Variant report

Variant	rs7840728
Chromosome Location	chr8:120886370-120886371
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:120866730..120869816-chr8:120885660..120889126,4	MCF-7	breast:
2	chr8:120866641..120870729-chr8:120883446..120889946,10	MCF-7	breast:
3	chr8:120843931..120845591-chr8:120884671..120887601,2	MCF-7	breast:
4	chr8:120883686..120886465-chr8:121071792..121074526,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DSCC1-1	chr8:120885061-120886728	ENSG00000245330.4

Variant related genes	Relation type
ENSG00000187955	Chromatin interaction
ENSG00000064313	Chromatin interaction
ENSG00000136982	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12548715	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16893258	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1984977	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2326379	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28571066	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4870986	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4870988	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4870991	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871744	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5022559	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6980679	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6981618	0.92[ASN][1000 genomes]
rs6982701	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7000669	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7013639	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7018286	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73703111	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73703112	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73703114	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73703115	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7840156	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs955372	0.88[EUR][1000 genomes];0.92[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	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
8	nsv1027974	chr8:120885478-121079658	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv539739	chr8:120885478-121079658	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120885400-120886600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
2	chr8:120885400-120886800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr8:120885400-120887000	Active TSS	Fetal Brain Female	brain
4	chr8:120885400-120887400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr8:120885400-120887800	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr8:120885600-120886800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr8:120885600-120886800	Active TSS	Thymus	Thymus
8	chr8:120885600-120886800	Flanking Active TSS	Dnd41	blood
9	chr8:120885600-120887000	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr8:120885600-120887000	Flanking Active TSS	Primary B cells from cord blood	blood
11	chr8:120885600-120887000	Active TSS	Fetal Brain Male	brain
12	chr8:120885600-120887000	Active TSS	Left Ventricle	heart
13	chr8:120885600-120887200	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr8:120885600-120887200	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr8:120885600-120887200	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr8:120885600-120887200	Active TSS	Right Ventricle	heart
17	chr8:120885600-120887200	Active TSS	Sigmoid Colon	Sigmoid Colon
18	chr8:120885600-120887400	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr8:120885600-120887400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr8:120885600-120888200	Active TSS	Brain Hippocampus Middle	brain
21	chr8:120885600-120888200	Active TSS	Psoas Muscle	Psoas
22	chr8:120885600-120888200	Active TSS	Right Atrium	heart
23	chr8:120885600-120889000	Active TSS	Ovary	ovary
24	chr8:120885600-120890000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr8:120885800-120886400	Active TSS	Primary monocytes fromperipheralblood	blood
26	chr8:120885800-120886400	Active TSS	Primary T helper cells fromperipheralblood	blood
27	chr8:120885800-120886400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
28	chr8:120885800-120886400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
29	chr8:120885800-120886400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr8:120885800-120886400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr8:120885800-120886400	Active TSS	Cortex derived primary cultured neurospheres	brain
32	chr8:120885800-120886400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr8:120885800-120886400	Active TSS	Liver	Liver
34	chr8:120885800-120886400	Active TSS	Placenta	Placenta
35	chr8:120885800-120886400	Active TSS	K562	blood
36	chr8:120885800-120886600	Active TSS	Primary T cells from cord blood	blood
37	chr8:120885800-120886600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
38	chr8:120885800-120886600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr8:120885800-120886600	Active TSS	Muscle Satellite Cultured Cells	--
40	chr8:120885800-120886600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr8:120885800-120886600	Active TSS	Rectal Mucosa Donor 31	rectum
42	chr8:120885800-120886600	Active TSS	NH-A	brain
43	chr8:120885800-120886800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr8:120885800-120886800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
45	chr8:120885800-120886800	Active TSS	Primary T helper naive cells from peripheral blood	blood
46	chr8:120885800-120886800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
47	chr8:120885800-120886800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr8:120885800-120886800	Active TSS	Primary T killer memory cells from peripheral blood	blood
49	chr8:120885800-120886800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr8:120885800-120886800	Active TSS	Fetal Thymus	thymus

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