Variant report

Variant	rs11227447
Chromosome Location	chr11:66048280-66048281
allele	C/G
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	CTCF	chr11:66048140-66048290	HA-sp	spinal cord:	n/a	n/a
2	POLR2A	chr11:66047636-66048864	GM12892	blood:	n/a	n/a
3	POLR2A	chr11:66047765-66048503	GM12878	blood:	n/a	n/a
4	POLR2A	chr11:66047872-66051632	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr11:66047747-66050922	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr11:66048249-66048540	HepG2	liver:	n/a	n/a
7	POLR2A	chr11:66047722-66051154	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr11:66047335-66048695	GM12891	blood:	n/a	n/a
9	POLR2A	chr11:66047062-66051216	HepG2	liver:	n/a	n/a
10	POLR2A	chr11:66047595-66050920	HepG2	liver:	n/a	n/a
11	POLR2A	chr11:66047747-66048336	H1-neurons	neurons:	n/a	n/a
12	POLR2A	chr11:66047630-66050409	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:66047571..66049763-chr11:66079162..66081273,2	K562	blood:
2	chr11:66045260..66048745-chr11:66100560..66104011,3	K562	blood:
3	chr11:66047213..66049788-chr11:66097470..66100241,3	K562	blood:

Variant related genes	Relation type
ENSG00000254452	TF binding region
ENSG00000245156	TF binding region
CNIH2	TF binding region
ENSG00000174791	Chromatin interaction
ENSG00000254756	Chromatin interaction
ENSG00000254458	Chromatin interaction

