Variant report

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:103890051..103890606-chr12:104026106..104027016,2	MCF-7	breast:
2	chr12:103968812..103969756-chr12:104025690..104026992,7	K562	blood:
3	chr12:104026409..104027005-chr12:104162186..104163033,2	MCF-7	breast:
4	chr12:103968730..103969710-chr12:104025919..104027004,17	MCF-7	breast:
5	chr12:103946561..103948004-chr12:104026087..104026962,5	MCF-7	breast:
6	chr12:103276730..103277595-chr12:104026088..104027014,3	K562	blood:
7	chr12:103968837..103969670-chr12:104026108..104026999,6	MCF-7	breast:
8	chr12:104026135..104027046-chr12:104165031..104165600,2	MCF-7	breast:
9	chr12:103979507..103980822-chr12:104025776..104026985,11	MCF-7	breast:
10	chr12:104000010..104000726-chr12:104026150..104027124,2	K562	blood:
11	chr12:103979608..103980912-chr12:104026115..104027121,4	MCF-7	breast:
12	chr12:104025253..104027244-chr12:104037198..104039505,2	MCF-7	breast:
13	chr12:104026169..104027011-chr17:56179668..56180510,2	MCF-7	breast:
14	chr12:103942134..103943335-chr12:104026188..104026936,4	MCF-7	breast:
15	chr12:104026112..104026905-chr12:104163740..104164680,2	MCF-7	breast:
16	chr12:104026094..104026958-chr12:104035452..104036525,4	MCF-7	breast:
17	chr12:104026123..104026928-chr12:104138981..104139804,2	MCF-7	breast:
18	chr12:104026106..104026994-chr17:77396890..77397621,2	MCF-7	breast:
19	chr12:103341040..103341834-chr12:104026112..104026896,2	MCF-7	breast:
20	chr12:103342700..103343279-chr12:104026379..104027168,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000257681	Chromatin interaction

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1018034	1.00[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10861062	0.83[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10861063	0.87[GIH][hapmap]
rs10861065	0.83[CHB][hapmap]
rs11111682	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11111683	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11111690	0.80[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs1582876	0.87[GIH][hapmap]
rs1677979	0.89[GIH][hapmap];0.84[MKK][hapmap]
rs1826594	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73394090	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[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	nsv1052275	chr12:104008918-104044241	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1588888	NT5DC3	cis	cerebellum	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104023600-104033800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:104024000-104026800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr12:104026600-104028800	Weak transcription	Spleen	Spleen

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