Variant report

Variant	rs11989738
Chromosome Location	chr8:91954454-91954455
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:91953160..91954843-chr8:91956616..91958207,2	K562	blood:
2	chr8:91924135..91926221-chr8:91953944..91955666,2	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10490979	0.85[CEU][hapmap];0.92[GIH][hapmap];0.86[TSI][hapmap];0.82[EUR][1000 genomes]
rs1060583	0.85[CEU][hapmap];0.84[GIH][hapmap];0.86[TSI][hapmap];0.82[EUR][1000 genomes]
rs11994240	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16905862	0.92[GIH][hapmap]
rs16907242	0.85[CEU][hapmap];0.82[EUR][1000 genomes]
rs34503257	0.82[EUR][1000 genomes]
rs4645524	0.82[EUR][1000 genomes]
rs55999403	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56871170	0.82[EUR][1000 genomes]
rs58183914	0.82[EUR][1000 genomes]
rs59695689	0.84[AFR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59801655	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60121972	0.82[EUR][1000 genomes]
rs6471263	0.81[EUR][1000 genomes]
rs6651175	0.85[CEU][hapmap];0.92[GIH][hapmap];0.86[TSI][hapmap];0.82[EUR][1000 genomes]
rs7006863	0.85[CEU][hapmap];0.84[EUR][1000 genomes]
rs73298068	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73299912	0.85[AFR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73299915	0.89[AFR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73299946	0.82[EUR][1000 genomes]
rs73299965	0.82[EUR][1000 genomes]
rs73299977	0.82[EUR][1000 genomes]
rs73299979	0.82[EUR][1000 genomes]
rs73299981	0.82[EUR][1000 genomes]
rs7818979	0.85[CEU][hapmap];0.82[EUR][1000 genomes]

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	nsv1028628	chr8:91680968-92418954	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised 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	30 gene(s)	inside rSNPs	diseases
2	nsv539672	chr8:91680968-92418954	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv891185	chr8:91923776-92056288	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91951800-91986400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr8:91952600-91955000	Enhancers	Fetal Muscle Leg	muscle
3	chr8:91952600-91956000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr8:91952600-91960200	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr8:91952800-91954600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr8:91952800-91954600	Enhancers	Fetal Kidney	kidney
7	chr8:91952800-91955400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:91953000-91964200	Weak transcription	Ovary	ovary
9	chr8:91953200-91956200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr8:91953200-91960000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr8:91953200-91960000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr8:91953200-91960600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr8:91953200-91964000	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr8:91953200-91967000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr8:91953400-91954600	Enhancers	Right Atrium	heart
16	chr8:91953400-91960000	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr8:91953400-91960200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr8:91953400-91967000	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr8:91953400-91972000	Weak transcription	NHDF-Ad	bronchial
20	chr8:91953400-91981400	Weak transcription	HSMM	muscle
21	chr8:91953400-91984600	Weak transcription	NH-A	brain
22	chr8:91953600-91954600	Enhancers	Fetal Heart	heart
23	chr8:91953600-91955200	Weak transcription	Adipose Nuclei	Adipose
24	chr8:91953600-91957400	Weak transcription	Aorta	Aorta
25	chr8:91953600-91957600	Weak transcription	Colon Smooth Muscle	Colon
26	chr8:91953600-91957800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr8:91953600-91957800	Weak transcription	Stomach Smooth Muscle	stomach
28	chr8:91953600-91958400	Weak transcription	Brain Angular Gyrus	brain
29	chr8:91953600-91959400	Weak transcription	Fetal Brain Male	brain
30	chr8:91953600-91960200	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr8:91953600-91960400	Weak transcription	Rectal Smooth Muscle	rectum
32	chr8:91953600-91963000	Weak transcription	Lung	lung
33	chr8:91953600-91965800	Weak transcription	NHLF	lung
34	chr8:91953600-91966600	Weak transcription	Right Ventricle	heart
35	chr8:91953600-91970000	Weak transcription	Brain Anterior Caudate	brain
36	chr8:91953600-91974800	Weak transcription	Brain Cingulate Gyrus	brain
37	chr8:91953600-91976000	Weak transcription	Brain Substantia Nigra	brain
38	chr8:91953600-91977600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr8:91953800-91958000	Weak transcription	Brain Hippocampus Middle	brain
40	chr8:91954000-91970600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr8:91954000-91974400	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr8:91954200-91954800	Enhancers	Fetal Stomach	stomach
43	chr8:91954200-91955400	Weak transcription	Fetal Lung	lung
44	chr8:91954400-91954600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr8:91954400-91955000	Enhancers	Left Ventricle	heart

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