Variant report

Variant	rs11823875
Chromosome Location	chr11:74451102-74451103
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	RAD21	chr11:74450734-74451210	MCF-7	breast:	n/a	chr11:74450993-74451003 chr11:74450989-74451008
2	CTCF	chr11:74450748-74451226	T-47D	breast:	n/a	chr11:74450992-74451008 chr11:74450994-74451004 chr11:74450991-74451009 chr11:74450986-74451007 chr11:74450997-74451006
3	CTCF	chr11:74450893-74451135	GM19239	blood:	n/a	chr11:74450992-74451008 chr11:74450994-74451004 chr11:74450991-74451009 chr11:74450986-74451007 chr11:74450997-74451006
4	RAD21	chr11:74450806-74451138	GM12878	blood:	n/a	chr11:74450993-74451003 chr11:74450989-74451008
5	HCFC1	chr11:74450849-74451231	K562	blood:	n/a	n/a
6	CTCF	chr11:74450743-74451217	HepG2	liver:	n/a	chr11:74450991-74451009 chr11:74450986-74451007 chr11:74450997-74451006 chr11:74450992-74451008 chr11:74450994-74451004
7	CTCF	chr11:74450879-74451153	GM12892	blood:	n/a	chr11:74450992-74451008 chr11:74450994-74451004 chr11:74450991-74451009 chr11:74450986-74451007 chr11:74450997-74451006
8	CTCF	chr11:74450869-74451164	HUVEC	blood vessel:	n/a	chr11:74450992-74451008 chr11:74450994-74451004 chr11:74450991-74451009 chr11:74450986-74451007 chr11:74450997-74451006
9	CEBPB	chr11:74450875-74451246	HepG2	liver:	n/a	n/a
10	STAT3	chr11:74450923-74451139	MCF10A-Er-Src	breast:	n/a	n/a
11	CTCF	chr11:74450892-74451137	MCF-7	breast:	n/a	chr11:74450992-74451008 chr11:74450994-74451004 chr11:74450991-74451009 chr11:74450986-74451007 chr11:74450997-74451006
12	FOXM1	chr11:74450789-74451174	GM12878	blood:	n/a	n/a
13	STAT1	chr11:74450845-74451166	GM12878	blood:	n/a	n/a
14	CTCF	chr11:74450960-74451110	SAEC	small airway:	n/a	chr11:74450992-74451008 chr11:74450994-74451004 chr11:74450991-74451009 chr11:74450986-74451007 chr11:74450997-74451006
15	TFAP2A	chr11:74450708-74451400	Hela-S3	cervix:	n/a	n/a
16	FOXA1	chr11:74450794-74451323	HepG2	liver:	n/a	n/a
17	CTCF	chr11:74450637-74451269	HCT-116	colon:	n/a	chr11:74450992-74451008 chr11:74450994-74451004 chr11:74450991-74451009 chr11:74450986-74451007 chr11:74450997-74451006
18	SMC3	chr11:74450807-74451229	Hela-S3	cervix:	n/a	chr11:74450999-74451007 chr11:74450993-74451007
19	CTCF	chr11:74450790-74451126	ECC-1	luminal epithelium:	n/a	chr11:74450992-74451008 chr11:74450994-74451004 chr11:74450991-74451009 chr11:74450986-74451007 chr11:74450997-74451006
20	CEBPB	chr11:74450883-74451254	A549	lung:	n/a	n/a
21	RAD21	chr11:74450841-74451108	K562	blood:	n/a	chr11:74450993-74451003 chr11:74450989-74451008
22	CTCF	chr11:74450905-74451127	H1-hESC	embryonic stem cell:	n/a	chr11:74450992-74451008 chr11:74450994-74451004 chr11:74450991-74451009 chr11:74450986-74451007 chr11:74450997-74451006
23	FOXA1	chr11:74450907-74451283	HepG2	liver:	n/a	n/a
24	CEBPB	chr11:74450888-74451247	IMR90	lung:	n/a	n/a
25	CTCF	chr11:74450897-74451143	Fibrobl	skin:	n/a	chr11:74450992-74451008 chr11:74450994-74451004 chr11:74450991-74451009 chr11:74450986-74451007 chr11:74450997-74451006
26	CTCF	chr11:74450980-74451130	HCT-116	colon:	n/a	chr11:74450992-74451008 chr11:74450994-74451004 chr11:74450991-74451009 chr11:74450986-74451007 chr11:74450997-74451006
27	FOXA2	chr11:74450846-74451375	A549	lung:	n/a	n/a
28	CEBPB	chr11:74450854-74451236	Hela-S3	cervix:	n/a	n/a
29	CEBPB	chr11:74450862-74451177	MCF-7	breast:	n/a	n/a
30	RCOR1	chr11:74450863-74451177	K562	blood:	n/a	n/a
31	SMC3	chr11:74450817-74451171	GM12878	blood:	n/a	chr11:74450999-74451007 chr11:74450993-74451007
32	CTCF	chr11:74450866-74451154	Lung_OC	lung:	n/a	chr11:74450992-74451008 chr11:74450994-74451004 chr11:74450991-74451009 chr11:74450986-74451007 chr11:74450997-74451006
33	CTCF	chr11:74450871-74451171	GM12878	blood:	n/a	chr11:74450992-74451008 chr11:74450994-74451004 chr11:74450991-74451009 chr11:74450986-74451007 chr11:74450997-74451006
34	CTCF	chr11:74450873-74451139	GM13977	blood:	n/a	chr11:74450992-74451008 chr11:74450994-74451004 chr11:74450991-74451009 chr11:74450986-74451007 chr11:74450997-74451006
35	CTCF	chr11:74450844-74451174	A549	lung:	n/a	chr11:74450992-74451008 chr11:74450994-74451004 chr11:74450991-74451009 chr11:74450986-74451007 chr11:74450997-74451006
36	CTCF	chr11:74450960-74451110	HA-sp	spinal cord:	n/a	chr11:74450992-74451008 chr11:74450994-74451004 chr11:74450991-74451009 chr11:74450986-74451007 chr11:74450997-74451006
37	RCOR1	chr11:74450909-74451196	HepG2	liver:	n/a	n/a
38	CTCF	chr11:74450883-74451141	GM10266	blood:	n/a	chr11:74450992-74451008 chr11:74450994-74451004 chr11:74450991-74451009 chr11:74450986-74451007 chr11:74450997-74451006
39	TEAD4	chr11:74450919-74451259	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr11:74450823-74451173	T-47D	breast:	n/a	chr11:74450992-74451008 chr11:74450994-74451004 chr11:74450991-74451009 chr11:74450986-74451007 chr11:74450997-74451006
41	YY1	chr11:74450907-74451108	K562	blood:	n/a	n/a
42	CTCF	chr11:74450704-74451274	HCT-116	colon:	n/a	chr11:74450992-74451008 chr11:74450994-74451004 chr11:74450991-74451009 chr11:74450986-74451007 chr11:74450997-74451006
43	CTCF	chr11:74450888-74451141	GM12891	blood:	n/a	chr11:74450992-74451008 chr11:74450994-74451004 chr11:74450991-74451009 chr11:74450986-74451007 chr11:74450997-74451006
44	CTCF	chr11:74450960-74451110	HCM	heart:	n/a	chr11:74450992-74451008 chr11:74450994-74451004 chr11:74450991-74451009 chr11:74450986-74451007 chr11:74450997-74451006
45	CTCF	chr11:74450832-74451153	HepG2	liver:	n/a	chr11:74450992-74451008 chr11:74450994-74451004 chr11:74450991-74451009 chr11:74450986-74451007 chr11:74450997-74451006
46	RAD21	chr11:74450819-74451208	A549	lung:	n/a	chr11:74450993-74451003 chr11:74450989-74451008
47	CTCF	chr11:74450901-74451116	GM13976	blood:	n/a	chr11:74450992-74451008 chr11:74450994-74451004 chr11:74450991-74451009 chr11:74450986-74451007 chr11:74450997-74451006
48	FOXP2	chr11:74450918-74451175	PFSK-1	brain:	n/a	n/a
49	CTCF	chr11:74450960-74451110	NHEK	skin:	n/a	chr11:74450992-74451008 chr11:74450994-74451004 chr11:74450991-74451009 chr11:74450986-74451007 chr11:74450997-74451006
50	RAD21	chr11:74450814-74451165	GM12878	blood:	n/a	chr11:74450993-74451003 chr11:74450989-74451008

