Variant report

Variant	rs16904121
Chromosome Location	chr8:130600781-130600782
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:130599928..130602173-chr8:130605969..130607629,2	MCF-7	breast:
2	chr8:130596612..130598403-chr8:130600506..130602014,2	K562	blood:
3	chr8:128752647..128754445-chr8:130599397..130601060,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10098310	0.85[JPT][hapmap]
rs10103048	0.80[JPT][hapmap]
rs10107630	0.85[JPT][hapmap]
rs10956483	0.81[CHB][hapmap]
rs10956485	0.95[CHB][hapmap];0.85[JPT][hapmap]
rs11785889	1.00[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12542190	0.91[CHB][hapmap];0.82[ASN][1000 genomes]
rs12544501	0.81[ASN][1000 genomes]
rs12548063	0.81[ASN][1000 genomes]
rs12676406	0.94[ASN][1000 genomes]
rs12676428	0.93[ASN][1000 genomes]
rs12677963	0.86[CEU][hapmap];0.86[CHB][hapmap];0.81[CHD][hapmap];0.90[GIH][hapmap];0.82[YRI][hapmap];0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12681229	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13277237	0.85[JPT][hapmap]
rs1368700	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs1433577	0.91[CHB][hapmap];0.83[ASN][1000 genomes]
rs1433580	0.95[CHB][hapmap];0.85[JPT][hapmap];0.91[ASN][1000 genomes]
rs1433585	0.80[CEU][hapmap];0.83[TSI][hapmap];0.81[EUR][1000 genomes]
rs1583333	0.89[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.87[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1594774	0.81[ASN][1000 genomes]
rs16904119	0.91[CHB][hapmap];0.80[ASN][1000 genomes]
rs16904123	0.89[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16904126	0.80[CEU][hapmap];0.83[TSI][hapmap];0.80[EUR][1000 genomes]
rs1865223	0.85[JPT][hapmap]
rs1946627	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2043404	0.82[ASN][1000 genomes]
rs2163952	0.80[JPT][hapmap]
rs2395906	0.80[JPT][hapmap]
rs4319050	0.81[ASN][1000 genomes]
rs4407843	0.95[JPT][hapmap]
rs4480083	0.95[JPT][hapmap]
rs55964818	0.81[ASN][1000 genomes]
rs59292525	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs61453473	0.81[ASN][1000 genomes]
rs6470742	0.91[CHB][hapmap];0.81[CHD][hapmap];0.81[ASN][1000 genomes]
rs6470743	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs6982371	0.81[ASN][1000 genomes]
rs6982553	0.94[CHB][hapmap];0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs7000230	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7000289	0.95[CHB][hapmap];0.86[CHD][hapmap];0.81[JPT][hapmap];0.90[ASN][1000 genomes]
rs7000320	0.91[CHB][hapmap];0.81[ASN][1000 genomes]
rs7000372	0.86[CHB][hapmap]
rs7005227	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7006214	0.81[ASN][1000 genomes]
rs7008811	0.95[CHB][hapmap];0.98[CHD][hapmap];0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs7011870	0.91[CHB][hapmap];0.81[ASN][1000 genomes]
rs7840067	0.91[CHB][hapmap];0.81[ASN][1000 genomes]
rs7846327	0.91[CHB][hapmap];0.81[CHD][hapmap];0.81[ASN][1000 genomes]
rs9642890	0.81[ASN][1000 genomes]
rs996313	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs16904121	GSDMC	cis	parietal	SCAN
rs16904121	PHF20L1	cis	cerebellum	SCAN
rs16904121	FAM49B	cis	cerebellum	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130592400-130601200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr8:130592600-130603600	Enhancers	Dnd41	blood
3	chr8:130592600-130607000	Enhancers	Primary hematopoietic stem cells	blood
4	chr8:130595200-130602200	Weak transcription	Thymus	Thymus
5	chr8:130595200-130605800	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr8:130595600-130603400	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr8:130596000-130603600	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr8:130599400-130602200	Weak transcription	Fetal Muscle Leg	muscle
9	chr8:130599400-130605200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr8:130599400-130605400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr8:130599400-130605600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr8:130599800-130600800	Weak transcription	K562	blood
13	chr8:130600000-130602400	Weak transcription	Fetal Thymus	thymus

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