Variant report

Variant	rs830554
Chromosome Location	chr6:109543226-109543227
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:109542960..109544899-chr6:109700564..109702558,2	K562	blood:
2	chr6:109537846..109539361-chr6:109541996..109544593,2	MCF-7	breast:
3	chr6:109542871..109545801-chr6:109546672..109548924,2	K562	blood:
4	chr6:109541416..109543560-chr6:109616012..109618470,2	MCF-7	breast:
5	chr6:109541946..109544521-chr6:109546672..109551149,4	K562	blood:

Variant related genes	Relation type
ENSG00000135535	Chromatin interaction

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs11153161	0.99[ASN][1000 genomes]
rs11153165	0.87[CEU][hapmap]
rs11153166	0.87[CEU][hapmap];0.84[GIH][hapmap];0.88[TSI][hapmap];0.81[EUR][1000 genomes]
rs11153167	0.87[CEU][hapmap];0.84[GIH][hapmap];0.88[TSI][hapmap];0.81[EUR][1000 genomes]
rs11964178	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11966072	0.88[TSI][hapmap]
rs1260593	0.83[CEU][hapmap]
rs12664455	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1271693	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13196590	1.00[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.95[ASN][1000 genomes]
rs13200047	0.85[TSI][hapmap]
rs13202939	0.82[CEU][hapmap];0.81[TSI][hapmap]
rs13211313	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs13211944	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1741923	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2884036	0.82[CEU][hapmap]
rs34774766	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs351716	0.95[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.90[MKK][hapmap];0.88[TSI][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs351717	0.95[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.90[MKK][hapmap];0.83[TSI][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs351718	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs351719	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs351720	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs351721	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs351722	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs351723	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs351726	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs351727	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs351728	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs351730	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs351731	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs351732	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs351735	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs351736	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs351737	0.86[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs351742	0.83[CEU][hapmap]
rs351744	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs351746	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs351747	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs351750	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs351751	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs353052	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs371960	0.83[CEU][hapmap]
rs377436	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs386696	0.83[CEU][hapmap]
rs388526	0.99[ASN][1000 genomes]
rs396635	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs399561	0.83[CEU][hapmap]
rs408944	0.93[ASN][1000 genomes]
rs410449	0.99[ASN][1000 genomes]
rs412754	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs418093	0.97[ASN][1000 genomes]
rs421790	0.99[ASN][1000 genomes]
rs422113	0.95[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs427960	0.83[CEU][hapmap]
rs429534	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4301336	0.82[CEU][hapmap];0.81[TSI][hapmap]
rs436880	0.98[ASN][1000 genomes]
rs442405	0.83[CEU][hapmap]
rs446974	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs448496	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs449736	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs449850	0.83[CEU][hapmap]
rs4548045	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs455839	0.83[CEU][hapmap]
rs458185	0.83[CEU][hapmap]
rs458740	0.85[CEU][hapmap]
rs459956	0.83[CEU][hapmap]
rs461487	0.82[CEU][hapmap]
rs463503	0.86[CEU][hapmap]
rs463916	0.83[CEU][hapmap]
rs566164	0.91[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59673	0.95[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6919423	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs6925339	0.86[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7773490	0.87[CEU][hapmap];0.81[EUR][1000 genomes]
rs830552	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs830556	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9320278	0.95[ASN][1000 genomes]
rs9374076	0.80[EUR][1000 genomes]
rs9384701	1.00[CHB][hapmap];0.86[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.84[TSI][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9386774	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs9386775	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs9386779	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9400265	0.80[EUR][1000 genomes]
rs9400276	0.82[CEU][hapmap]
rs9487049	0.81[EUR][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	nsv527657	chr6:109533385-109579675	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv3413723	chr6:109541684-109544232	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:109517200-109544800	Weak transcription	Psoas Muscle	Psoas
2	chr6:109535200-109544000	Weak transcription	Aorta	Aorta
3	chr6:109535200-109545800	Weak transcription	Right Atrium	heart
4	chr6:109536000-109550800	Weak transcription	HSMMtube	muscle
5	chr6:109541600-109543400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr6:109542000-109544000	Weak transcription	K562	blood
7	chr6:109542000-109545400	Weak transcription	Fetal Thymus	thymus
8	chr6:109542200-109543400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr6:109542400-109544000	Weak transcription	Primary T cells from cord blood	blood
10	chr6:109542400-109544000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr6:109542400-109547800	Weak transcription	Stomach Mucosa	stomach
12	chr6:109542800-109543400	Enhancers	Adipose Nuclei	Adipose
13	chr6:109543200-109543600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle

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