Variant report

Variant	rs11204032
Chromosome Location	chr8:19204883-19204884
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:19198858..19201082-chr8:19203495..19205274,3	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11991640	0.84[CEU][hapmap]
rs13271942	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13279141	0.84[CEU][hapmap]
rs13279165	0.84[CEU][hapmap]
rs17128235	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17128236	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17128244	0.86[ASW][hapmap];0.84[CEU][hapmap];1.00[CHB][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.93[MEX][hapmap];0.82[YRI][hapmap];0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs17128261	0.84[CEU][hapmap];0.94[GIH][hapmap]
rs34053771	1.00[ASN][1000 genomes]
rs34326041	1.00[ASN][1000 genomes]
rs36023529	0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4922019	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs57174023	0.96[ASN][1000 genomes]
rs61149032	0.96[ASN][1000 genomes]
rs7015405	0.84[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.85[ASN][1000 genomes]
rs73599062	1.00[ASN][1000 genomes]
rs73599091	0.96[ASN][1000 genomes]
rs7835155	0.84[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026466	chr8:18433493-19271274	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers 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 target site	29 gene(s)	inside rSNPs	diseases
2	nsv539520	chr8:18433493-19271274	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1015395	chr8:18489538-19370258	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv429907	chr8:18578720-19398220	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv917232	chr8:18585309-19208665	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	nsv890610	chr8:18749120-19260599	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv949745	chr8:18826830-19363963	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer 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 target site	20 gene(s)	inside rSNPs	diseases
8	nsv1016482	chr8:18834807-19339487	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	nsv890614	chr8:18838764-19274793	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
10	nsv533109	chr8:18845845-19456780	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers 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 target site	20 gene(s)	inside rSNPs	diseases
11	nsv1016993	chr8:18855623-19311731	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
12	nsv949636	chr8:18957705-19664732	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
13	nsv1033229	chr8:19081684-19271274	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
14	nsv890621	chr8:19173379-19211220	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
15	nsv948861	chr8:19199688-19609029	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
16	nsv949304	chr8:19199688-19625912	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription 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 target site	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs11204032	LOXL2	cis	cerebellum	SCAN
rs11204032	MTMR7	cis	parietal	SCAN
rs11204032	PPP3CC	cis	parietal	SCAN
rs11204032	PCM1	cis	cerebellum	SCAN

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19173600-19254800	Weak transcription	Colonic Mucosa	Colon
2	chr8:19173800-19205400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr8:19174000-19223600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr8:19174200-19220400	Weak transcription	HSMM	muscle
5	chr8:19174400-19205200	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr8:19186200-19229800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr8:19190600-19205600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr8:19192600-19207800	Weak transcription	Esophagus	oesophagus
9	chr8:19193400-19210000	Weak transcription	Fetal Kidney	kidney
10	chr8:19194400-19215200	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr8:19195600-19231200	Weak transcription	Stomach Smooth Muscle	stomach
12	chr8:19196400-19215200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr8:19196400-19220400	Weak transcription	HMEC	breast
14	chr8:19196800-19213800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr8:19198000-19205400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr8:19198800-19205400	Weak transcription	NHEK	skin
17	chr8:19198800-19214800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr8:19199400-19205400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr8:19201800-19205800	Weak transcription	Liver	Liver
20	chr8:19201800-19206000	Genic enhancers	A549	lung
21	chr8:19202000-19205400	Weak transcription	Lung	lung
22	chr8:19202400-19205200	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr8:19202400-19205600	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr8:19202600-19205000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr8:19202600-19205600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr8:19202600-19205600	Enhancers	Primary T cells from cord blood	blood
27	chr8:19202600-19205600	Enhancers	Primary T cells fromperipheralblood	blood
28	chr8:19202600-19205800	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr8:19202600-19205800	Enhancers	Fetal Thymus	thymus
30	chr8:19202600-19206000	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr8:19202800-19205000	Enhancers	Right Atrium	heart
32	chr8:19202800-19206200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr8:19202800-19213800	Weak transcription	Placenta	Placenta
34	chr8:19203000-19205000	Strong transcription	NHDF-Ad	bronchial
35	chr8:19203000-19205200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr8:19203000-19206000	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr8:19203000-19208000	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr8:19203000-19218200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr8:19203600-19205800	Enhancers	HUVEC	blood vessel
40	chr8:19203600-19206400	Enhancers	Left Ventricle	heart
41	chr8:19203600-19206600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr8:19203800-19205800	Enhancers	Adipose Nuclei	Adipose
43	chr8:19203800-19206400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr8:19204000-19205600	Enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr8:19204000-19206600	Enhancers	Thymus	Thymus
46	chr8:19204200-19205000	Enhancers	Brain Cingulate Gyrus	brain
47	chr8:19204200-19205000	Flanking Active TSS	Ovary	ovary
48	chr8:19204200-19205600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr8:19204200-19205800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr8:19204200-19206000	Enhancers	Primary monocytes fromperipheralblood	blood

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