Variant report

Variant	rs2498967
Chromosome Location	chr1:62433100-62433101
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11585194	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[JPT][hapmap];0.86[TSI][hapmap];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11801995	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[JPT][hapmap]
rs11804927	0.89[ASN][1000 genomes]
rs12725114	0.89[ASN][1000 genomes]
rs12725290	0.89[ASN][1000 genomes]
rs12735117	0.89[ASN][1000 genomes]
rs12740631	0.89[ASN][1000 genomes]
rs12748525	1.00[CHB][hapmap];0.82[JPT][hapmap];0.86[TSI][hapmap];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17122873	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[JPT][hapmap]
rs17313118	1.00[CHB][hapmap]
rs17378746	0.89[ASN][1000 genomes]
rs2365734	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[JPT][hapmap]
rs2482893	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[JPT][hapmap];0.89[ASN][1000 genomes]
rs2482894	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[JPT][hapmap];0.89[ASN][1000 genomes]
rs2886446	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[JPT][hapmap]
rs2990508	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34189113	0.89[ASN][1000 genomes]
rs34843158	0.89[ASN][1000 genomes]
rs36125117	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[JPT][hapmap]
rs6667051	0.89[ASN][1000 genomes]
rs7520931	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7553347	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv518627	chr1:62279594-62517947	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv522020	chr1:62279594-62517947	Active TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv531876	chr1:62302313-62504349	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv1004446	chr1:62394631-62813533	Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
5	nsv534984	chr1:62394631-62813533	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
6	nsv1110	chr1:62395723-62454435	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv546415	chr1:62405873-62437872	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1001667	chr1:62407786-62649838	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
9	nsv437210	chr1:62419727-62448245	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv2753481	chr1:62424207-62478878	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv1010655	chr1:62427826-62447302	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	esv3693433	chr1:62429665-62448451	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	esv1805048	chr1:62433100-62448451	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	esv1812337	chr1:62433100-62448451	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	esv1814392	chr1:62433100-62448451	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	esv1815127	chr1:62433100-62448451	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	esv1806702	chr1:62433100-62452173	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	esv1807506	chr1:62433100-62452173	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2498967	INADL	cis	cerebellum	SCAN

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62385000-62494200	Weak transcription	Aorta	Aorta
2	chr1:62409000-62436800	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr1:62409200-62456000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr1:62409200-62456800	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr1:62409200-62457000	Weak transcription	Fetal Intestine Large	intestine
6	chr1:62409200-62518600	Weak transcription	Pancreas	Pancrea
7	chr1:62409400-62458400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr1:62418200-62446400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:62418400-62441400	Weak transcription	Fetal Kidney	kidney
10	chr1:62419600-62445800	Weak transcription	Left Ventricle	heart
11	chr1:62423400-62433600	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr1:62423600-62433800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr1:62424200-62436600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr1:62424200-62494200	Weak transcription	Esophagus	oesophagus
15	chr1:62424800-62438200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr1:62425000-62441400	Weak transcription	Stomach Mucosa	stomach
17	chr1:62430600-62435400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:62430600-62442200	Weak transcription	Fetal Intestine Small	intestine
19	chr1:62432000-62433400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:62432000-62435600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr1:62432200-62439000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:62432400-62433600	Enhancers	NHEK	skin
23	chr1:62432400-62434000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr1:62432800-62433200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr1:62432800-62433400	Enhancers	HMEC	breast
26	chr1:62432800-62433600	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr1:62432800-62433800	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr1:62432800-62433800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr1:62433000-62434000	Enhancers	NH-A	brain

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