Variant report

Variant	rs1110708
Chromosome Location	chr11:66360584-66360585
allele	A/C
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	POLR2A	chr11:66360326-66361036	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr11:66360344-66360935	U87	brain:	n/a	n/a
3	BCL3	chr11:66359837-66361043	A549	lung:	n/a	n/a
4	TAL1	chr11:66360195-66360804	K562	blood:	n/a	n/a
5	PAX5	chr11:66360282-66360860	GM12878	blood:	n/a	chr11:66360570-66360579 chr11:66360511-66360520
6	MAZ	chr11:66360269-66360932	GM12878	blood:	n/a	n/a
7	CTCF	chr11:66360017-66360716	H1-hESC	embryonic stem cell:	n/a	chr11:66360576-66360589 chr11:66360579-66360592 chr11:66360569-66360590 chr11:66360576-66360589 chr11:66360574-66360592
8	POLR2A	chr11:66360396-66360923	GM18526	blood:	n/a	n/a
9	POLR2A	chr11:66360438-66360947	NB4	blood:	n/a	n/a
10	YY1	chr11:66360251-66360876	GM12892	blood:	n/a	chr11:66360568-66360579
11	MAX	chr11:66359821-66361020	H1-hESC	embryonic stem cell:	n/a	n/a
12	CHD2	chr11:66360300-66360725	K562	blood:	n/a	n/a
13	CTCF	chr11:66359895-66361040	A549	lung:	n/a	chr11:66360576-66360589 chr11:66360579-66360592 chr11:66360569-66360590 chr11:66360576-66360589 chr11:66360574-66360592
14	POLR2A	chr11:66360317-66361094	GM12892	blood:	n/a	n/a
15	POLR2A	chr11:66360523-66360918	GM12891	blood:	n/a	n/a
16	EP300	chr11:66360189-66360726	K562	blood:	n/a	chr11:66360492-66360501
17	POLR2A	chr11:66360208-66360960	A549	lung:	n/a	n/a
18	HEY1	chr11:66360408-66360887	K562	blood:	n/a	chr11:66360567-66360582
19	MAFK	chr11:66360082-66360747	Hela-S3	cervix:	n/a	n/a
20	GTF2F1	chr11:66360193-66360896	Hela-S3	cervix:	n/a	n/a
21	CTCF	chr11:66360189-66360601	A549	lung:	n/a	chr11:66360576-66360589 chr11:66360579-66360592 chr11:66360569-66360590 chr11:66360576-66360589 chr11:66360574-66360592
22	MAX	chr11:66360104-66360881	A549	lung:	n/a	n/a
23	TAF1	chr11:66360526-66360793	GM12892	blood:	n/a	n/a
24	CTCF	chr11:66360109-66360642	HepG2	liver:	n/a	chr11:66360576-66360589 chr11:66360579-66360592 chr11:66360569-66360590 chr11:66360576-66360589 chr11:66360574-66360592
25	MYC	chr11:66360524-66360805	MCF10A-Er-Src	breast:	n/a	n/a
26	MAX	chr11:66360118-66360924	SK-N-SH	brain:	n/a	n/a
27	CTCF	chr11:66360118-66360624	H1-hESC	embryonic stem cell:	n/a	chr11:66360576-66360589 chr11:66360579-66360592 chr11:66360569-66360590 chr11:66360576-66360589 chr11:66360574-66360592
28	JUND	chr11:66360144-66360983	K562	blood:	n/a	n/a
29	RAD21	chr11:66360147-66360594	H1-hESC	embryonic stem cell:	n/a	chr11:66360572-66360591 chr11:66360575-66360588 chr11:66360576-66360590
30	POLR2A	chr11:66360516-66360843	GM12891	blood:	n/a	n/a
31	USF2	chr11:66360139-66360797	GM12878	blood:	n/a	n/a
32	POLR2A	chr11:66360124-66360906	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr11:66360429-66360899	MCF10A-Er-Src	breast:	n/a	n/a
34	HEY1	chr11:66359959-66360903	HepG2	liver:	n/a	chr11:66360567-66360582
35	POLR2A	chr11:66360401-66360917	SK-N-MC	brain:	n/a	n/a
36	CTCF	chr11:66360099-66360650	K562	blood:	n/a	chr11:66360576-66360589 chr11:66360579-66360592 chr11:66360569-66360590 chr11:66360576-66360589 chr11:66360574-66360592
37	TAF1	chr11:66360522-66360858	Hela-S3	cervix:	n/a	n/a
38	CTCF	chr11:66360013-66360676	MCF-7	breast:	n/a	chr11:66360576-66360589 chr11:66360579-66360592 chr11:66360569-66360590 chr11:66360576-66360589 chr11:66360574-66360592
39	MAX	chr11:66359738-66361329	HepG2	liver:	n/a	n/a
40	MAX	chr11:66359938-66361024	K562	blood:	n/a	n/a
41	RAD21	chr11:66360134-66360730	Hela-S3	cervix:	n/a	chr11:66360572-66360591 chr11:66360575-66360588 chr11:66360576-66360590
42	TCF3	chr11:66360101-66360705	GM12878	blood:	n/a	n/a
43	FOS	chr11:66360422-66360719	MCF10A-Er-Src	breast:	n/a	n/a
44	ZNF143	chr11:66360165-66360838	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr11:66360506-66360881	K562	blood:	n/a	n/a
46	POLR2A	chr11:66360387-66360987	GM12892	blood:	n/a	n/a
47	YY1	chr11:66360239-66360786	SK-N-SH_RA	brain:	n/a	chr11:66360568-66360579
48	MXI1	chr11:66360277-66360694	K562	blood:	n/a	chr11:66360529-66360544 chr11:66360527-66360542
