Variant report

Variant	rs6995168
Chromosome Location	chr8:130434371-130434372
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	chr8:130433486..130436461-chr8:130437244..130438809,2	K562	blood:
2	chr8:130432582..130435209-chr8:130544896..130547721,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GSDMC-9	chr8:130433122-130434408	ucscGeneNc_uc003ysq_1

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10100977	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10102471	0.83[ASN][1000 genomes]
rs10105579	0.89[EUR][1000 genomes]
rs1030626	0.85[ASN][1000 genomes]
rs10808579	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10808580	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10956479	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1118872	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11781179	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11787238	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12545968	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12681076	0.85[ASN][1000 genomes]
rs13250815	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1347052	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1347053	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1432360	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1432361	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1583247	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1594596	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1594597	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2217589	0.81[ASN][1000 genomes]
rs2395899	0.83[ASN][1000 genomes]
rs2579870	0.87[EUR][1000 genomes]
rs2579871	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2579872	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2579879	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2630507	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2630508	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2630510	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2719189	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2719211	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2719214	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2719218	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4733549	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6989293	0.83[ASN][1000 genomes]
rs6989619	0.83[ASN][1000 genomes]
rs6998642	0.82[ASN][1000 genomes]
rs7015941	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7828127	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7845472	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs891833	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9694939	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429942	chr8:130397818-130460011	Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv6394	chr8:130421502-130446035	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv3498936	chr8:130434070-130444018	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130410200-130434600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:130427000-130449000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:130429400-130437600	Enhancers	Dnd41	blood
4	chr8:130430200-130435600	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr8:130431200-130436000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr8:130431600-130435800	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr8:130432800-130436600	Enhancers	Fetal Thymus	thymus
8	chr8:130433000-130435200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr8:130433000-130435400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr8:130433200-130434600	Weak transcription	Adipose Nuclei	Adipose
11	chr8:130433200-130436600	Genic enhancers	K562	blood
12	chr8:130433400-130434600	Weak transcription	Right Atrium	heart
13	chr8:130434200-130435600	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr8:130434200-130436400	Enhancers	Thymus	Thymus

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