Variant report

Variant	rs12335518
Chromosome Location	chr9:108196186-108196187
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	chr9:108191359..108193555-chr9:108195540..108197793,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10114564	1.00[GIH][hapmap]
rs10118989	1.00[TSI][hapmap]
rs11506819	1.00[TSI][hapmap]
rs12115775	1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12335407	1.00[CEU][hapmap];0.86[YRI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12335408	0.88[EUR][1000 genomes]
rs12338806	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12343676	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12346049	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12348331	1.00[GIH][hapmap]
rs13285648	1.00[TSI][hapmap]
rs13295239	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs13297766	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs13301941	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs16924583	1.00[GIH][hapmap]
rs16924597	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16924617	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs16924620	1.00[CEU][hapmap];0.93[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28425173	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28848179	0.94[EUR][1000 genomes]
rs34310266	1.00[EUR][1000 genomes]
rs34412410	0.94[EUR][1000 genomes]
rs35754489	1.00[EUR][1000 genomes]
rs4394455	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6477441	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6477443	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6477444	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7025543	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7027252	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7034136	1.00[TSI][hapmap]
rs7048586	1.00[TSI][hapmap]
rs71494531	0.94[EUR][1000 genomes]
rs71494532	0.94[EUR][1000 genomes]
rs7467335	1.00[CEU][hapmap];0.86[YRI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7855200	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7856524	1.00[TSI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1037750	chr9:108027692-108251733	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:108192600-108196600	Enhancers	Fetal Intestine Large	intestine
2	chr9:108193400-108196600	Enhancers	Fetal Intestine Small	intestine
3	chr9:108194000-108196600	Enhancers	Liver	Liver
4	chr9:108194400-108200400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr9:108194400-108200600	Weak transcription	Fetal Muscle Leg	muscle
6	chr9:108194600-108196200	Enhancers	Fetal Brain Male	brain
7	chr9:108194800-108197200	Weak transcription	Brain Substantia Nigra	brain
8	chr9:108194800-108200400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr9:108194800-108203800	Weak transcription	Brain Anterior Caudate	brain
10	chr9:108195000-108199000	Weak transcription	HSMMtube	muscle
11	chr9:108195000-108200000	Weak transcription	Brain Angular Gyrus	brain
12	chr9:108195000-108200200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr9:108195000-108200200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr9:108195000-108200800	Weak transcription	Pancreas	Pancrea
15	chr9:108195200-108196400	Enhancers	Rectal Mucosa Donor 29	rectum
16	chr9:108195200-108197800	Enhancers	HepG2	liver
17	chr9:108195200-108198600	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr9:108195200-108198600	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr9:108195200-108200400	Weak transcription	Brain Hippocampus Middle	brain
20	chr9:108195200-108200400	Weak transcription	Fetal Kidney	kidney
21	chr9:108195800-108197600	Weak transcription	Duodenum Mucosa	Duodenum
22	chr9:108195800-108209800	Weak transcription	Rectal Mucosa Donor 31	rectum

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