49	NRF1	chr11:66360370-66360950	GM12878	blood:	n/a	chr11:66360563-66360577 chr11:66360563-66360574 chr11:66360563-66360574 chr11:66360565-66360574 chr11:66360560-66360574
50	POLR2A	chr11:66360296-66361029	GM12892	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:66360559-66360609	NHDF-neo	bronchial:	n/a
2	chr11:66360551-66360601	PrEC	prostate:	n/a
3	chr11:66360559-66360609	HRE	kidney:	n/a
4	chr11:66360551-66360601	Jurkat	blood:	n/a
5	chr11:66360551-66360601	BE2_C	brain:	n/a
6	chr11:66360551-66360601	HCT-116	colon:	n/a
7	chr11:66360551-66360601	ProgFib	skin:	n/a
8	chr11:66360559-66360609	ECC-1	luminal epithelium:	n/a
9	chr11:66360554-66360604	U87	brain:	n/a
10	chr11:66360551-66360601	AG09319	gingival:	n/a
11	chr11:66360554-66360604	MCF10A-Er-Src	breast:	n/a
12	chr11:66360559-66360609	IMR90	lung:	fetal
13	chr11:66360551-66360601	ECC-1	luminal epithelium:	n/a
14	chr11:66360559-66360609	NT2-D1	testis:	n/a
15	chr11:66360554-66360604	AG09319	gingival:	n/a
16	chr11:66360551-66360601	HAEpiC	amniotic membrane:	n/a
17	chr11:66360554-66360604	Hepatocyte	liver:	n/a
18	chr11:66360554-66360604	HEK293	kidney:	embryo
19	chr11:66360554-66360604	SK-N-SH	brain:	n/a
20	chr11:66360559-66360609	BJ	skin:	n/a
21	chr11:66360559-66360609	NHBE	bronchial:	n/a
22	chr11:66360559-66360609	SKMC	muscle:	n/a
23	chr11:66360559-66360609	PrEC	prostate:	n/a
24	chr11:66360559-66360609	SK-N-MC	brain:	n/a
25	chr11:66360554-66360604	PrEC	prostate:	n/a
26	chr11:66360559-66360609	Hepatocyte	liver:	n/a
27	chr11:66360559-66360609	HPAEpiC	pulmonary alveolar:	n/a
28	chr11:66360554-66360604	BJ	skin:	n/a
29	chr11:66360551-66360601	Hepatocyte	liver:	n/a
30	chr11:66360551-66360601	HEEpiC	esophagus:	n/a
31	chr11:66360551-66360601	H1-hESC	embryonic stem cell:	embryo
32	chr11:66360554-66360604	AG10803	skin:	n/a
33	chr11:66360559-66360609	HMEC	breast:	n/a
34	chr11:66360554-66360604	HEEpiC	esophagus:	n/a
35	chr11:66360551-66360601	Caco-2	colon:	n/a
36	chr11:66360551-66360601	AG09309	skin:	n/a
37	chr11:66360559-66360609	GM12892	blood:	n/a
38	chr11:66360551-66360601	HCPEpiC	choroid plexus:	n/a
39	chr11:66360559-66360609	HEK293	kidney:	embryo
40	chr11:66360551-66360601	PFSK-1	brain:	n/a
41	chr11:66360559-66360609	RPTEC	kidney:	n/a
42	chr11:66360554-66360604	H1-hESC	embryonic stem cell:	embryo
43	chr11:66360551-66360601	AoSMC	blood vessel:	n/a
44	chr11:66360551-66360601	SKMC	muscle:	n/a
45	chr11:66360559-66360609	ProgFib	skin:	n/a
46	chr11:66360551-66360601	MCF-7	breast:	n/a
47	chr11:66360559-66360609	GM19239	blood:	n/a
48	chr11:66360559-66360609	MCF10A-Er-Src	breast:	n/a
49	chr11:66360559-66360609	H1-hESC	embryonic stem cell:	embryo
50	chr11:66360551-66360601	U87	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:66358389..66364594-chr11:66381544..66387255,17	MCF-7	breast:
2	chr11:66358904..66365230-chr11:66381918..66386995,13	MCF-7	breast:
3	chr11:66358667..66365231-chr11:66403397..66409781,9	K562	blood:
4	chr11:66246639..66249369-chr11:66359117..66362318,3	K562	blood:
5	chr11:66358156..66362242-chr11:66381316..66386003,12	K562	blood:
6	chr11:66358590..66362001-chr11:66403964..66407353,7	K562	blood:
7	chr11:66358617..66363403-chr11:66366526..66370072,6	MCF-7	breast:
8	chr11:66358981..66362373-chr11:66404226..66407674,4	MCF-7	breast:
9	chr11:66359034..66362205-chr11:66443812..66446064,4	K562	blood:
10	chr11:66356377..66365681-chr11:66380910..66388291,23	K562	blood:
11	chr11:66358934..66362689-chr11:66443837..66446822,4	MCF-7	breast:
12	chr11:66360307..66360987-chr16:77224555..77225280,2	Hela-S3	cervix:
13	chr11:66358890..66361865-chr11:66443170..66446382,5	MCF-7	breast:
14	chr11:66359100..66362030-chr11:66410547..66413461,2	MCF-7	breast:

Variant related genes	Relation type
CCDC87	TF binding region
CCS	TF binding region
CCS	CpG island
CCDC87	CpG island
ENSG00000173933	Chromatin interaction
ENSG00000254986	Chromatin interaction
ENSG00000239306	Chromatin interaction
ENSG00000199325	Chromatin interaction
ENSG00000103111	Chromatin interaction
