Variant report

Variant	rs6984045
Chromosome Location	chr8:131092413-131092414
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:131076898..131078962-chr8:131090903..131093353,2	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs55692599	0.91[EUR][1000 genomes]
rs55705977	0.91[EUR][1000 genomes]
rs55758693	0.91[EUR][1000 genomes]
rs55821463	0.91[EUR][1000 genomes]
rs55823176	0.91[EUR][1000 genomes]
rs55848037	0.91[EUR][1000 genomes]
rs55867508	0.91[EUR][1000 genomes]
rs55871312	0.91[EUR][1000 genomes]
rs55968438	0.91[EUR][1000 genomes]
rs55979731	0.91[EUR][1000 genomes]
rs56285703	0.91[EUR][1000 genomes]
rs56297697	0.91[EUR][1000 genomes]
rs56347021	0.91[EUR][1000 genomes]
rs6998031	1.00[YRI][hapmap];0.82[EUR][1000 genomes]
rs7004723	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[EUR][1000 genomes]
rs7815532	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[EUR][1000 genomes]
rs7821742	1.00[YRI][hapmap];0.82[EUR][1000 genomes]
rs7836688	1.00[YRI][hapmap];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018045	chr8:130863644-131122644	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv612231	chr8:130868212-131132592	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv524349	chr8:130868363-131132592	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv1017292	chr8:130887132-131107258	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv465808	chr8:130963259-131118658	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv612232	chr8:130963259-131118658	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv465810	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
10	nsv612234	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
11	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Multiple sclerosis	19525955	GWAS catalog

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131062400-131106200	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr8:131062600-131110600	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr8:131062800-131106400	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr8:131066400-131098000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr8:131068800-131095400	Weak transcription	Fetal Kidney	kidney
6	chr8:131070400-131101600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr8:131070600-131095800	Weak transcription	Colonic Mucosa	Colon
8	chr8:131075000-131106800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr8:131075600-131094400	Strong transcription	Stomach Smooth Muscle	stomach
10	chr8:131075600-131105000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr8:131076200-131170600	Weak transcription	Small Intestine	intestine
12	chr8:131076800-131097400	Weak transcription	Fetal Heart	heart
13	chr8:131077600-131097600	Strong transcription	Fetal Muscle Trunk	muscle
14	chr8:131079600-131097000	Strong transcription	Left Ventricle	heart
15	chr8:131080400-131107000	Strong transcription	Placenta	Placenta
16	chr8:131081000-131098000	Weak transcription	Fetal Brain Male	brain
17	chr8:131081200-131094800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr8:131081800-131093400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr8:131081800-131095400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr8:131082200-131094400	Strong transcription	Muscle Satellite Cultured Cells	--
21	chr8:131082400-131105400	Strong transcription	Cortex derived primary cultured neurospheres	brain
22	chr8:131082600-131092600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr8:131082600-131093800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr8:131082600-131094000	Strong transcription	NH-A	brain
25	chr8:131082800-131094400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr8:131082800-131095400	Strong transcription	Osteobl	bone
27	chr8:131083400-131104800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr8:131083400-131104800	Strong transcription	Fetal Intestine Large	intestine
29	chr8:131083600-131094400	Strong transcription	Fetal Brain Female	brain
30	chr8:131083600-131105600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr8:131083800-131093600	Strong transcription	Spleen	Spleen
32	chr8:131083800-131094200	Strong transcription	Liver	Liver
33	chr8:131083800-131094200	Strong transcription	Brain Germinal Matrix	brain
34	chr8:131083800-131095600	Strong transcription	NHLF	lung
35	chr8:131084000-131107400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr8:131084200-131104800	Strong transcription	Fetal Stomach	stomach
37	chr8:131084400-131104600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr8:131084400-131105600	Weak transcription	Stomach Mucosa	stomach
39	chr8:131084800-131094400	Strong transcription	Fetal Intestine Small	intestine
40	chr8:131085200-131092600	Strong transcription	Primary T cells from cord blood	blood
41	chr8:131085800-131094000	Strong transcription	Placenta Amnion	Placenta Amnion
42	chr8:131087200-131092800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr8:131087400-131096800	Strong transcription	Lung	lung
44	chr8:131087600-131095600	Weak transcription	Rectal Smooth Muscle	rectum
45	chr8:131087800-131098200	Weak transcription	Esophagus	oesophagus
46	chr8:131087800-131109600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr8:131088200-131099000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr8:131088200-131101200	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr8:131088600-131093600	Weak transcription	Primary hematopoietic stem cells	blood
50	chr8:131088600-131096600	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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