Variant report

Variant	rs2326432
Chromosome Location	chr8:120932912-120932913
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 88 )
Associated
traits (count: 17 )

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10092845	0.83[EUR][1000 genomes]
rs10099088	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.91[TSI][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10102995	0.95[CEU][hapmap];1.00[JPT][hapmap]
rs10955942	0.85[EUR][1000 genomes]
rs11984773	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs11984866	0.90[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes]
rs11998247	0.87[CEU][hapmap];1.00[JPT][hapmap]
rs12541326	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12541733	1.00[CHB][hapmap]
rs12543242	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12545586	0.86[EUR][1000 genomes]
rs12548248	0.91[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.81[TSI][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12677306	1.00[CEU][hapmap];0.81[YRI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12679478	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[GIH][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.81[YRI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13263147	0.86[EUR][1000 genomes]
rs13265513	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13265734	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13277786	0.90[EUR][1000 genomes]
rs13278508	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13280041	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs16893299	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.91[TSI][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1879149	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2002377	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2017310	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2056305	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2139430	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2139431	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2176750	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28461628	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28546392	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28600928	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35362581	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4073559	0.91[CEU][hapmap];0.85[EUR][1000 genomes]
rs4455866	0.82[ASN][1000 genomes]
rs4871010	0.91[CEU][hapmap];0.81[TSI][hapmap];0.86[EUR][1000 genomes]
rs4871011	0.91[CEU][hapmap];0.81[TSI][hapmap];0.86[EUR][1000 genomes]
rs4871786	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.91[TSI][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4871793	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.91[TSI][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4871795	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56177421	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62528673	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62528677	0.85[EUR][1000 genomes]
rs62528692	0.83[EUR][1000 genomes]
rs6469860	0.85[EUR][1000 genomes]
rs6469866	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6469869	0.83[EUR][1000 genomes]
rs6469873	0.80[EUR][1000 genomes]
rs6469875	1.00[CEU][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6469876	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6995862	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs6996081	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs6999911	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7000068	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7000488	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7004324	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7005888	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7007672	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7018038	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7388491	0.91[CEU][hapmap];0.81[MEX][hapmap];0.81[TSI][hapmap];0.87[EUR][1000 genomes]
rs7461170	0.90[CEU][hapmap];1.00[CHB][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7462839	0.85[AFR][1000 genomes]
rs7813263	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.85[EUR][1000 genomes]
rs7813430	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7815122	0.88[LWK][hapmap]
rs7823280	0.91[CEU][hapmap]
rs7838578	0.86[EUR][1000 genomes]
rs7845043	0.87[EUR][1000 genomes]
rs869340	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs869341	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9297607	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9649948	0.91[CEU][hapmap];0.81[MEX][hapmap];0.81[TSI][hapmap];0.85[EUR][1000 genomes]
rs9649949	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9987135	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9987139	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9987140	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9987142	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9987165	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9987297	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949368	chr8:120568034-121019872	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv1021071	chr8:120589963-120968317	Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	nsv465789	chr8:120636850-120994394	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv612111	chr8:120636850-120994394	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv427826	chr8:120642181-120953395	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv1027974	chr8:120885478-121079658	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv539739	chr8:120885478-121079658	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv972194	chr8:120898451-120965081	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	nsv1018953	chr8:120910380-120954832	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:17)

SNP	Gene	Cis/trans	Tissue	Source
rs2326432	DSCC1	cis	Muscle Skeletal	GTEx
rs2326432	DEPDC6	cis	cerebellum	SCAN
rs2326432	DSCC1	cis	cerebellum	SCAN
rs2326432	DEPDC6	cis	uninvolved skin	skin_eQTL
rs2326432	DSCC1	cis	Thyroid	GTEx
rs2326432	DSCC1	cis	Esophagus Muscularis	GTEx
rs2326432	DSCC1	cis	parietal	SCAN
rs2326432	DSCC1	cis	Skin Sun Exposed Lower leg	GTEx
rs2326432	DSCC1	cis	Adipose Subcutaneous	GTEx
rs2326432	DSCC1	cis	Nerve Tibial	GTEx
rs2326432	DEPTOR	cis	Esophagus Muscularis	GTEx
rs2326432	DEPDC6	cis	lesional skin	skin_eQTL
rs2326432	DSCC1	cis	Artery Tibial	GTEx
rs2326432	DSCC1	cis	Artery Aorta	GTEx
rs2326432	VGLL2	trans	parietal	SCAN
rs2326432	DSCC1	cis	lung	GTEx
rs2326432	DSCC1	cis	Cerebellum	GTEx

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120923000-120935400	Enhancers	Stomach Mucosa	stomach
2	chr8:120926200-120944400	Weak transcription	Primary T cells from cord blood	blood
3	chr8:120927000-120933000	Enhancers	HepG2	liver
4	chr8:120927000-120934000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr8:120927200-120933200	Enhancers	Fetal Intestine Large	intestine
6	chr8:120927400-120933400	Enhancers	Fetal Intestine Small	intestine
7	chr8:120927600-120933000	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr8:120927600-120933000	Enhancers	Duodenum Mucosa	Duodenum
9	chr8:120927600-120933200	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr8:120928400-120933600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr8:120928600-120933000	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr8:120928600-120933200	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr8:120928600-120933400	Enhancers	Fetal Muscle Leg	muscle
14	chr8:120928800-120933200	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr8:120930200-120933000	Enhancers	Colonic Mucosa	Colon
16	chr8:120930400-120933200	Enhancers	Primary hematopoietic stem cells	blood
17	chr8:120931000-120933000	Enhancers	Colon Smooth Muscle	Colon
18	chr8:120931000-120933200	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr8:120931000-120933200	Enhancers	Liver	Liver
20	chr8:120931000-120933200	Enhancers	Fetal Brain Male	brain
21	chr8:120931000-120933200	Enhancers	Rectal Smooth Muscle	rectum
22	chr8:120931200-120933000	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr8:120931200-120933200	Enhancers	Adipose Nuclei	Adipose
24	chr8:120931400-120933000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr8:120931400-120933200	Enhancers	Fetal Stomach	stomach
26	chr8:120931600-120933000	Enhancers	Small Intestine	intestine
27	chr8:120931800-120933000	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr8:120931800-120933000	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr8:120931800-120933000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
30	chr8:120931800-120933000	Enhancers	HSMMtube	muscle
31	chr8:120931800-120933200	Enhancers	Fetal Kidney	kidney
32	chr8:120931800-120933200	Enhancers	Right Atrium	heart
33	chr8:120931800-120933400	Enhancers	Sigmoid Colon	Sigmoid Colon
34	chr8:120932000-120933000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
35	chr8:120932000-120933000	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr8:120932000-120944800	Weak transcription	Aorta	Aorta
37	chr8:120932200-120933000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr8:120932200-120933200	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr8:120932200-120933200	Enhancers	Stomach Smooth Muscle	stomach
40	chr8:120932400-120933000	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr8:120932400-120933000	Flanking Active TSS	Brain Angular Gyrus	brain
42	chr8:120932400-120933000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
43	chr8:120932400-120933000	Enhancers	Placenta	Placenta
44	chr8:120932400-120933200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr8:120932400-120933200	Enhancers	Right Ventricle	heart
46	chr8:120932400-120933200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr8:120932600-120933000	Enhancers	H9 Cell Line	embryonic stem cell
48	chr8:120932600-120933000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr8:120932600-120933000	Enhancers	Esophagus	oesophagus
50	chr8:120932600-120933000	Enhancers	A549	lung

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