Variant report

Variant	rs2514790
Chromosome Location	chr8:95256309-95256310
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:95242861..95244943-chr8:95255431..95257356,2	MCF-7	breast:
2	chr8:95253573..95256395-chr8:95272971..95276826,4	MCF-7	breast:
3	chr8:95256075..95257959-chr8:95283640..95285924,2	K562	blood:

Variant related genes	Relation type
ENSG00000164949	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1050616	0.86[CHB][hapmap]
rs11985	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17036	0.91[CEU][hapmap];0.86[CHB][hapmap];0.92[EUR][1000 genomes]
rs2245795	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2245796	0.96[CEU][hapmap];0.86[CHB][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2245797	0.96[CEU][hapmap];0.86[CHB][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2445708	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2445709	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2445710	0.96[CEU][hapmap];0.86[CHB][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2445711	1.00[CEU][hapmap];0.93[CHB][hapmap];0.81[JPT][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2446855	0.92[CEU][hapmap];0.86[CHB][hapmap];0.92[EUR][1000 genomes]
rs2446860	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2448913	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2515111	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2515114	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2515149	0.92[CEU][hapmap];0.86[CHB][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2515150	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95247200-95262400	Weak transcription	Gastric	stomach
2	chr8:95247800-95256800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:95248200-95262200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:95250400-95259400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr8:95251800-95262600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr8:95252800-95261000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr8:95252800-95262000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr8:95252800-95262400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr8:95252800-95262400	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr8:95252800-95269200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr8:95253200-95272200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr8:95254200-95256600	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr8:95254200-95256800	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr8:95254200-95268600	Weak transcription	Brain Hippocampus Middle	brain
15	chr8:95254400-95259800	Weak transcription	Stomach Smooth Muscle	stomach
16	chr8:95254400-95261000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr8:95254400-95264000	Weak transcription	Small Intestine	intestine
18	chr8:95254600-95256400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr8:95254600-95256400	Weak transcription	Esophagus	oesophagus
20	chr8:95254600-95256400	Weak transcription	Right Atrium	heart
21	chr8:95254600-95256800	Weak transcription	Fetal Muscle Trunk	muscle
22	chr8:95254600-95262400	Weak transcription	Ovary	ovary
23	chr8:95254600-95262600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr8:95254600-95272200	Weak transcription	GM12878-XiMat	blood
25	chr8:95254600-95273200	Weak transcription	Fetal Lung	lung
26	chr8:95254800-95256400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr8:95254800-95256400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr8:95254800-95256400	Weak transcription	Pancreas	Pancrea
29	chr8:95254800-95261000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr8:95254800-95261000	Weak transcription	Colon Smooth Muscle	Colon
31	chr8:95254800-95261800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr8:95254800-95262400	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr8:95254800-95262400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr8:95254800-95262400	Weak transcription	Left Ventricle	heart
35	chr8:95254800-95262400	Weak transcription	Rectal Smooth Muscle	rectum
36	chr8:95254800-95262400	Weak transcription	Spleen	Spleen
37	chr8:95254800-95271800	Weak transcription	Colonic Mucosa	Colon
38	chr8:95255000-95256400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr8:95255000-95262400	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr8:95255000-95263800	Weak transcription	HSMMtube	muscle
41	chr8:95255200-95256400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr8:95255200-95256800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr8:95255200-95261000	Weak transcription	NH-A	brain
44	chr8:95255200-95262000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr8:95255200-95262000	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr8:95255200-95262200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr8:95255200-95262400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr8:95255200-95262400	Weak transcription	Duodenum Mucosa	Duodenum
49	chr8:95255200-95262600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr8:95255200-95262600	Weak transcription	Sigmoid Colon	Sigmoid Colon

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