Variant report

Variant	rs501493
Chromosome Location	chr8:103107967-103107968
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:103105888..103108288-chr8:103119187..103121586,2	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10111205	0.95[CEU][hapmap];0.89[TSI][hapmap]
rs501344	0.95[CHB][hapmap];0.93[CHD][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.81[TSI][hapmap];0.91[ASN][1000 genomes]
rs503342	0.91[CHB][hapmap];0.90[JPT][hapmap];0.84[MEX][hapmap]
rs503374	1.00[YRI][hapmap];0.87[EUR][1000 genomes]
rs509608	0.82[MKK][hapmap];1.00[YRI][hapmap]
rs533489	0.91[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs533695	0.91[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs555530	0.95[CHB][hapmap];0.83[ASN][1000 genomes]
rs556388	0.91[CHB][hapmap];0.83[CHD][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs561070	0.91[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs604234	0.91[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs636089	1.00[ASW][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.82[ASN][1000 genomes]
rs643260	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs670976	0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs681066	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs685501	0.82[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs687542	0.81[CHB][hapmap];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831411	chr8:102937991-103108140	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv891232	chr8:103001914-103138045	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	nsv891233	chr8:103001914-103162638	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
4	nsv891234	chr8:103020391-103113701	Flanking Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv891235	chr8:103032394-103162638	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
6	nsv891237	chr8:103039917-103113701	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv891238	chr8:103055520-103116959	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv891239	chr8:103056517-103162638	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
9	nsv891240	chr8:103070301-103162638	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
10	esv2754264	chr8:103070824-103170824	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
11	nsv891241	chr8:103079505-103162638	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs501493	GRHL2	cis	cerebellum	SCAN
rs501493	PABPC1	cis	cerebellum	SCAN

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103099400-103108200	Weak transcription	Aorta	Aorta
2	chr8:103104600-103108600	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr8:103104600-103112600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:103104800-103118800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr8:103105400-103108800	Weak transcription	Left Ventricle	heart
6	chr8:103106000-103117600	Weak transcription	Fetal Heart	heart
7	chr8:103106600-103109200	Enhancers	Sigmoid Colon	Sigmoid Colon
8	chr8:103106600-103111400	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr8:103107000-103108000	Enhancers	Rectal Smooth Muscle	rectum
10	chr8:103107000-103108400	Enhancers	Gastric	stomach
11	chr8:103107000-103108400	Enhancers	Stomach Smooth Muscle	stomach
12	chr8:103107000-103111200	Enhancers	Primary T cells fromperipheralblood	blood
13	chr8:103107000-103111600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr8:103107200-103108200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr8:103107200-103108800	Enhancers	Stomach Mucosa	stomach
16	chr8:103107200-103110800	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr8:103107200-103111200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr8:103107200-103111400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr8:103107400-103108400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr8:103107400-103108400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr8:103107400-103108600	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr8:103107400-103108600	Enhancers	Psoas Muscle	Psoas
23	chr8:103107400-103108800	Enhancers	Small Intestine	intestine
24	chr8:103107400-103110800	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr8:103107400-103111200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr8:103107600-103108000	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr8:103107600-103108600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:103107600-103114400	Weak transcription	Fetal Muscle Leg	muscle
29	chr8:103107800-103108000	Weak transcription	Lung	lung
30	chr8:103107800-103108200	Enhancers	GM12878-XiMat	blood
31	chr8:103107800-103109800	Weak transcription	Ovary	ovary

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