Variant report

Variant	rs4301336
Chromosome Location	chr6:109650140-109650141
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:109649495..109651298-chr6:109651628..109654623,3	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs11153166	0.88[TSI][hapmap]
rs11153167	0.88[TSI][hapmap]
rs11153168	0.88[CEU][hapmap];0.86[EUR][1000 genomes]
rs11751953	0.87[EUR][1000 genomes]
rs11966072	0.91[CEU][hapmap];0.81[MKK][hapmap];0.94[TSI][hapmap];0.89[YRI][hapmap];0.88[EUR][1000 genomes]
rs1260593	0.82[CEU][hapmap]
rs13195500	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13196219	0.91[CEU][hapmap];0.89[YRI][hapmap];0.87[EUR][1000 genomes]
rs13196590	0.83[CEU][hapmap]
rs13200047	0.88[CEU][hapmap];0.91[TSI][hapmap];0.86[EUR][1000 genomes]
rs13202939	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2884036	1.00[CEU][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs351719	0.82[CEU][hapmap];0.81[TSI][hapmap]
rs351720	0.82[CEU][hapmap]
rs351721	0.82[CEU][hapmap]
rs351723	0.82[CEU][hapmap]
rs351726	0.82[CEU][hapmap]
rs351727	0.82[CEU][hapmap]
rs351730	0.82[CEU][hapmap]
rs351737	0.81[TSI][hapmap]
rs351742	0.83[CEU][hapmap]
rs35757653	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35849756	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs371960	0.83[CEU][hapmap]
rs377436	0.82[CEU][hapmap];0.81[TSI][hapmap]
rs386696	0.83[CEU][hapmap]
rs399561	0.83[CEU][hapmap]
rs412754	0.82[CEU][hapmap]
rs422113	0.87[CEU][hapmap];0.81[TSI][hapmap]
rs427960	0.83[CEU][hapmap]
rs442405	0.83[CEU][hapmap]
rs446974	0.82[CEU][hapmap];0.81[TSI][hapmap]
rs449736	0.82[CEU][hapmap];0.81[TSI][hapmap]
rs449850	0.83[CEU][hapmap]
rs455839	0.83[CEU][hapmap]
rs458185	0.83[CEU][hapmap]
rs458740	0.80[CEU][hapmap]
rs459956	0.82[CEU][hapmap]
rs461487	0.82[CEU][hapmap]
rs463503	0.81[CEU][hapmap]
rs463916	0.83[CEU][hapmap]
rs566164	0.81[TSI][hapmap]
rs59502176	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs59673	0.87[CEU][hapmap];0.81[TSI][hapmap]
rs6925339	0.82[TSI][hapmap]
rs7773490	0.86[CHB][hapmap]
rs830554	0.82[CEU][hapmap];0.81[TSI][hapmap]
rs9374081	0.91[CEU][hapmap];1.00[YRI][hapmap];0.88[EUR][1000 genomes]
rs9400276	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.97[TSI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv5435	chr6:109633035-109669127	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4301336	KIAA1919	cis	cerebellum	SCAN

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:109629600-109654000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:109641000-109653600	Weak transcription	Small Intestine	intestine
3	chr6:109644600-109675200	Weak transcription	Primary T cells from cord blood	blood
4	chr6:109644800-109657400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr6:109645400-109653600	Weak transcription	Spleen	Spleen
6	chr6:109645400-109662400	Weak transcription	Aorta	Aorta
7	chr6:109647200-109651600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr6:109647600-109651400	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr6:109647800-109651200	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr6:109648600-109650600	Enhancers	Fetal Intestine Small	intestine
11	chr6:109648800-109650200	Enhancers	Fetal Intestine Large	intestine
12	chr6:109649000-109650200	Enhancers	HepG2	liver
13	chr6:109649200-109654000	Weak transcription	K562	blood
14	chr6:109649600-109653800	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr6:109649800-109650200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:109650000-109650200	Enhancers	Rectal Mucosa Donor 29	rectum
17	chr6:109650000-109650400	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr6:109650000-109650600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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