No.	Distal block	Cell Line	Cell type
1	chr11:74437173..74438219-chr11:74450761..74451489,4	MCF-7	breast:
2	chr11:74450311..74452695-chr11:74458659..74461302,2	K562	blood:
3	chr11:74322119..74322781-chr11:74450756..74451427,2	K562	blood:
4	chr11:74450962..74453851-chr11:74455594..74457970,3	MCF-7	breast:
5	chr11:74345782..74346309-chr11:74450577..74451426,2	MCF-7	breast:
6	chr11:74449856..74451588-chr11:74552706..74555219,2	K562	blood:

Variant related genes	Relation type
ENSG00000241097	TF binding region
ENSG00000166439	Chromatin interaction
ENSG00000227615	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11821589	1.00[ASW][hapmap];1.00[GIH][hapmap];0.85[MKK][hapmap];0.83[YRI][hapmap]
rs11825000	0.83[YRI][hapmap]
rs17133490	1.00[GIH][hapmap]
rs7104291	1.00[ASW][hapmap];1.00[GIH][hapmap];0.83[YRI][hapmap]
rs7108948	0.90[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7125952	0.89[YRI][hapmap]
rs7924642	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7932031	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7932053	0.93[AFR][1000 genomes]
rs7932182	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7945185	1.00[ASW][hapmap];1.00[GIH][hapmap];0.83[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757451	chr11:73842609-74545888	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	esv2759837	chr11:73842609-74557597	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	esv34979	chr11:73878688-74533452	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	esv2758277	chr11:73887567-74557597	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
5	nsv825994	chr11:73936667-74534455	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
6	nsv932190	chr11:74359867-74618935	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74445600-74459000	Weak transcription	A549	lung
2	chr11:74450600-74451200	Enhancers	Rectal Mucosa Donor 29	rectum
3	chr11:74450800-74451200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr11:74450800-74451200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr11:74450800-74451200	Active TSS	Brain Substantia Nigra	brain
6	chr11:74450800-74451400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr11:74450800-74451400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr11:74450800-74451400	Enhancers	Brain Hippocampus Middle	brain
9	chr11:74451000-74451200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
10	chr11:74451000-74451200	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr11:74451000-74451200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr11:74451000-74451200	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr11:74451000-74451200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr11:74451000-74451200	Enhancers	Brain Angular Gyrus	brain
15	chr11:74451000-74451200	Enhancers	Brain Anterior Caudate	brain
16	chr11:74451000-74451200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr11:74451000-74451200	Enhancers	Ovary	ovary
18	chr11:74451000-74451200	Enhancers	Rectal Smooth Muscle	rectum
19	chr11:74451000-74451200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
20	chr11:74451000-74451400	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr11:74451000-74451400	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr11:74451000-74451400	Enhancers	Colon Smooth Muscle	Colon

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