Variant report

Variant	rs2046399
Chromosome Location	chr8:9989124-9989125
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:9989052..9991739-chr8:9991879..9993683,2	K562	blood:

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10087802	0.89[JPT][hapmap]
rs10088663	0.95[ASN][1000 genomes]
rs10088890	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10090114	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10100022	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs1023961	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11984513	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11986122	0.81[ASN][1000 genomes]
rs11990555	0.89[JPT][hapmap]
rs11993089	0.81[ASN][1000 genomes]
rs12678797	0.89[JPT][hapmap]
rs12678800	0.89[JPT][hapmap]
rs13249486	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];1.00[ASN][1000 genomes]
rs13254175	0.89[JPT][hapmap]
rs13282106	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1351876	0.89[JPT][hapmap]
rs1484639	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1484640	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1484642	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1484644	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1521190	0.90[ASN][1000 genomes]
rs1531918	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1531919	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151244	0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs17689563	1.00[ASN][1000 genomes]
rs17689674	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs17739179	0.87[CEU][hapmap]
rs2046400	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2062331	0.89[JPT][hapmap]
rs2062332	0.88[JPT][hapmap]
rs2062333	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2220149	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2220150	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2628140	0.84[ASN][1000 genomes]
rs2661755	0.90[ASN][1000 genomes]
rs472514	1.00[CHB][hapmap]
rs4841281	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4841282	0.89[JPT][hapmap]
rs4841284	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4841285	0.95[ASN][1000 genomes]
rs569446	0.90[ASN][1000 genomes]
rs57726127	1.00[ASN][1000 genomes]
rs57980126	0.90[ASN][1000 genomes]
rs58133870	0.90[ASN][1000 genomes]
rs58437548	0.90[ASN][1000 genomes]
rs59759359	0.84[ASN][1000 genomes]
rs60465334	0.84[ASN][1000 genomes]
rs658385	0.85[ASN][1000 genomes]
rs6601414	0.89[JPT][hapmap]
rs6601415	0.89[JPT][hapmap]
rs685353	0.85[ASN][1000 genomes]
rs6983332	0.89[JPT][hapmap]
rs6986885	0.88[JPT][hapmap]
rs6986911	0.89[JPT][hapmap]
rs6995837	0.89[JPT][hapmap]
rs6995859	0.89[JPT][hapmap]
rs7005350	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs728878	0.84[ASN][1000 genomes]
rs7812741	0.84[ASN][1000 genomes]
rs7823314	0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs7823714	0.89[JPT][hapmap]
rs7832670	0.89[JPT][hapmap]
rs7833387	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7833895	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7843443	0.85[JPT][hapmap]
rs814405	0.84[ASN][1000 genomes]
rs923046	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs9329216	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs963592	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[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	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

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9970600-9995800	Weak transcription	Pancreas	Pancrea
2	chr8:9984600-9990800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:9986200-10002200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:9986800-9990200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr8:9987200-9992000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:9987200-9995800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr8:9987600-9990000	Enhancers	Fetal Brain Male	brain
8	chr8:9987800-9990200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr8:9988000-9990600	Enhancers	Fetal Intestine Large	intestine
10	chr8:9988200-9989200	Enhancers	H9 Cell Line	embryonic stem cell
11	chr8:9988200-9989200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:9988200-9990000	Enhancers	Fetal Intestine Small	intestine
13	chr8:9988400-9989200	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr8:9988600-9989200	Enhancers	Rectal Mucosa Donor 29	rectum
15	chr8:9988800-9989800	Weak transcription	Brain Anterior Caudate	brain
16	chr8:9988800-9991000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr8:9988800-9991800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:9988800-9991800	Weak transcription	Fetal Brain Female	brain
19	chr8:9988800-9992000	Weak transcription	Brain Germinal Matrix	brain
20	chr8:9988800-9996200	Weak transcription	Brain Hippocampus Middle	brain
21	chr8:9988800-10002200	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr8:9989000-9990000	Weak transcription	Liver	Liver
23	chr8:9989000-9991800	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr8:9989000-9992400	Weak transcription	Brain Substantia Nigra	brain
25	chr8:9989000-9995000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr8:9989000-9995200	Weak transcription	Brain Angular Gyrus	brain
27	chr8:9989000-10000400	Weak transcription	HUES64 Cell Line	embryonic stem cell

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