Variant report

Variant	rs2186784
Chromosome Location	chr11:100803010-100803011
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr11:100803001-100803688	SK-N-SH	brain:	n/a	chr11:100803411-100803430
2	JUN	chr11:100802700-100803014	HepG2	liver:	n/a	chr11:100802834-100802847
3	KAP1	chr11:100802989-100803507	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:100802948..100803667-chr11:101307051..101307600,2	K562	blood:
2	chr11:100448550..100449412-chr11:100802794..100803475,2	K562	blood:
3	chr11:100446552..100447865-chr11:100802950..100803911,5	K562	blood:
4	chr11:100446930..100447515-chr11:100802994..100803615,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000238388	TF binding region

Extended variants
information (count: 122 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:117)

rs_ID	r²[population]
rs10501968	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10791431	0.94[ASN][1000 genomes]
rs10791440	1.00[CHB][hapmap]
rs11224507	0.90[ASN][1000 genomes]
rs11224508	0.87[ASN][1000 genomes]
rs11224509	0.91[ASN][1000 genomes]
rs11224526	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs11224530	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1145434	0.99[ASN][1000 genomes]
rs11534487	0.89[ASN][1000 genomes]
rs12416898	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12417055	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12417065	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12417295	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12417366	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12417367	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12417750	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12417981	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12418060	0.94[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12418330	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12418344	1.00[EUR][1000 genomes]
rs12418450	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12418561	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12418769	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12419150	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12419214	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12419257	0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs12420084	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12420453	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12420466	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12420698	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12420922	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12421386	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12421655	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12422140	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17095808	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs17095820	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17095829	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1893683	0.93[ASN][1000 genomes]
rs1940221	0.95[ASN][1000 genomes]
rs1943499	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1943500	0.93[ASN][1000 genomes]
rs1944432	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1944433	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1944434	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2155444	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2155445	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2165664	0.91[ASN][1000 genomes]
rs2165665	0.88[ASN][1000 genomes]
rs2186785	0.87[CHB][hapmap];0.86[JPT][hapmap];0.95[ASN][1000 genomes]
rs2186786	0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2277274	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2277275	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2407822	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2407823	0.93[ASN][1000 genomes]
rs2407825	0.93[ASN][1000 genomes]
rs28492796	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2897779	0.93[ASN][1000 genomes]
rs3843607	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3886266	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4587692	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs473765	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs475432	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4754708	0.93[ASN][1000 genomes]
rs4754709	0.93[ASN][1000 genomes]
rs479135	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs480145	0.95[ASN][1000 genomes]
rs485269	0.83[CHB][hapmap]
rs497234	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs501831	0.95[ASN][1000 genomes]
rs505458	1.00[CHB][hapmap]
rs507858	0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs515868	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs516873	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs527433	0.96[ASN][1000 genomes]
rs527689	0.95[ASN][1000 genomes]
rs533384	1.00[CHB][hapmap]
rs539648	0.99[ASN][1000 genomes]
rs540866	1.00[CHB][hapmap];0.92[JPT][hapmap];0.91[ASN][1000 genomes]
rs543146	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs549510	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs552490	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs554077	0.95[ASN][1000 genomes]
rs555825	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs55745131	0.99[ASN][1000 genomes]
rs56320976	0.93[ASN][1000 genomes]
rs563460	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs568618	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs57502383	0.96[ASN][1000 genomes]
rs575734	1.00[CHB][hapmap]
rs576472	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs583415	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs601016	0.95[ASN][1000 genomes]
rs60423120	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60612076	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61995873	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs623072	0.95[ASN][1000 genomes]
rs626529	1.00[ASN][1000 genomes]
rs634968	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs640326	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs647256	0.95[ASN][1000 genomes]
rs658497	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs6590829	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs6590830	0.91[ASN][1000 genomes]
rs6590831	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs6590832	0.88[ASN][1000 genomes]
rs6590833	0.91[ASN][1000 genomes]
rs661973	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs662453	0.92[ASN][1000 genomes]
rs668513	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs688146	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7110858	0.91[ASN][1000 genomes]
rs7114062	0.94[CHB][hapmap];0.85[JPT][hapmap];1.00[ASN][1000 genomes]
rs7130581	0.91[ASN][1000 genomes]
rs7130586	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7933033	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7950572	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
3	nsv1054453	chr11:100802521-100814626	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
4	nsv1037830	chr11:100802521-100818129	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
5	nsv1051139	chr11:100802521-100819447	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100772000-100831400	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr11:100773800-100809800	Weak transcription	Left Ventricle	heart
3	chr11:100774800-100812800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr11:100784000-100808800	Weak transcription	Primary B cells from cord blood	blood
5	chr11:100785400-100838400	Weak transcription	Fetal Intestine Small	intestine
6	chr11:100786800-100806800	Weak transcription	Placenta	Placenta
7	chr11:100790000-100803200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr11:100790200-100812600	Weak transcription	Stomach Mucosa	stomach
9	chr11:100790400-100806600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr11:100793400-100807000	Weak transcription	Liver	Liver
11	chr11:100794200-100807000	Weak transcription	Fetal Muscle Leg	muscle
12	chr11:100794400-100812800	Weak transcription	Fetal Stomach	stomach
13	chr11:100795600-100807400	Weak transcription	Fetal Muscle Trunk	muscle
14	chr11:100797600-100811800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:100798600-100807600	Weak transcription	Ovary	ovary
16	chr11:100798600-100811600	Weak transcription	Fetal Lung	lung
17	chr11:100798600-100812800	Weak transcription	Brain Hippocampus Middle	brain
18	chr11:100798600-100826600	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr11:100798600-100828200	Weak transcription	Gastric	stomach
20	chr11:100798800-100807000	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr11:100798800-100811400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr11:100798800-100832200	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr11:100799200-100804600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr11:100799200-100812800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr11:100799200-100812800	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr11:100800200-100846600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr11:100800800-100835800	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr11:100801000-100807000	Weak transcription	Duodenum Mucosa	Duodenum
29	chr11:100801000-100809600	Weak transcription	Osteobl	bone
30	chr11:100801000-100812000	Weak transcription	Fetal Heart	heart
31	chr11:100801000-100814800	Weak transcription	HSMM	muscle
32	chr11:100801000-100819600	Weak transcription	HSMMtube	muscle
33	chr11:100801000-100823200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr11:100801000-100832400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr11:100801000-100835000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr11:100801400-100812600	Weak transcription	A549	lung
37	chr11:100801400-100833800	Weak transcription	NH-A	brain
38	chr11:100802800-100803600	Enhancers	GM12878-XiMat	blood
39	chr11:100802800-100803600	Enhancers	K562	blood
40	chr11:100803000-100803400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr11:100803000-100804000	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr11:100803000-100822600	Weak transcription	Primary B cells from peripheral blood	blood

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