Variant report

Variant	rs17012000
Chromosome Location	chr4:127936543-127936544
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:127930872..127934639-chr4:127934854..127936757,3	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10434047	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10518511	0.86[AMR][1000 genomes]
rs10518514	0.91[AMR][1000 genomes]
rs10518515	0.91[AMR][1000 genomes]
rs10518517	0.91[AMR][1000 genomes]
rs11098918	0.91[AMR][1000 genomes]
rs11938581	0.84[ASN][1000 genomes]
rs12639943	0.81[AMR][1000 genomes]
rs12640034	0.83[ASN][1000 genomes]
rs12641500	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12641850	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12642562	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12642936	0.82[ASN][1000 genomes]
rs12644202	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12645504	0.89[ASN][1000 genomes]
rs12648133	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12649215	0.95[AMR][1000 genomes]
rs12649338	0.83[ASN][1000 genomes]
rs12649568	0.91[AMR][1000 genomes]
rs12651138	0.95[AMR][1000 genomes]
rs12651411	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1397436	0.93[ASN][1000 genomes]
rs1510683	0.80[ASN][1000 genomes]
rs16997962	0.91[ASN][1000 genomes]
rs17011713	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17011836	0.95[CHB][hapmap]
rs17011894	0.83[ASN][1000 genomes]
rs17011898	0.83[ASN][1000 genomes]
rs17011980	0.96[ASN][1000 genomes]
rs17011996	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17012020	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17012036	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17012038	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17012040	1.00[AMR][1000 genomes]
rs17012078	0.95[AMR][1000 genomes]
rs17012138	0.91[AMR][1000 genomes]
rs17012147	0.95[AMR][1000 genomes]
rs17012149	0.95[AMR][1000 genomes]
rs1871736	0.95[AMR][1000 genomes]
rs1910441	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2391122	0.81[ASN][1000 genomes]
rs28627370	0.83[ASN][1000 genomes]
rs28721329	0.81[ASN][1000 genomes]
rs56822169	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57081812	0.91[AMR][1000 genomes]
rs57220017	0.83[ASN][1000 genomes]
rs57701757	0.91[AMR][1000 genomes]
rs58011980	0.87[ASN][1000 genomes]
rs58838664	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58916718	0.82[AMR][1000 genomes]
rs59789711	0.91[AMR][1000 genomes]
rs60595161	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60662614	0.91[ASN][1000 genomes]
rs60715791	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72925363	0.86[AMR][1000 genomes]
rs9884714	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830055	chr4:127794875-127993821	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv879913	chr4:127844803-127948196	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:127933200-127936800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr4:127936200-127938000	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr4:127936400-127936600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr4:127936400-127936800	Enhancers	Brain Germinal Matrix	brain
5	chr4:127936400-127937000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr4:127936400-127937000	Enhancers	NH-A	brain
7	chr4:127936400-127937200	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr4:127936400-127937200	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr4:127936400-127937200	Enhancers	Aorta	Aorta
10	chr4:127936400-127937400	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr4:127936400-127937800	Enhancers	Fetal Brain Male	brain

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