Variant report

Variant	rs1509347
Chromosome Location	chr8:120866948-120866949
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:120843501..120846699-chr8:120865917..120869113,7	MCF-7	breast:
2	chr8:120866790..120869291-chr8:121456136..121458268,2	MCF-7	breast:
3	chr8:120865666..120868065-chr8:124407235..124409746,2	K562	blood:
4	chr8:120866730..120869816-chr8:120885660..120889126,4	MCF-7	breast:
5	chr8:120842870..120846971-chr8:120866583..120869973,4	MCF-7	breast:
6	chr8:120866641..120870729-chr8:120883446..120889946,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000155792	Chromatin interaction
ENSG00000172167	Chromatin interaction
ENSG00000245330	Chromatin interaction
ENSG00000156802	Chromatin interaction
ENSG00000172172	Chromatin interaction
ENSG00000064313	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10505375	1.00[CHB][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes]
rs10955944	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes]
rs11985028	1.00[CHB][hapmap];1.00[MEX][hapmap]
rs11992314	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11995559	0.85[YRI][hapmap]
rs1519809	1.00[CHB][hapmap]
rs1519810	1.00[CHB][hapmap]
rs16892877	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs16893285	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs17816889	0.84[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs17820965	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes]
rs4128183	1.00[JPT][hapmap]
rs4871635	0.84[CEU][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.80[AMR][1000 genomes]
rs6469877	1.00[CHB][hapmap]
rs6993270	1.00[CHB][hapmap]
rs6999724	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs7000890	1.00[CHB][hapmap]
rs7007554	1.00[CHB][hapmap]
rs7008908	1.00[CHB][hapmap]
rs7011167	1.00[CHB][hapmap]
rs7017583	1.00[CHB][hapmap]
rs7814126	1.00[CHB][hapmap]
rs7818752	1.00[CHB][hapmap];1.00[CHD][hapmap]

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	nsv534028	chr8:120348940-120906079	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv949368	chr8:120568034-121019872	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1021071	chr8:120589963-120968317	Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv465789	chr8:120636850-120994394	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv612111	chr8:120636850-120994394	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv427826	chr8:120642181-120953395	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120845600-120867400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:120846000-120867200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:120846200-120867000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr8:120846200-120867000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr8:120846200-120867000	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr8:120846200-120867000	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr8:120846200-120867000	Weak transcription	Osteobl	bone
8	chr8:120846200-120867200	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr8:120846200-120867200	Weak transcription	Right Ventricle	heart
10	chr8:120846200-120867400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr8:120846200-120867600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:120846200-120867600	Weak transcription	Gastric	stomach
13	chr8:120846200-120867600	Weak transcription	Pancreas	Pancrea
14	chr8:120846400-120867000	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr8:120846400-120867200	Weak transcription	Liver	Liver
16	chr8:120846600-120867000	Weak transcription	Primary T cells from cord blood	blood
17	chr8:120847400-120867000	Weak transcription	HSMM	muscle
18	chr8:120850200-120867400	Weak transcription	Ovary	ovary
19	chr8:120850400-120867200	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr8:120850400-120867600	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr8:120850600-120867000	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr8:120850800-120867000	Weak transcription	Fetal Brain Female	brain
23	chr8:120852600-120867000	Weak transcription	Adipose Nuclei	Adipose
24	chr8:120852600-120867200	Weak transcription	Brain Hippocampus Middle	brain
25	chr8:120852800-120867000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr8:120853000-120867600	Weak transcription	Aorta	Aorta
27	chr8:120853800-120867000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr8:120853800-120867000	Weak transcription	Brain Angular Gyrus	brain
29	chr8:120854800-120867000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr8:120856200-120867200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr8:120857000-120867000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr8:120859200-120867000	Weak transcription	Fetal Intestine Small	intestine
33	chr8:120864000-120867200	Weak transcription	Fetal Muscle Trunk	muscle
34	chr8:120864600-120867000	Weak transcription	Brain Anterior Caudate	brain
35	chr8:120865400-120867400	Weak transcription	Lung	lung
36	chr8:120865400-120868600	Active TSS	GM12878-XiMat	blood
37	chr8:120865800-120867200	Weak transcription	Fetal Muscle Leg	muscle
38	chr8:120866000-120867200	Enhancers	HepG2	liver
39	chr8:120866000-120868600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr8:120866000-120868600	Active TSS	iPS-20b Cell Line	embryonic stem cell
41	chr8:120866000-120868800	Active TSS	iPS-15b Cell Line	embryonic stem cell
42	chr8:120866200-120867000	Enhancers	Fetal Lung	lung
43	chr8:120866200-120867200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr8:120866200-120867800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
45	chr8:120866200-120868400	Active TSS	H1 Cell Line	embryonic stem cell
46	chr8:120866400-120867000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
47	chr8:120866400-120867200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr8:120866400-120867200	Enhancers	NHLF	lung
49	chr8:120866400-120867600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr8:120866400-120867800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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