Variant report

Variant	rs1791161
Chromosome Location	chr18:29204210-29204211
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1026122	0.90[ASN][1000 genomes]
rs1026123	0.85[CEU][hapmap];0.86[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.80[TSI][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1078998	0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs11663991	0.91[EUR][1000 genomes]
rs12962843	0.81[ASN][1000 genomes]
rs1612691	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1621308	0.88[ASN][1000 genomes]
rs1667262	0.88[ASN][1000 genomes]
rs1667274	0.86[CHD][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs1667275	1.00[ASW][hapmap];1.00[CEU][hapmap];0.81[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.92[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1667276	0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs1667279	0.85[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1667280	0.85[CEU][hapmap];0.81[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1667281	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1667283	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1667284	1.00[ASW][hapmap];1.00[CEU][hapmap];0.81[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.92[MEX][hapmap];0.98[MKK][hapmap];0.98[TSI][hapmap];0.88[YRI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1667286	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1667287	1.00[CEU][hapmap];0.90[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1791169	0.86[CHD][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs1791171	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1791181	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1791192	0.83[ASN][1000 genomes]
rs1791193	0.83[ASN][1000 genomes]
rs1791221	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2595360	0.82[CHB][hapmap];0.87[CHD][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs3764474	0.89[CHD][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs3794878	0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs3794882	0.85[ASN][1000 genomes]
rs41447647	0.89[CHD][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs4799311	0.81[JPT][hapmap]
rs6506935	0.83[ASN][1000 genomes]
rs7242641	0.85[ASN][1000 genomes]
rs8097755	0.89[CHD][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs895888	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs974676	0.88[ASN][1000 genomes]
rs974677	0.88[ASN][1000 genomes]
rs9950458	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv909519	chr18:29172865-29330214	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv1816420	chr18:29201648-29207155	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv819046	chr18:29203488-29204230	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1791161	DSC1	cis	parietal	SCAN
rs1791161	AQP4	cis	cerebellum	SCAN

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29191400-29207000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr18:29191400-29207800	Weak transcription	Fetal Intestine Large	intestine
3	chr18:29191600-29205200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr18:29191800-29204800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr18:29191800-29207800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr18:29192200-29206200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr18:29192400-29217400	Weak transcription	Left Ventricle	heart
8	chr18:29194800-29205000	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr18:29194800-29226800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr18:29195200-29204800	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr18:29195400-29205400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr18:29195600-29206000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr18:29197000-29205200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr18:29197200-29210600	Weak transcription	Duodenum Mucosa	Duodenum
15	chr18:29197400-29207800	Weak transcription	Primary hematopoietic stem cells	blood
16	chr18:29197600-29204800	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr18:29197600-29204800	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr18:29197600-29206400	Weak transcription	Fetal Intestine Small	intestine
19	chr18:29197600-29224800	Weak transcription	Brain Anterior Caudate	brain
20	chr18:29197600-29224800	Weak transcription	Brain Germinal Matrix	brain
21	chr18:29197800-29204800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr18:29197800-29206200	Weak transcription	GM12878-XiMat	blood
23	chr18:29199200-29212400	Weak transcription	Aorta	Aorta
24	chr18:29199800-29204800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr18:29199800-29217200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr18:29200000-29204800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr18:29200000-29222400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr18:29200200-29208600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr18:29200200-29222000	Weak transcription	HMEC	breast
30	chr18:29200400-29210400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr18:29200800-29206600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr18:29201200-29204800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr18:29201400-29205400	Weak transcription	Dnd41	blood
34	chr18:29201600-29206200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr18:29202800-29235000	Weak transcription	Pancreas	Pancrea
36	chr18:29202800-29240200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr18:29203000-29208000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr18:29203200-29217000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr18:29203400-29211000	Weak transcription	HUVEC	blood vessel
40	chr18:29203800-29207800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr18:29203800-29220200	Weak transcription	Ovary	ovary
42	chr18:29203800-29226000	Weak transcription	Fetal Lung	lung
43	chr18:29203800-29227400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr18:29204000-29210000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr18:29204000-29210400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr18:29204000-29210400	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr18:29204000-29213600	Weak transcription	Thymus	Thymus
48	chr18:29204000-29228400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr18:29204200-29223200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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