Variant report

Variant	rs4285844
Chromosome Location	chr11:101387958-101387959
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 98 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs10501980	0.83[ASW][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];0.89[LWK][hapmap];0.86[MKK][hapmap];0.82[TSI][hapmap]
rs10501981	0.91[CHB][hapmap];0.87[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs10501986	0.94[ASW][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];0.85[LWK][hapmap];0.92[MKK][hapmap];0.91[TSI][hapmap];0.87[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs10750606	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.88[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10791477	0.82[CHB][hapmap]
rs10791478	0.82[CHB][hapmap];0.88[CHD][hapmap]
rs10791479	0.81[CEU][hapmap];0.91[CHB][hapmap]
rs10791481	0.90[CHB][hapmap]
rs10791485	0.83[ASW][hapmap];0.91[CHB][hapmap];0.84[CHD][hapmap];0.89[LWK][hapmap];0.85[MKK][hapmap];0.82[TSI][hapmap]
rs10791486	0.82[CHB][hapmap]
rs10791487	0.91[CHB][hapmap];0.82[AFR][1000 genomes]
rs10791488	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10791489	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10791490	0.94[ASW][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];0.87[LWK][hapmap];0.96[MKK][hapmap];0.89[TSI][hapmap];0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10791491	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10791492	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10791493	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10791494	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10895118	0.82[CHB][hapmap]
rs10895121	0.82[CHB][hapmap]
rs10895122	0.82[CHB][hapmap]
rs10895123	0.82[CHB][hapmap]
rs10895124	0.83[ASW][hapmap];0.91[CHB][hapmap];0.85[CHD][hapmap];0.91[LWK][hapmap];0.84[MKK][hapmap]
rs10895125	0.83[ASW][hapmap];0.91[CHB][hapmap];0.83[CHD][hapmap];0.89[LWK][hapmap];0.86[MKK][hapmap];0.82[TSI][hapmap];0.82[AFR][1000 genomes]
rs10895126	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.93[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10895127	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10895128	1.00[CHB][hapmap];0.91[JPT][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10895129	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10895130	1.00[CEU][hapmap];0.84[CHB][hapmap];0.81[JPT][hapmap];0.83[YRI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11224784	0.85[LWK][hapmap];0.86[MKK][hapmap]
rs11224790	0.82[CEU][hapmap];0.89[CHB][hapmap];0.80[AFR][1000 genomes]
rs11224791	0.83[ASW][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];0.89[LWK][hapmap];0.88[MKK][hapmap];0.82[TSI][hapmap]
rs11224792	0.83[ASW][hapmap];0.91[CHB][hapmap];0.87[CHD][hapmap];0.89[LWK][hapmap];0.88[MKK][hapmap];0.82[TSI][hapmap]
rs11224800	0.81[CEU][hapmap];0.91[CHB][hapmap];0.82[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs11224801	0.91[CHB][hapmap];0.81[AFR][1000 genomes]
rs11224802	0.91[CHB][hapmap];0.88[CHD][hapmap]
rs11224806	0.91[CHB][hapmap];0.86[CHD][hapmap]
rs11224816	1.00[CEU][hapmap];1.00[GIH][hapmap];0.81[LWK][hapmap];0.91[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.80[YRI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11224817	0.97[ASN][1000 genomes]
rs12361641	0.87[LWK][hapmap];0.86[MKK][hapmap]
rs17674687	0.91[CHB][hapmap]
rs17741661	0.82[CHB][hapmap]
rs17742220	0.91[CHB][hapmap]
rs4129253	0.82[CHB][hapmap];0.88[CHD][hapmap]
rs4129254	0.82[CHB][hapmap]
rs4129255	0.82[CHB][hapmap];0.87[CHD][hapmap]
rs4262694	0.91[CHB][hapmap];0.87[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs4272759	0.91[CHB][hapmap];0.92[CHD][hapmap]
rs4275596	1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[ASN][1000 genomes]
rs4331056	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];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4403777	0.82[CHB][hapmap];0.88[CHD][hapmap];0.82[TSI][hapmap]
rs4477408	0.91[CHB][hapmap];0.87[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs4481994	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4533005	0.87[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs4542378	0.89[CHB][hapmap];0.87[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs4578354	0.87[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs4619120	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6590867	0.80[AFR][1000 genomes]
rs6590869	0.81[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs6590870	0.83[ASW][hapmap];0.91[CHB][hapmap];0.87[CHD][hapmap];0.89[LWK][hapmap];0.88[MKK][hapmap];0.82[TSI][hapmap];0.82[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs6590872	0.80[CEU][hapmap];0.83[JPT][hapmap];0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6590873	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6590874	0.91[CHB][hapmap];0.86[YRI][hapmap];0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6590875	0.81[CEU][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6590876	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6590877	0.80[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6590878	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6590879	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7104033	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7105161	0.87[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs7109127	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7113034	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7115999	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.95[GIH][hapmap];0.85[JPT][hapmap];0.98[LWK][hapmap];0.95[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7116473	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.86[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7116629	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7123199	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7127243	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7128289	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7925012	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.95[LWK][hapmap];0.95[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7927661	0.91[CHB][hapmap];0.87[AFR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7927674	0.87[AFR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7927797	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7927803	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7927852	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7927859	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.93[JPT][hapmap];0.98[LWK][hapmap];0.95[MEX][hapmap];0.94[MKK][hapmap];0.98[TSI][hapmap];0.93[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7930876	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7932871	0.94[ASW][hapmap];0.91[CHB][hapmap];0.87[CHD][hapmap];0.85[LWK][hapmap];0.92[MKK][hapmap];0.91[TSI][hapmap];0.87[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs7933359	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7934116	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7934208	0.94[ASW][hapmap];0.91[CHB][hapmap];0.84[CHD][hapmap];0.85[LWK][hapmap];0.92[MKK][hapmap];0.89[TSI][hapmap];0.82[YRI][hapmap];0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7934219	0.90[CHB][hapmap];0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7934774	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7935702	0.91[CHB][hapmap];0.87[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs7937745	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7938806	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	nsv556131	chr11:100985777-101480017	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	nsv530644	chr11:101010088-101486038	Strong transcription Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
3	nsv898330	chr11:101243644-101722031	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4285844	DYNC2H1	cis	cerebellum	SCAN

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:101376200-101391600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr11:101384800-101388000	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr11:101384800-101388000	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr11:101384800-101388400	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr11:101385000-101388000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr11:101385000-101388000	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr11:101387000-101388000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr11:101387000-101388000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr11:101387200-101388000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr11:101387600-101388000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr11:101387600-101400800	Weak transcription	Ovary	ovary
12	chr11:101387800-101388000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr11:101387800-101388800	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr11:101387800-101391200	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr11:101387800-101391600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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