Variant report

Variant	rs11605500
Chromosome Location	chr11:63669411-63669412
allele	A/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	chr11:63669216-63669433	MCF-7	breast:	n/a	chr11:63669309-63669327 chr11:63669315-63669324
2	CTCF	chr11:63669280-63669430	NHLF	lung:	n/a	chr11:63669309-63669327 chr11:63669315-63669324
3	CTCF	chr11:63669280-63669430	HEK293	kidney:	n/a	chr11:63669309-63669327 chr11:63669315-63669324
4	CTCF	chr11:63669257-63669425	LNCaP	prostate:	n/a	chr11:63669309-63669327 chr11:63669315-63669324
5	RAD21	chr11:63669202-63669481	Hela-S3	cervix:	n/a	n/a
6	CTCF	chr11:63669114-63669512	MCF-7	breast:	n/a	chr11:63669309-63669327 chr11:63669315-63669324
7	CTCF	chr11:63669300-63669450	GM12870	blood:	n/a	chr11:63669309-63669327 chr11:63669315-63669324
8	RAD21	chr11:63669104-63669463	A549	lung:	n/a	n/a
9	RAD21	chr11:63669100-63669577	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr11:63669387-63669442	Hela-S3	cervix:	n/a	n/a
11	CTCF	chr11:63669220-63669432	MCF-7	breast:	n/a	chr11:63669309-63669327 chr11:63669315-63669324
12	CTCF	chr11:63669177-63669478	A549	lung:	n/a	chr11:63669309-63669327 chr11:63669315-63669324
13	CTCF	chr11:63669380-63669530	HCM	heart:	n/a	chr11:63669514-63669523
14	CTCF	chr11:63669236-63669414	GM12891	blood:	n/a	chr11:63669309-63669327 chr11:63669315-63669324
15	CTCF	chr11:63669300-63669450	HepG2	liver:	n/a	chr11:63669309-63669327 chr11:63669315-63669324
16	SMC3	chr11:63669124-63669658	SK-N-SH	brain:	n/a	chr11:63669311-63669325
17	CTCF	chr11:63669280-63669430	WI-38	lung:	n/a	chr11:63669309-63669327 chr11:63669315-63669324
18	SMC3	chr11:63669165-63669495	Hela-S3	cervix:	n/a	chr11:63669311-63669325
19	CTCF	chr11:63669232-63669413	HUVEC	blood vessel:	n/a	chr11:63669309-63669327 chr11:63669315-63669324
20	CTCF	chr11:63669280-63669430	HA-sp	spinal cord:	n/a	chr11:63669309-63669327 chr11:63669315-63669324
21	RAD21	chr11:63669139-63669425	SK-N-SH_RA	brain:	n/a	n/a
22	RAD21	chr11:63669106-63669475	HepG2	liver:	n/a	n/a
23	RAD21	chr11:63669174-63669532	H1-hESC	embryonic stem cell:	n/a	n/a
24	RAD21	chr11:63669137-63669493	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr11:63669244-63669428	GM12892	blood:	n/a	chr11:63669309-63669327 chr11:63669315-63669324
26	RAD21	chr11:63669163-63669464	A549	lung:	n/a	n/a
27	CTCF	chr11:63669226-63669424	MCF-7	breast:	n/a	chr11:63669309-63669327 chr11:63669315-63669324
28	CTCF	chr11:63669215-63669478	A549	lung:	n/a	chr11:63669309-63669327 chr11:63669315-63669324
29	RAD21	chr11:63669114-63669466	HepG2	liver:	n/a	n/a
30	CTCF	chr11:63669280-63669430	HUVEC	blood vessel:	n/a	chr11:63669309-63669327 chr11:63669315-63669324
31	POLR2A	chr11:63669336-63669507	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr11:63669152-63669445	T-47D	breast:	n/a	chr11:63669309-63669327 chr11:63669315-63669324
33	CTCF	chr11:63669120-63669473	HepG2	liver:	n/a	chr11:63669309-63669327 chr11:63669315-63669324
34	CTCF	chr11:63669300-63669450	HBMEC	blood vessel:	n/a	chr11:63669309-63669327 chr11:63669315-63669324
35	RAD21	chr11:63669094-63669584	HCT-116	colon:	n/a	n/a
36	CTCF	chr11:63669184-63669416	H1-hESC	embryonic stem cell:	n/a	chr11:63669309-63669327 chr11:63669315-63669324
37	CTCF	chr11:63669233-63669430	K562	blood:	n/a	chr11:63669309-63669327 chr11:63669315-63669324
38	CTCF	chr11:63669039-63669671	A549	lung:	n/a	chr11:63669514-63669523 chr11:63669309-63669327 chr11:63669315-63669324
39	CTCF	chr11:63669280-63669430	A549	lung:	n/a	chr11:63669309-63669327 chr11:63669315-63669324
40	CTCF	chr11:63669191-63669460	MCF-7	breast:	n/a	chr11:63669309-63669327 chr11:63669315-63669324
41	CTCF	chr11:63669226-63669445	Gliobla	brain:	n/a	chr11:63669309-63669327 chr11:63669315-63669324
42	CTCF	chr11:63669163-63669509	GM12878	blood:	n/a	chr11:63669309-63669327 chr11:63669315-63669324
43	CTCF	chr11:63669400-63669550	HAc	cerebellar:	n/a	chr11:63669514-63669523
44	CTCF	chr11:63669007-63669630	SK-N-SH	brain:	n/a	chr11:63669514-63669523 chr11:63669309-63669327 chr11:63669315-63669324
45	SMC3	chr11:63669177-63669452	GM12878	blood:	n/a	chr11:63669311-63669325
46	CTCF	chr11:63669280-63669430	GM12878	blood:	n/a	chr11:63669309-63669327 chr11:63669315-63669324
47	CTCF	chr11:63669224-63669436	H1-hESC	embryonic stem cell:	n/a	chr11:63669309-63669327 chr11:63669315-63669324
