Variant report

Variant	rs7012401
Chromosome Location	chr8:62610520-62610521
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:62608231..62611173-chr8:62624445..62626992,3	K562	blood:
2	chr8:62609192..62610719-chr8:62617736..62619435,2	MCF-7	breast:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10504331	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12375366	0.94[CEU][hapmap];0.85[EUR][1000 genomes]
rs13248720	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13257276	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13262237	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13282552	0.95[ASN][1000 genomes]
rs1878412	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1996376	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35087344	0.91[EUR][1000 genomes]
rs35165876	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35269225	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35271095	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs36026311	0.92[EUR][1000 genomes]
rs56225427	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs62505964	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62505968	0.81[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs62505969	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62508861	0.87[EUR][1000 genomes]
rs6471966	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6986031	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7002770	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7005567	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7830027	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7835930	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs949761	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs998427	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[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	nsv1024432	chr8:62086247-62898782	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1027742	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv539633	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv932198	chr8:62336705-62914562	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv890950	chr8:62517963-62617027	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	esv2761430	chr8:62517980-62873803	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	nsv1015216	chr8:62517980-62873803	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62534000-62612400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:62579400-62623000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr8:62590800-62612800	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr8:62596400-62612400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr8:62597800-62612400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:62600800-62612200	Weak transcription	Primary T cells from cord blood	blood
7	chr8:62601600-62611000	Weak transcription	Colonic Mucosa	Colon
8	chr8:62602800-62612400	Weak transcription	Brain Substantia Nigra	brain
9	chr8:62603000-62611200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr8:62603000-62612400	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr8:62603000-62612400	Weak transcription	Aorta	Aorta
12	chr8:62603000-62612400	Weak transcription	HSMM	muscle
13	chr8:62603000-62612600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr8:62603000-62612600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr8:62603000-62612800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr8:62603000-62612800	Weak transcription	Brain Hippocampus Middle	brain
17	chr8:62603000-62613600	Weak transcription	Fetal Lung	lung
18	chr8:62603200-62610600	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr8:62603200-62610800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr8:62604200-62611200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr8:62604200-62614000	Transcr. at gene 5' and 3'	A549	lung
22	chr8:62604400-62610600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr8:62604600-62612400	Weak transcription	Fetal Heart	heart
24	chr8:62605400-62612400	Enhancers	K562	blood
25	chr8:62605800-62612400	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr8:62605800-62612400	Weak transcription	Spleen	Spleen
27	chr8:62605800-62612600	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr8:62605800-62612800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr8:62606000-62612600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr8:62606000-62613000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr8:62606800-62611200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr8:62606800-62611400	Weak transcription	NH-A	brain
33	chr8:62607000-62610800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr8:62607000-62612800	Weak transcription	HMEC	breast
35	chr8:62607200-62610800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr8:62607200-62619000	Weak transcription	NHEK	skin
37	chr8:62607800-62610600	Enhancers	Left Ventricle	heart
38	chr8:62607800-62612200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr8:62607800-62612400	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr8:62608200-62611000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr8:62608200-62612400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr8:62608400-62610600	Weak transcription	Hela-S3	cervix
43	chr8:62608400-62611200	Weak transcription	Primary hematopoietic stem cells	blood
44	chr8:62608400-62612400	Weak transcription	Stomach Mucosa	stomach
45	chr8:62608600-62613800	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr8:62608800-62610600	Weak transcription	NHDF-Ad	bronchial
47	chr8:62608800-62611000	Weak transcription	Osteobl	bone
48	chr8:62608800-62611400	Weak transcription	Gastric	stomach
49	chr8:62608800-62611600	Weak transcription	Psoas Muscle	Psoas
50	chr8:62608800-62611600	Weak transcription	Right Ventricle	heart

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