Variant report

Variant	rs11785454
Chromosome Location	chr8:9991353-9991354
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:9985940..9988660-chr8:9990986..9993361,2	K562	blood:
2	chr8:9985280..9987758-chr8:9989379..9992085,2	K562	blood:
3	chr8:9989052..9991739-chr8:9991879..9993683,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10107485	0.81[ASN][1000 genomes]
rs1160369	0.89[ASN][1000 genomes]
rs11774411	0.88[ASN][1000 genomes]
rs11783851	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11785434	0.83[ASN][1000 genomes]
rs12542030	0.82[ASN][1000 genomes]
rs12545469	0.94[ASN][1000 genomes]
rs12545775	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12545788	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12547884	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12549943	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12674871	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs13249013	0.86[ASN][1000 genomes]
rs13256357	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1466555	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1484645	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1564808	0.83[ASN][1000 genomes]
rs17151142	0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs17151190	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17151201	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17155393	0.85[ASN][1000 genomes]
rs1984863	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2016221	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2898242	0.88[ASN][1000 genomes]
rs4841283	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs66602888	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6985791	0.88[ASN][1000 genomes]
rs7008407	0.90[ASN][1000 genomes]
rs7008695	0.84[ASN][1000 genomes]
rs7012601	0.90[ASN][1000 genomes]
rs7016690	0.90[ASN][1000 genomes]
rs72626643	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7830843	0.89[ASN][1000 genomes]
rs9329215	0.89[ASN][1000 genomes]
rs9644681	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916493	chr8:9806580-10029482	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv610263	chr8:9941021-10090149	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv1034343	chr8:9948342-10014155	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	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
5	nsv1027280	chr8:9958259-10058984	Enhancers Active TSS Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	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
7	esv1850829	chr8:9958321-10045451	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv3337484	chr8:9991119-9991711	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9970600-9995800	Weak transcription	Pancreas	Pancrea
2	chr8:9986200-10002200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:9987200-9992000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:9987200-9995800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr8:9988800-9991800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:9988800-9991800	Weak transcription	Fetal Brain Female	brain
7	chr8:9988800-9992000	Weak transcription	Brain Germinal Matrix	brain
8	chr8:9988800-9996200	Weak transcription	Brain Hippocampus Middle	brain
9	chr8:9988800-10002200	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr8:9989000-9991800	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr8:9989000-9992400	Weak transcription	Brain Substantia Nigra	brain
12	chr8:9989000-9995000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr8:9989000-9995200	Weak transcription	Brain Angular Gyrus	brain
14	chr8:9989000-10000400	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr8:9990000-9991800	Weak transcription	Fetal Intestine Small	intestine
16	chr8:9990000-9992800	Enhancers	Liver	Liver
17	chr8:9990200-9991800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr8:9990200-9992000	Weak transcription	Brain Anterior Caudate	brain
19	chr8:9990600-9992000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr8:9990800-9991600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr8:9990800-9992200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr8:9990800-9992200	Enhancers	HUVEC	blood vessel
23	chr8:9991000-9991400	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr8:9991000-9991600	Weak transcription	Lung	lung
25	chr8:9991000-9992800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:9991200-9991600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr8:9991200-9991600	Weak transcription	Fetal Brain Male	brain
28	chr8:9991200-9997600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr8:9991200-10004600	Weak transcription	Esophagus	oesophagus

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