rs4735278	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs4735279	1.00[CHB][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs4735281	1.00[CHB][hapmap];0.82[JPT][hapmap];0.94[ASN][1000 genomes]
rs58260930	0.94[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	chr8:95252800-95269200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr8:95253200-95272200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr8:95254200-95268600	Weak transcription	Brain Hippocampus Middle	brain
4	chr8:95254600-95272200	Weak transcription	GM12878-XiMat	blood
5	chr8:95254600-95273200	Weak transcription	Fetal Lung	lung
6	chr8:95254800-95271800	Weak transcription	Colonic Mucosa	Colon
7	chr8:95255200-95270200	Weak transcription	HSMM	muscle
8	chr8:95255200-95271000	Weak transcription	Stomach Mucosa	stomach
9	chr8:95256800-95271400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:95257000-95268000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr8:95257000-95270400	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr8:95257000-95270600	Weak transcription	Esophagus	oesophagus
13	chr8:95257000-95270600	Weak transcription	Pancreas	Pancrea
14	chr8:95257000-95272400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr8:95259200-95270800	Weak transcription	Fetal Thymus	thymus
16	chr8:95259600-95274000	Weak transcription	Primary T cells from cord blood	blood
17	chr8:95260800-95267800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr8:95260800-95271000	Weak transcription	Brain Cingulate Gyrus	brain
19	chr8:95261000-95270800	Strong transcription	Fetal Intestine Large	intestine
20	chr8:95261000-95272400	Weak transcription	Psoas Muscle	Psoas
21	chr8:95261000-95272600	Weak transcription	Placenta	Placenta
22	chr8:95261200-95270600	Weak transcription	Brain Substantia Nigra	brain
23	chr8:95261200-95272200	Weak transcription	Liver	Liver
24	chr8:95261400-95269000	Strong transcription	NH-A	brain
25	chr8:95261400-95269600	Strong transcription	Muscle Satellite Cultured Cells	--
26	chr8:95262000-95270000	Strong transcription	A549	lung
27	chr8:95262200-95271000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr8:95262400-95269200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr8:95262400-95270600	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr8:95263000-95271000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr8:95263000-95271200	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr8:95263000-95272400	Weak transcription	Lung	lung
33	chr8:95263000-95272400	Weak transcription	Spleen	Spleen
34	chr8:95263000-95273800	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr8:95263000-95273800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr8:95263400-95267400	Weak transcription	Thymus	Thymus
37	chr8:95263400-95269200	Weak transcription	NHEK	skin
38	chr8:95263600-95269600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr8:95264200-95269800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr8:95264200-95272400	Weak transcription	Brain Germinal Matrix	brain
41	chr8:95264400-95271200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr8:95264400-95272000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr8:95264400-95272400	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr8:95264600-95267600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr8:95264600-95267800	Weak transcription	Fetal Muscle Leg	muscle
46	chr8:95264600-95270200	Weak transcription	Small Intestine	intestine
47	chr8:95264600-95270400	Weak transcription	HSMMtube	muscle
48	chr8:95264600-95271400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr8:95264800-95268600	Weak transcription	Fetal Muscle Trunk	muscle
50	chr8:95264800-95269000	Weak transcription	Right Ventricle	heart

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