Variant report

Variant	rs11985985
Chromosome Location	chr8:120569676-120569677
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	chr8:120564971..120567945-chr8:120569047..120570627,2	MCF-7	breast:
2	chr8:120564011..120565822-chr8:120569287..120571062,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11991384	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16892512	1.00[MEX][hapmap]
rs16892525	1.00[MEX][hapmap]
rs16892528	1.00[MEX][hapmap]
rs16892739	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16892741	1.00[ASW][hapmap];1.00[GIH][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16892742	1.00[ASW][hapmap];1.00[GIH][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16892745	0.91[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16892746	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16892751	1.00[ASW][hapmap];1.00[GIH][hapmap];0.80[LWK][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16892771	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16892849	1.00[MEX][hapmap]
rs16892862	1.00[MEX][hapmap]
rs41408746	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41524345	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4595153	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7341607	1.00[GIH][hapmap];1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	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
3	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

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120562800-120575000	Weak transcription	Brain Cingulate Gyrus	brain
2	chr8:120565000-120595200	Weak transcription	Fetal Stomach	stomach
3	chr8:120565400-120570400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr8:120565800-120576000	Weak transcription	Left Ventricle	heart
5	chr8:120566000-120577400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr8:120566000-120577800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr8:120566000-120596800	Weak transcription	Spleen	Spleen
8	chr8:120566000-120609200	Weak transcription	Aorta	Aorta
9	chr8:120566200-120577000	Weak transcription	NHLF	lung
10	chr8:120566200-120577200	Weak transcription	Brain Angular Gyrus	brain
11	chr8:120566200-120578400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr8:120566400-120569800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr8:120566400-120571000	Weak transcription	Osteobl	bone
14	chr8:120566400-120571200	Weak transcription	Stomach Smooth Muscle	stomach
15	chr8:120566400-120579000	Weak transcription	Fetal Muscle Trunk	muscle
16	chr8:120566600-120570800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr8:120567000-120569800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr8:120567000-120569800	Strong transcription	Adipose Nuclei	Adipose
19	chr8:120567000-120577800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:120567000-120580200	Strong transcription	Placenta	Placenta
21	chr8:120567200-120569800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr8:120567600-120572800	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr8:120567800-120569800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr8:120567800-120569800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr8:120567800-120571800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr8:120568000-120570000	Strong transcription	Brain Hippocampus Middle	brain
27	chr8:120568000-120570400	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr8:120568000-120577800	Strong transcription	Liver	Liver
29	chr8:120568000-120595400	Weak transcription	Fetal Thymus	thymus
30	chr8:120568200-120569800	Strong transcription	NHDF-Ad	bronchial
31	chr8:120568200-120571200	Weak transcription	Brain Substantia Nigra	brain
32	chr8:120568200-120598000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr8:120568400-120582200	Weak transcription	Ovary	ovary
34	chr8:120568600-120594000	Weak transcription	Primary T cells from cord blood	blood
35	chr8:120568800-120574200	Strong transcription	Brain Anterior Caudate	brain
36	chr8:120568800-120576600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr8:120569000-120576000	Strong transcription	Fetal Lung	lung
38	chr8:120569200-120575800	Strong transcription	Duodenum Mucosa	Duodenum
39	chr8:120569400-120570200	Enhancers	Fetal Kidney	kidney
40	chr8:120569400-120573400	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr8:120569600-120613600	Weak transcription	Small Intestine	intestine

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