Variant report

Variant	rs7930454
Chromosome Location	chr11:73085034-73085035
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:73076489..73078676-chr11:73084006..73085731,2	K562	blood:
2	chr11:73078824..73081761-chr11:73082100..73086091,3	MCF-7	breast:
3	chr11:73068661..73071007-chr11:73084004..73086103,3	MCF-7	breast:

Extended variants
information (count: 57 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1002127	0.89[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes]
rs11235770	0.89[CEU][hapmap]
rs11544310	0.83[EUR][1000 genomes]
rs11821094	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs11823913	0.89[CEU][hapmap]
rs11828904	0.89[CEU][hapmap]
rs12276892	0.89[CEU][hapmap]
rs12288753	0.89[CEU][hapmap]
rs12290623	0.89[CEU][hapmap];0.80[EUR][1000 genomes]
rs17244596	0.89[CEU][hapmap];1.00[CHB][hapmap]
rs17244602	0.89[CEU][hapmap];1.00[CHB][hapmap]
rs17310361	0.89[CEU][hapmap];1.00[CHB][hapmap]
rs17310374	0.85[CEU][hapmap];1.00[CHB][hapmap]
rs17851510	0.89[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs1892855	1.00[ASN][1000 genomes]
rs1938777	0.89[CEU][hapmap]
rs2027760	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs2027761	1.00[CEU][hapmap];0.92[GIH][hapmap];0.86[TSI][hapmap];0.80[EUR][1000 genomes]
rs2027763	1.00[CEU][hapmap];0.92[GIH][hapmap];0.85[TSI][hapmap];0.85[EUR][1000 genomes]
rs2298469	0.89[CEU][hapmap]
rs3741149	1.00[CEU][hapmap]
rs3741151	1.00[ASN][1000 genomes]
rs3741152	1.00[CEU][hapmap]
rs60078907	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7102787	0.80[EUR][1000 genomes]
rs7105681	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes]
rs7105705	0.80[EUR][1000 genomes]
rs7107905	0.90[EUR][1000 genomes]
rs7110369	1.00[CHB][hapmap]
rs7112924	0.83[EUR][1000 genomes]
rs7114009	0.89[CEU][hapmap];0.80[EUR][1000 genomes]
rs7114376	0.89[CEU][hapmap]
rs7115055	0.89[CEU][hapmap];1.00[CHB][hapmap]
rs7115806	1.00[CEU][hapmap];0.86[TSI][hapmap]
rs7118982	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs7122825	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7123985	0.89[CEU][hapmap]
rs7125598	0.89[CEU][hapmap]
rs7125949	1.00[CEU][hapmap]
rs7125978	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs7129663	1.00[ASN][1000 genomes]
rs7129990	0.80[EUR][1000 genomes]
rs724111	0.89[CEU][hapmap];1.00[CHB][hapmap]
rs7925226	0.89[CEU][hapmap];1.00[CHB][hapmap]
rs7930880	1.00[CEU][hapmap]
rs7934218	0.89[CEU][hapmap]
rs7935948	0.89[CEU][hapmap]
rs7938391	0.89[CEU][hapmap]
rs7941359	0.89[CEU][hapmap]
rs7941454	0.99[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7944346	0.89[CEU][hapmap]
rs7951072	0.87[CEU][hapmap];1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832208	chr11:72876184-73091003	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	esv1821041	chr11:72937162-73113080	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	nsv825993	chr11:73029209-73091929	Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv897911	chr11:73044351-73108276	Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	esv3395161	chr11:73084616-73461577	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7930454	CCND1	cis	cerebellum	SCAN
rs7930454	P2RY2	cis	cerebellum	SCAN

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73059200-73087400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:73062600-73087400	Weak transcription	Liver	Liver
3	chr11:73072400-73087000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr11:73073200-73087000	Weak transcription	HMEC	breast
5	chr11:73073800-73087000	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr11:73074000-73086600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr11:73074200-73086600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr11:73075200-73086800	Weak transcription	Brain Substantia Nigra	brain
9	chr11:73076600-73086400	Weak transcription	Hela-S3	cervix
10	chr11:73077200-73086600	Weak transcription	A549	lung
11	chr11:73077200-73086800	Weak transcription	Pancreas	Pancrea
12	chr11:73077200-73087000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr11:73077200-73087000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr11:73077200-73087000	Weak transcription	Esophagus	oesophagus
15	chr11:73077200-73087000	Weak transcription	Fetal Kidney	kidney
16	chr11:73077400-73085400	Weak transcription	Brain Hippocampus Middle	brain
17	chr11:73077600-73086600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr11:73077600-73086800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:73077600-73086800	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr11:73077600-73086800	Weak transcription	Rectal Smooth Muscle	rectum
21	chr11:73077600-73087000	Weak transcription	Fetal Brain Male	brain
22	chr11:73077600-73087000	Weak transcription	NH-A	brain
23	chr11:73077800-73086600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr11:73077800-73087000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr11:73078400-73086600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr11:73079000-73086800	Weak transcription	Fetal Lung	lung
27	chr11:73079000-73087000	Weak transcription	Left Ventricle	heart
28	chr11:73079000-73087000	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr11:73079200-73086800	Weak transcription	Colon Smooth Muscle	Colon
30	chr11:73079400-73086600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr11:73079400-73087000	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr11:73079600-73086600	Weak transcription	Primary T cells from cord blood	blood
33	chr11:73079800-73086800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr11:73079800-73087000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr11:73080000-73087000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr11:73080000-73087400	Weak transcription	Ovary	ovary
37	chr11:73080400-73085400	Weak transcription	Brain Anterior Caudate	brain
38	chr11:73080400-73086800	Weak transcription	NHDF-Ad	bronchial
39	chr11:73080400-73087400	Weak transcription	Aorta	Aorta
40	chr11:73080600-73087400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr11:73080800-73086600	Weak transcription	Gastric	stomach
42	chr11:73080800-73087000	Weak transcription	HSMM	muscle
43	chr11:73080800-73087000	Weak transcription	HSMMtube	muscle
44	chr11:73081000-73086600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr11:73081000-73086600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr11:73081000-73086600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr11:73081000-73087000	Weak transcription	Brain Germinal Matrix	brain
48	chr11:73081000-73087000	Weak transcription	Fetal Brain Female	brain
49	chr11:73081000-73087000	Weak transcription	NHLF	lung
50	chr11:73081000-73087400	Weak transcription	Lung	lung

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