Variant report

Variant	rs662453
Chromosome Location	chr11:100760936-100760937
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:100760451..100762134-chr11:100763401..100765846,2	MCF-7	breast:

Extended variants
information (count: 117 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:115)

rs_ID	r²[population]
rs10501968	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10791431	0.98[ASN][1000 genomes]
rs10791440	1.00[CHB][hapmap];0.81[JPT][hapmap];0.80[MEX][hapmap]
rs11224507	0.94[ASN][1000 genomes]
rs11224508	0.91[ASN][1000 genomes]
rs11224509	0.95[ASN][1000 genomes]
rs11224526	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11224530	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11224538	0.84[GIH][hapmap]
rs1145434	0.93[ASN][1000 genomes]
rs11534487	0.93[ASN][1000 genomes]
rs12416898	0.92[ASN][1000 genomes]
rs12417055	0.98[ASN][1000 genomes]
rs12417065	0.98[ASN][1000 genomes]
rs12417366	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs12417367	1.00[CHB][hapmap];0.92[JPT][hapmap];0.87[ASN][1000 genomes]
rs12417750	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12417981	0.90[ASN][1000 genomes]
rs12418060	0.96[ASN][1000 genomes]
rs12418330	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs12418450	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs12418561	0.87[ASN][1000 genomes]
rs12418769	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs12419150	1.00[CHB][hapmap];0.95[CHD][hapmap];0.93[JPT][hapmap];0.93[ASN][1000 genomes]
rs12419214	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs12419257	0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs12420084	0.86[ASN][1000 genomes]
rs12420453	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs12420466	1.00[CHB][hapmap];0.94[CHD][hapmap];0.93[JPT][hapmap]
rs12420698	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs12420922	0.93[ASN][1000 genomes]
rs12421386	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs12421655	0.98[ASN][1000 genomes]
rs12422140	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs17095808	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17095820	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs17095829	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1893683	0.97[ASN][1000 genomes]
rs1940221	0.96[ASN][1000 genomes]
rs1943499	0.98[ASN][1000 genomes]
rs1943500	0.97[ASN][1000 genomes]
rs1944432	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.81[TSI][hapmap];0.85[ASN][1000 genomes]
rs1944433	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1944434	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2155444	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2155445	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2165664	0.96[ASN][1000 genomes]
rs2165665	0.92[ASN][1000 genomes]
rs2186784	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2186785	0.88[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs2186786	0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2277274	0.84[ASN][1000 genomes]
rs2277275	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2407822	0.97[ASN][1000 genomes]
rs2407823	0.97[ASN][1000 genomes]
rs2407825	0.97[ASN][1000 genomes]
rs28492796	0.93[ASN][1000 genomes]
rs2897779	0.97[ASN][1000 genomes]
rs3843607	0.96[ASN][1000 genomes]
rs3886266	0.96[ASN][1000 genomes]
rs4587692	0.97[ASN][1000 genomes]
rs473765	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs475432	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs4754708	0.97[ASN][1000 genomes]
rs4754709	0.97[ASN][1000 genomes]
rs479135	1.00[CHB][hapmap];0.93[JPT][hapmap];0.87[ASN][1000 genomes]
rs480145	0.87[ASN][1000 genomes]
rs485269	0.83[CHB][hapmap]
rs497234	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs501831	0.87[ASN][1000 genomes]
rs505458	1.00[CHB][hapmap];0.80[JPT][hapmap]
rs507858	0.94[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.82[ASN][1000 genomes]
rs515868	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs516873	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs527433	0.89[ASN][1000 genomes]
rs527689	0.96[ASN][1000 genomes]
rs533384	1.00[CHB][hapmap];0.81[JPT][hapmap];0.80[MEX][hapmap]
rs539648	0.93[ASN][1000 genomes]
rs540866	1.00[CHB][hapmap];0.92[CHD][hapmap];0.93[JPT][hapmap];0.80[MEX][hapmap];0.84[ASN][1000 genomes]
rs543146	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs549510	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs552490	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs554077	0.87[ASN][1000 genomes]
rs555825	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs55745131	0.93[ASN][1000 genomes]
rs56320976	0.97[ASN][1000 genomes]
rs563460	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs568618	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs57502383	0.89[ASN][1000 genomes]
rs575734	1.00[CHB][hapmap];0.81[JPT][hapmap];0.80[MEX][hapmap]
rs576472	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs583415	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs601016	0.87[ASN][1000 genomes]
rs60423120	0.84[ASN][1000 genomes]
rs60612076	0.87[ASN][1000 genomes]
rs623072	0.96[ASN][1000 genomes]
rs626529	0.92[ASN][1000 genomes]
rs634968	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs640326	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs647256	0.96[ASN][1000 genomes]
rs658497	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6590829	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.81[TSI][hapmap];0.84[ASN][1000 genomes]
rs6590830	0.84[ASN][1000 genomes]
rs6590831	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6590832	0.81[ASN][1000 genomes]
rs6590833	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs661973	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs668513	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs688146	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7110858	0.84[ASN][1000 genomes]
rs7114062	0.94[CHB][hapmap];0.93[JPT][hapmap];0.92[ASN][1000 genomes]
rs7130581	0.84[ASN][1000 genomes]
rs7130586	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs7933033	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.84[ASN][1000 genomes]
rs7950572	0.84[ASN][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	nsv1048356	chr11:100713096-101058995	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv541154	chr11:100713096-101058995	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs662453	DYNC2H1	cis	parietal	SCAN

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100749600-100761200	Weak transcription	HSMM	muscle
2	chr11:100752800-100761200	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr11:100755000-100766200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:100758400-100798400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr11:100758600-100773400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:100758600-100795200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr11:100758800-100789400	Weak transcription	Fetal Muscle Leg	muscle
8	chr11:100758800-100791200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr11:100759000-100761400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr11:100759400-100761000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr11:100759400-100761600	Enhancers	Fetal Heart	heart
12	chr11:100759400-100761800	Enhancers	Left Ventricle	heart
13	chr11:100759600-100761400	Enhancers	NH-A	brain
14	chr11:100760200-100761800	Enhancers	Liver	Liver
15	chr11:100760400-100762600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr11:100760600-100761000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr11:100760800-100761200	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr11:100760800-100761400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr11:100760800-100761400	Enhancers	Osteobl	bone
20	chr11:100760800-100761600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr11:100760800-100761800	Weak transcription	Right Ventricle	heart
22	chr11:100760800-100762000	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr11:100760800-100762000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr11:100760800-100763800	Enhancers	NHDF-Ad	bronchial

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