Variant report

Variant	rs2377982
Chromosome Location	chr10:50351884-50351885
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:50350582..50352155-chr10:50369514..50372257,2	K562	blood:
2	chr10:50351001..50354708-chr10:50363715..50366252,3	K562	blood:
3	chr10:50350311..50352698-chr10:50467909..50469606,2	K562	blood:
4	chr10:50341037..50342732-chr10:50351584..50354424,2	K562	blood:
5	chr10:50349765..50352493-chr10:50363448..50365064,2	K562	blood:

Variant related genes	Relation type
ENSG00000172538	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10218854	0.82[CHB][hapmap]
rs11100995	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11101001	0.82[CHB][hapmap];0.88[CHD][hapmap]
rs11592975	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs11594275	0.96[ASN][1000 genomes]
rs11594452	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11597983	1.00[ASN][1000 genomes]
rs11598768	0.96[ASN][1000 genomes]
rs12240840	0.93[EUR][1000 genomes]
rs12243520	0.96[ASN][1000 genomes]
rs17782866	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1806681	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2246796	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2377981	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2377983	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2377984	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3750744	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4073200	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4073201	0.96[ASN][1000 genomes]
rs4073202	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41306832	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4272720	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4284329	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4345884	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4603218	1.00[EUR][1000 genomes]
rs4838364	0.82[CHB][hapmap]
rs4838445	0.82[CHB][hapmap];0.88[CHD][hapmap]
rs4838449	0.99[EUR][1000 genomes]
rs4838453	0.83[EUR][1000 genomes]
rs4838455	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4838456	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4838458	0.94[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]
rs4838460	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4838464	0.83[ASN][1000 genomes]
rs55687538	0.96[ASN][1000 genomes]
rs55783415	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55890352	0.96[ASN][1000 genomes]
rs56235933	0.97[EUR][1000 genomes]
rs56364323	0.96[ASN][1000 genomes]
rs56737365	0.93[ASN][1000 genomes]
rs57286767	0.96[ASN][1000 genomes]
rs59728475	0.96[ASN][1000 genomes]
rs61060205	0.96[ASN][1000 genomes]
rs61848451	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6537495	0.82[CHB][hapmap];0.88[CHD][hapmap]
rs7080670	0.82[CHB][hapmap]
rs7081097	0.96[ASN][1000 genomes]
rs7088006	1.00[ASN][1000 genomes]
rs7094220	0.82[CHB][hapmap]
rs7094501	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7096516	0.82[CHB][hapmap];0.88[CHD][hapmap]
rs7097375	0.96[ASN][1000 genomes]
rs73302715	0.93[ASN][1000 genomes]
rs73302716	0.93[ASN][1000 genomes]
rs73302780	1.00[ASN][1000 genomes]
rs73302786	0.96[ASN][1000 genomes]
rs7895212	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7924204	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs9665275	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv534410	chr10:50317458-50826916	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2377982	DDR2	trans	cerebellum	SCAN
rs2377982	FRMPD2	cis	parietal	SCAN
rs2377982	GDF2	cis	parietal	SCAN
rs2377982	CSTF2T	cis	parietal	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50343000-50357800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr10:50344200-50352200	Weak transcription	Fetal Thymus	thymus
3	chr10:50346200-50354400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr10:50348000-50352200	Weak transcription	Duodenum Mucosa	Duodenum
5	chr10:50348800-50352200	Weak transcription	Right Atrium	heart
6	chr10:50349000-50352000	Weak transcription	Adipose Nuclei	Adipose
7	chr10:50349000-50352000	Weak transcription	Left Ventricle	heart
8	chr10:50349000-50352200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr10:50349600-50352000	Weak transcription	Ovary	ovary
10	chr10:50349600-50357200	Weak transcription	HSMM	muscle
11	chr10:50349800-50352000	Weak transcription	NHLF	lung
12	chr10:50349800-50354000	Weak transcription	K562	blood
13	chr10:50350400-50352400	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr10:50350600-50352400	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr10:50350800-50352000	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr10:50350800-50352200	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr10:50350800-50352400	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr10:50350800-50352400	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr10:50351000-50352400	Enhancers	H1 Cell Line	embryonic stem cell
20	chr10:50351400-50352400	Bivalent Enhancer	Fetal Stomach	stomach
21	chr10:50351400-50352600	Enhancers	Placenta	Placenta
22	chr10:50351400-50353400	Enhancers	Fetal Muscle Trunk	muscle
23	chr10:50351400-50354400	Enhancers	Fetal Lung	lung
24	chr10:50351400-50354400	Enhancers	Fetal Muscle Leg	muscle
25	chr10:50351600-50352000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr10:50351600-50354400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr10:50351600-50354400	Enhancers	NHDF-Ad	bronchial
28	chr10:50351800-50352000	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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