48	POLR2A	chr11:63669310-63669472	Hela-S3	cervix:	n/a	n/a
49	RAD21	chr11:63669127-63669442	SK-N-SH_RA	brain:	n/a	n/a
50	CTCF	chr11:63669340-63669490	HCT-116	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:63661829..63663997-chr11:63667272..63670174,2	MCF-7	breast:
2	chr11:63664374..63669809-chr11:63669959..63673473,6	K562	blood:
3	chr11:63663375..63669809-chr11:63669959..63673473,8	K562	blood:
4	chr11:63639701..63640231-chr11:63668965..63669635,2	MCF-7	breast:
5	chr11:63535456..63536319-chr11:63668924..63669771,3	MCF-7	breast:
6	chr11:63604402..63604903-chr11:63668916..63669779,2	K562	blood:
7	chr11:63668921..63671351-chr11:63684196..63686382,2	K562	blood:
8	chr11:63534918..63536804-chr11:63668712..63670378,2	MCF-7	breast:
9	chr11:63636556..63639041-chr11:63667851..63671875,3	MCF-7	breast:
10	chr11:63666544..63671236-chr11:63682476..63685803,4	MCF-7	breast:
11	chr11:63663638..63665714-chr11:63667617..63669510,2	K562	blood:
12	chr11:63603311..63612666-chr11:63664740..63679491,25	MCF-7	breast:
13	chr11:63604037..63605385-chr11:63668805..63669828,8	MCF-7	breast:
14	chr11:63580161..63582030-chr11:63668287..63670430,2	MCF-7	breast:
15	chr11:63663638..63666472-chr11:63667617..63669510,3	K562	blood:

Variant related genes	Relation type
MARK2	TF binding region
ENSG00000167771	Chromatin interaction
ENSG00000168005	Chromatin interaction
ENSG00000255651	Chromatin interaction
ENSG00000072518	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10736731	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10751001	0.85[ASN][1000 genomes]
rs10792421	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10792422	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10792423	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10897452	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10897453	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10897454	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11231600	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11231606	0.83[EUR][1000 genomes]
rs11231624	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11231628	0.90[ASN][1000 genomes]
rs11231637	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11231640	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12277481	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12576275	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1486936	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1872772	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2840079	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs320109	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3802941	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3850943	0.85[ASN][1000 genomes]
rs4143327	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4963433	0.85[ASN][1000 genomes]
rs4980503	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4980505	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4980507	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4980528	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4980529	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4980532	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4980533	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61604723	0.81[EUR][1000 genomes]
rs6421686	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6591825	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7102006	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7105288	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7108375	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7110843	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7118913	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7121067	0.91[EUR][1000 genomes]
rs7937314	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7939351	0.80[EUR][1000 genomes]
rs7939416	0.80[ASN][1000 genomes]
rs7944519	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7948656	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs923247	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs928948	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv468589	chr11:63515752-63713239	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv555180	chr11:63515752-63713239	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	esv1839119	chr11:63615554-63680052	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv468590	chr11:63639881-63783352	Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv555181	chr11:63639881-63783352	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
