Variant report

Variant	rs2245797
Chromosome Location	chr8:95260200-95260201
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:95259639..95261936-chr8:95271778..95274388,2	MCF-7	breast:
2	chr8:95259315..95260909-chr8:95269095..95271460,2	MCF-7	breast:

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	1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs11985	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17036	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2245795	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2245796	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2445708	0.96[CEU][hapmap];0.86[CHB][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2445709	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2445710	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]
rs2445711	0.96[CEU][hapmap];0.80[CHB][hapmap];0.96[EUR][1000 genomes]
rs2446855	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2446860	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2448913	0.92[EUR][1000 genomes]
rs2514790	0.96[CEU][hapmap];0.86[CHB][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2515111	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2515114	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2515149	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2515150	0.85[AMR][1000 genomes];0.94[EUR][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:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95247200-95262400	Weak transcription	Gastric	stomach
2	chr8:95248200-95262200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:95251800-95262600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:95252800-95261000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr8:95252800-95262000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr8:95252800-95262400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr8:95252800-95262400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr8:95252800-95269200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr8:95253200-95272200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr8:95254200-95268600	Weak transcription	Brain Hippocampus Middle	brain
11	chr8:95254400-95261000	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr8:95254400-95264000	Weak transcription	Small Intestine	intestine
13	chr8:95254600-95262400	Weak transcription	Ovary	ovary
14	chr8:95254600-95262600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr8:95254600-95272200	Weak transcription	GM12878-XiMat	blood
16	chr8:95254600-95273200	Weak transcription	Fetal Lung	lung
17	chr8:95254800-95261000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr8:95254800-95261000	Weak transcription	Colon Smooth Muscle	Colon
19	chr8:95254800-95261800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:95254800-95262400	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr8:95254800-95262400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr8:95254800-95262400	Weak transcription	Left Ventricle	heart
23	chr8:95254800-95262400	Weak transcription	Rectal Smooth Muscle	rectum
24	chr8:95254800-95262400	Weak transcription	Spleen	Spleen
25	chr8:95254800-95271800	Weak transcription	Colonic Mucosa	Colon
26	chr8:95255000-95262400	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr8:95255000-95263800	Weak transcription	HSMMtube	muscle
28	chr8:95255200-95261000	Weak transcription	NH-A	brain
29	chr8:95255200-95262000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr8:95255200-95262000	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr8:95255200-95262200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr8:95255200-95262400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr8:95255200-95262400	Weak transcription	Duodenum Mucosa	Duodenum
34	chr8:95255200-95262600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr8:95255200-95262600	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr8:95255200-95266400	Weak transcription	Brain Anterior Caudate	brain
37	chr8:95255200-95270200	Weak transcription	HSMM	muscle
38	chr8:95255200-95271000	Weak transcription	Stomach Mucosa	stomach
39	chr8:95255400-95260200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr8:95255400-95260800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr8:95255400-95261000	Weak transcription	Fetal Intestine Large	intestine
42	chr8:95255400-95261000	Weak transcription	NHLF	lung
43	chr8:95255400-95261000	Weak transcription	Osteobl	bone
44	chr8:95255400-95261600	Weak transcription	HMEC	breast
45	chr8:95255400-95261800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr8:95255400-95262200	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr8:95255400-95262400	Weak transcription	Fetal Intestine Small	intestine
48	chr8:95255400-95262800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr8:95255600-95260800	Weak transcription	NHDF-Ad	bronchial
50	chr8:95255600-95262400	Weak transcription	Pancreatic Islets	Pancreatic Islet

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