Variant report

Variant	rs4486206
Chromosome Location	chr8:10127970-10127971
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:10118764..10122817-chr8:10126495..10130448,3	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs4240637	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4305909	0.80[JPT][hapmap];0.86[ASN][1000 genomes]
rs4483158	0.92[ASN][1000 genomes]
rs4841304	1.00[CHB][hapmap];0.84[JPT][hapmap];0.92[ASN][1000 genomes]
rs4841305	1.00[CHB][hapmap];0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs4841306	0.93[CHB][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs6996920	0.96[ASN][1000 genomes]
rs6997416	0.93[CHB][hapmap];0.94[JPT][hapmap];0.93[YRI][hapmap];0.96[ASN][1000 genomes]
rs7014056	0.91[ASN][1000 genomes]
rs7823072	0.93[CHB][hapmap];0.85[JPT][hapmap];0.91[ASN][1000 genomes]

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	nsv831230	chr8:9953343-10139350	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1021921	chr8:9958259-10212555	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv831231	chr8:10001214-10189094	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1026335	chr8:10037279-10139782	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv1030934	chr8:10065169-10561161	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv1016347	chr8:10091475-10223667	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1028650	chr8:10101815-10178537	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10096000-10128000	Weak transcription	Stomach Smooth Muscle	stomach
2	chr8:10118200-10128000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr8:10123000-10128000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr8:10123000-10138400	Weak transcription	Spleen	Spleen
5	chr8:10123600-10135400	Weak transcription	Fetal Intestine Small	intestine
6	chr8:10124800-10128000	Weak transcription	Fetal Brain Female	brain
7	chr8:10125400-10129600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr8:10125600-10128000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr8:10125600-10128200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr8:10125600-10130600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr8:10125600-10136000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr8:10125800-10128000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr8:10125800-10129600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr8:10126200-10129000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr8:10126200-10130000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr8:10126600-10132400	Enhancers	Fetal Brain Male	brain
17	chr8:10127000-10128000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:10127200-10129400	Weak transcription	Brain Germinal Matrix	brain
19	chr8:10127400-10129000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr8:10127600-10130400	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr8:10127800-10128200	Enhancers	Brain Angular Gyrus	brain
22	chr8:10127800-10128200	Enhancers	Brain Cingulate Gyrus	brain
23	chr8:10127800-10128200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr8:10127800-10128200	Enhancers	Colon Smooth Muscle	Colon
25	chr8:10127800-10128400	Enhancers	Brain Hippocampus Middle	brain
26	chr8:10127800-10128800	Enhancers	Brain Substantia Nigra	brain

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