Variant report

Variant	rs12541537
Chromosome Location	chr8:1816527-1816528
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	chr8:1815516..1817789-chr8:1884960..1887477,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11779733	0.84[CHD][hapmap]
rs12155817	0.86[CEU][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12674789	0.89[GIH][hapmap]
rs13252399	0.82[CEU][hapmap];0.96[GIH][hapmap];0.89[TSI][hapmap];0.88[EUR][1000 genomes]
rs13267804	0.88[EUR][1000 genomes]
rs13272734	0.96[EUR][1000 genomes]
rs13273520	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13273741	1.00[ASW][hapmap];0.95[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.96[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13277141	0.80[EUR][1000 genomes]
rs13277172	0.85[CEU][hapmap];0.90[EUR][1000 genomes]
rs13281104	0.84[EUR][1000 genomes]
rs17756577	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17756583	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17829629	0.86[CEU][hapmap];0.88[MEX][hapmap];0.83[TSI][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2272709	0.86[CEU][hapmap];0.87[CHB][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34807217	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3735866	0.93[GIH][hapmap];0.83[MEX][hapmap];0.86[TSI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3824134	0.86[CEU][hapmap];0.93[GIH][hapmap];0.83[MEX][hapmap];0.86[TSI][hapmap];0.90[EUR][1000 genomes]
rs3824137	0.93[GIH][hapmap];0.83[MEX][hapmap];0.83[TSI][hapmap];0.84[EUR][1000 genomes]
rs6990863	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7003839	0.86[CEU][hapmap];0.88[EUR][1000 genomes]
rs7003969	0.86[CEU][hapmap];0.87[CHB][hapmap];0.96[GIH][hapmap];0.83[MEX][hapmap];0.93[TSI][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv889697	chr8:1238564-1861971	Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv889704	chr8:1563904-1965389	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv889707	chr8:1581839-1920461	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv889708	chr8:1581839-1965389	Genic enhancers Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv889709	chr8:1581839-1965389	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking 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 miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv889711	chr8:1591412-1904157	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription 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 miRNA target site	14 gene(s)	inside rSNPs	diseases
7	nsv889712	chr8:1591412-2337777	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	nsv889714	chr8:1616718-1965389	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	nsv532892	chr8:1687433-1839578	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
10	nsv609531	chr8:1717036-1965389	Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
11	nsv1025444	chr8:1743663-1864809	Genic enhancers Active TSS Enhancers Strong transcription Weak transcription Flanking 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 miRNA target site	7 gene(s)	inside rSNPs	diseases
12	nsv539299	chr8:1743663-1864809	Active TSS Weak transcription Strong transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
13	nsv470167	chr8:1746949-1886640	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
14	nsv465277	chr8:1746950-1888447	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS 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 miRNA target site	9 gene(s)	inside rSNPs	diseases
15	nsv609533	chr8:1746950-1888447	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
16	nsv889717	chr8:1746950-1924237	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
17	nsv1017597	chr8:1748941-1865887	Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
18	nsv889722	chr8:1756800-1857293	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
19	nsv889723	chr8:1756800-1904157	Enhancers Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
20	nsv889724	chr8:1756800-1965389	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
21	nsv1031464	chr8:1763119-1848596	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
22	nsv889725	chr8:1765371-1816527	Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	7 gene(s)	inside rSNPs	diseases
23	nsv889728	chr8:1768004-1850622	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
24	nsv1019398	chr8:1788934-1829244	Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
25	nsv889729	chr8:1800560-1947417	Genic enhancers Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
26	nsv831207	chr8:1803355-1888324	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12541537	ARHGEF10	cis	cerebellum	SCAN
rs12541537	RPL23AP53	cis	cerebellum	SCAN

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1774000-1845000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr8:1802200-1845000	Weak transcription	Right Atrium	heart
3	chr8:1804200-1819400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr8:1804600-1816600	Strong transcription	Fetal Stomach	stomach
5	chr8:1805400-1820000	Weak transcription	Primary hematopoietic stem cells	blood
6	chr8:1805800-1819000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
7	chr8:1805800-1820400	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr8:1805800-1820800	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr8:1806000-1819200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr8:1806000-1828800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:1806000-1844000	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr8:1806200-1820600	Strong transcription	H1 Cell Line	embryonic stem cell
13	chr8:1806200-1821800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr8:1806200-1821800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr8:1806400-1818800	Strong transcription	Duodenum Smooth Muscle	Duodenum
16	chr8:1806400-1820600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:1806400-1839800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr8:1806800-1818400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr8:1807400-1818400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr8:1807800-1821000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr8:1808600-1848400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr8:1810400-1816800	Weak transcription	NH-A	brain
23	chr8:1810800-1821400	Weak transcription	Placenta	Placenta
24	chr8:1812000-1840400	Weak transcription	Fetal Brain Male	brain
25	chr8:1812200-1817200	Weak transcription	HSMMtube	muscle
26	chr8:1812800-1817400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr8:1813000-1817200	Strong transcription	Brain Inferior Temporal Lobe	brain
28	chr8:1813000-1840800	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr8:1813400-1819000	Strong transcription	Brain Anterior Caudate	brain
30	chr8:1814000-1835200	Weak transcription	Fetal Intestine Large	intestine
31	chr8:1814200-1817200	Weak transcription	HUVEC	blood vessel
32	chr8:1814400-1817400	Weak transcription	Brain Hippocampus Middle	brain
33	chr8:1814400-1817400	Weak transcription	A549	lung
34	chr8:1814400-1818200	Weak transcription	Pancreas	Pancrea
35	chr8:1814400-1822200	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr8:1814400-1834800	Weak transcription	Esophagus	oesophagus
37	chr8:1814600-1817400	Weak transcription	Aorta	Aorta
38	chr8:1814600-1817400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr8:1814600-1820400	Weak transcription	Brain Cingulate Gyrus	brain
40	chr8:1814600-1828200	Weak transcription	Brain Germinal Matrix	brain
41	chr8:1814600-1834000	Weak transcription	Spleen	Spleen
42	chr8:1814800-1816800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr8:1814800-1817000	Weak transcription	Brain Angular Gyrus	brain
44	chr8:1814800-1817200	Weak transcription	Brain Substantia Nigra	brain
45	chr8:1814800-1817400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr8:1814800-1817600	Weak transcription	NHLF	lung
47	chr8:1814800-1824800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr8:1814800-1834000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr8:1815000-1816600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr8:1815000-1817400	Weak transcription	Ovary	ovary

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