7	nsv897629	chr11:63664882-63866959	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
8	nsv897630	chr11:63664882-63924446	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
9	nsv897631	chr11:63664882-64129722	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	254 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63657000-63670000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr11:63657400-63677800	Strong transcription	Dnd41	blood
3	chr11:63658800-63678400	Strong transcription	Primary B cells from cord blood	blood
4	chr11:63659400-63678600	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr11:63659600-63680600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr11:63659800-63678000	Strong transcription	Rectal Mucosa Donor 31	rectum
7	chr11:63659800-63682400	Strong transcription	Fetal Intestine Large	intestine
8	chr11:63660000-63674400	Strong transcription	Fetal Thymus	thymus
9	chr11:63660200-63673200	Strong transcription	Fetal Intestine Small	intestine
10	chr11:63660600-63674000	Strong transcription	Fetal Stomach	stomach
11	chr11:63660800-63669800	Strong transcription	Hela-S3	cervix
12	chr11:63660800-63670000	Strong transcription	Fetal Muscle Trunk	muscle
13	chr11:63660800-63672600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr11:63660800-63674400	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr11:63660800-63674400	Strong transcription	Fetal Lung	lung
16	chr11:63660800-63678000	Strong transcription	Primary B cells from peripheral blood	blood
17	chr11:63661000-63669800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr11:63661000-63673200	Strong transcription	Skeletal Muscle Female	skeletal muscle
19	chr11:63661000-63674000	Strong transcription	Stomach Smooth Muscle	stomach
20	chr11:63661000-63677800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr11:63661000-63678000	Strong transcription	Liver	Liver
22	chr11:63661200-63678600	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr11:63661400-63673600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr11:63661400-63675800	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr11:63661600-63677400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr11:63661600-63678000	Strong transcription	Thymus	Thymus
27	chr11:63661600-63678000	Strong transcription	NHEK	skin
28	chr11:63661800-63674000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr11:63662200-63669600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr11:63662200-63670000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr11:63662200-63670800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr11:63662200-63670800	Strong transcription	GM12878-XiMat	blood
33	chr11:63662200-63672200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr11:63662200-63672200	Strong transcription	HepG2	liver
35	chr11:63662200-63673000	Strong transcription	H1 Cell Line	embryonic stem cell
36	chr11:63662200-63673000	Strong transcription	Fetal Muscle Leg	muscle
37	chr11:63662200-63673800	Strong transcription	H9 Cell Line	embryonic stem cell
38	chr11:63662200-63674400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr11:63662200-63677400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr11:63662400-63672000	Strong transcription	Spleen	Spleen
41	chr11:63662400-63672600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr11:63662400-63672800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr11:63662400-63673000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr11:63662400-63673000	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr11:63662400-63673600	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr11:63662400-63674400	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr11:63662400-63674400	Strong transcription	Placenta	Placenta
48	chr11:63662400-63675400	Strong transcription	Rectal Smooth Muscle	rectum
49	chr11:63662400-63675600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr11:63662400-63675800	Strong transcription	NHLF	lung

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