ENSG00000255517	Chromatin interaction
ENSG00000173914	Chromatin interaction
ENSG00000248643	Chromatin interaction
ENSG00000173992	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11227555	1.00[TSI][hapmap]
rs470300	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs615536	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs664297	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv897780	chr11:66083129-66362997	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
3	nsv522277	chr11:66234023-66493825	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66359400-66360600	Enhancers	Fetal Heart	heart
2	chr11:66359400-66361400	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:66359600-66361000	Active TSS	H9 Cell Line	embryonic stem cell
4	chr11:66359600-66361000	Active TSS	Rectal Smooth Muscle	rectum
5	chr11:66359800-66360800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr11:66359800-66360800	Active TSS	Brain Angular Gyrus	brain
7	chr11:66359800-66360800	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr11:66359800-66360800	Active TSS	HSMMtube	muscle
9	chr11:66359800-66361000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr11:66359800-66361000	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr11:66359800-66361200	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr11:66359800-66361200	Active TSS	Colon Smooth Muscle	Colon
13	chr11:66359800-66361400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr11:66359800-66361600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
15	chr11:66359800-66361600	Flanking Active TSS	Dnd41	blood
16	chr11:66359800-66363400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr11:66360000-66360600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr11:66360000-66360800	Active TSS	Brain Germinal Matrix	brain
19	chr11:66360000-66360800	Active TSS	Osteobl	bone
20	chr11:66360000-66361000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:66360000-66361000	Active TSS	Primary T cells from cord blood	blood
22	chr11:66360000-66361000	Active TSS	Fetal Kidney	kidney
23	chr11:66360000-66361200	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr11:66360000-66361400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr11:66360000-66361400	Active TSS	HUES64 Cell Line	embryonic stem cell
26	chr11:66360000-66361400	Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr11:66360000-66361400	Flanking Active TSS	Placenta	Placenta
28	chr11:66360000-66361400	Active TSS	Psoas Muscle	Psoas
29	chr11:66360000-66361400	Flanking Active TSS	HMEC	breast
30	chr11:66360000-66361600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr11:66360000-66361600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr11:66360000-66361600	Active TSS	Fetal Brain Female	brain
33	chr11:66360000-66361600	Active TSS	HSMM	muscle
34	chr11:66360000-66361600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr11:66360200-66360600	Active TSS	Fetal Lung	lung
36	chr11:66360200-66360800	Active TSS	H1 Cell Line	embryonic stem cell
37	chr11:66360200-66360800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr11:66360200-66360800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr11:66360200-66360800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr11:66360200-66360800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
41	chr11:66360200-66360800	Active TSS	Muscle Satellite Cultured Cells	--
42	chr11:66360200-66360800	Active TSS	Brain Anterior Caudate	brain
43	chr11:66360200-66360800	Active TSS	Gastric	stomach
44	chr11:66360200-66360800	Active TSS	Left Ventricle	heart
45	chr11:66360200-66360800	Active TSS	Stomach Mucosa	stomach
46	chr11:66360200-66360800	Active TSS	Hela-S3	cervix
47	chr11:66360200-66360800	Active TSS	HepG2	liver
48	chr11:66360200-66361000	Active TSS	HUES6 Cell Line	embryonic stem cell
49	chr11:66360200-66361000	Active TSS	iPS-15b Cell Line	embryonic stem cell
50	chr11:66360200-66361000	Active TSS	iPS-18 Cell Line	embryonic stem cell

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