Extended variants
information (count: 106 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs10750777	0.83[ASN][1000 genomes]
rs10750778	0.90[ASN][1000 genomes]
rs10750780	0.86[ASN][1000 genomes]
rs10750781	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10791849	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10791850	0.87[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs10791851	0.91[ASN][1000 genomes]
rs10791852	0.91[ASN][1000 genomes]
rs10791854	0.95[ASN][1000 genomes]
rs10791855	0.95[ASN][1000 genomes]
rs10791858	0.97[ASN][1000 genomes]
rs10791859	0.97[ASN][1000 genomes]
rs10791860	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10791861	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10791862	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10791863	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10896077	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs10896080	0.84[ASN][1000 genomes]
rs10896081	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.84[ASN][1000 genomes]
rs10896085	0.87[ASN][1000 genomes]
rs10896087	0.87[ASN][1000 genomes]
rs10896089	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10896090	0.91[ASN][1000 genomes]
rs10896091	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.91[ASN][1000 genomes]
rs10896093	0.92[ASN][1000 genomes]
rs10896094	0.92[ASN][1000 genomes]
rs10896098	0.93[ASN][1000 genomes]
rs10896099	0.95[ASN][1000 genomes]
rs10896100	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10896105	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11227409	0.84[ASN][1000 genomes]
rs11227410	0.82[YRI][hapmap];0.84[ASN][1000 genomes]
rs11227411	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.84[ASN][1000 genomes]
rs11227413	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.84[ASN][1000 genomes]
rs11227414	0.83[ASN][1000 genomes]
rs11227415	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.83[ASN][1000 genomes]
rs11227420	0.91[ASN][1000 genomes]
rs11227433	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11227439	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11227448	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227452	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11607393	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.84[ASN][1000 genomes]
rs12797158	0.95[ASN][1000 genomes]
rs12797586	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12800670	0.95[ASN][1000 genomes]
rs1862005	0.81[ASN][1000 genomes]
rs2017969	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2155030	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2155031	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2155198	0.93[CEU][hapmap];0.80[YRI][hapmap];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2155201	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2177053	0.95[ASN][1000 genomes]
rs2177054	0.83[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2236651	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2236652	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2276036	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2282568	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2293121	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.94[ASN][1000 genomes]
rs2298466	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2298468	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2889313	0.85[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs3132851	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3814738	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3825067	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.84[ASN][1000 genomes]
rs3862386	0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3953856	0.87[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs4013917	0.87[ASN][1000 genomes]
rs4393319	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4483592	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs476551	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs512421	0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs535395	0.81[CEU][hapmap]
rs560393	0.91[ASN][1000 genomes]
rs6591207	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.91[ASN][1000 genomes]
rs6591208	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.91[ASN][1000 genomes]
rs7120326	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap]
rs7124165	1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs71270566	0.83[EUR][1000 genomes]
rs7925123	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7926402	0.84[ASN][1000 genomes]
rs7929909	0.91[ASN][1000 genomes]
rs7931477	0.87[ASN][1000 genomes]
rs7931544	0.87[ASN][1000 genomes]
rs7935336	0.84[ASN][1000 genomes]
rs7941431	0.93[ASN][1000 genomes]
rs7941469	0.81[CEU][hapmap]
rs7943911	0.91[ASN][1000 genomes]
rs7945723	0.96[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7946917	0.89[CHB][hapmap];0.82[JPT][hapmap];0.93[YRI][hapmap];0.92[ASN][1000 genomes]
rs7951079	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs918299	0.87[ASN][1000 genomes]
rs9645684	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.86[ASN][1000 genomes]
rs9736673	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	esv3407551	chr11:65794503-66158322	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	esv3392427	chr11:65981489-66273695	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
4	nsv897771	chr11:66011280-66362997	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
5	nsv897772	chr11:66018155-66254085	Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
6	nsv897773	chr11:66041807-66063654	Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	nsv555223	chr11:66041807-66064126	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
8	nsv897774	chr11:66042962-66063654	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	nsv897775	chr11:66042962-66064850	Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv897776	chr11:66042962-66066349	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
11	nsv897777	chr11:66044882-66063654	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
12	nsv897778	chr11:66044882-66066349	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
13	nsv897779	chr11:66047523-66063654	Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66040800-66049600	Weak transcription	NHDF-Ad	bronchial
2	chr11:66042000-66055600	Weak transcription	Fetal Kidney	kidney
3	chr11:66042600-66048400	Weak transcription	A549	lung
4	chr11:66042800-66050200	Weak transcription	K562	blood
5	chr11:66043000-66050200	Weak transcription	Hela-S3	cervix
6	chr11:66044200-66048600	Weak transcription	NHLF	lung
7	chr11:66044200-66050200	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr11:66044200-66051800	Weak transcription	Fetal Lung	lung
9	chr11:66045400-66049200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr11:66045400-66050000	Weak transcription	Gastric	stomach
11	chr11:66045600-66049600	Weak transcription	Duodenum Mucosa	Duodenum
12	chr11:66045600-66049600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr11:66045600-66049600	Weak transcription	GM12878-XiMat	blood
14	chr11:66045600-66050200	Weak transcription	Liver	Liver
15	chr11:66045600-66051800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr11:66045600-66051800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr11:66045600-66051800	Weak transcription	Esophagus	oesophagus
18	chr11:66045600-66052000	Weak transcription	Pancreas	Pancrea
19	chr11:66046000-66049600	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr11:66046000-66049800	Weak transcription	Left Ventricle	heart
21	chr11:66046000-66050800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr11:66046000-66052200	Weak transcription	HMEC	breast
23	chr11:66046000-66054000	Weak transcription	Aorta	Aorta
24	chr11:66046200-66050200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr11:66046400-66048400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr11:66046400-66049200	Weak transcription	Right Ventricle	heart
27	chr11:66046400-66049400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr11:66046400-66049600	Weak transcription	Placenta	Placenta
29	chr11:66046400-66049600	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr11:66046400-66049600	Weak transcription	Dnd41	blood
31	chr11:66046400-66049800	Flanking Active TSS	Brain Germinal Matrix	brain
32	chr11:66046400-66050000	Weak transcription	Ovary	ovary
33	chr11:66046400-66050200	Enhancers	Fetal Muscle Leg	muscle
34	chr11:66046600-66049200	Weak transcription	Primary B cells from cord blood	blood
35	chr11:66046600-66049400	Weak transcription	Primary T cells from cord blood	blood
36	chr11:66046600-66052800	Weak transcription	Right Atrium	heart
37	chr11:66046800-66049200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr11:66046800-66049200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr11:66046800-66049200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr11:66046800-66049200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr11:66046800-66049200	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr11:66046800-66049200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr11:66046800-66049400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr11:66046800-66049400	Weak transcription	Brain Substantia Nigra	brain
45	chr11:66046800-66049600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr11:66046800-66050200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr11:66046800-66050800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr11:66046800-66051000	Enhancers	Fetal Thymus	thymus
49	chr11:66047000-66049000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr11:66047000-66049000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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