Variant report

Variant	rs111778194
Chromosome Location	chr11:32851233-32851234
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	TAF1	chr11:32851081-32851308	GM12878	blood:	n/a	n/a
2	SMC3	chr11:32851051-32851383	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr11:32850696-32852143	GM19099	blood:	n/a	n/a
4	PAX5	chr11:32851107-32851341	GM12878	blood:	n/a	n/a
5	POLR2A	chr11:32851062-32851653	GM12878	blood:	n/a	n/a
6	POLR2A	chr11:32851060-32851753	ECC-1	luminal epithelium:	n/a	n/a
7	GTF2F1	chr11:32851000-32851266	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr11:32850987-32852288	NB4	blood:	n/a	n/a
9	TAF1	chr11:32851093-32851422	H1-hESC	embryonic stem cell:	n/a	n/a
10	TCF12	chr11:32850934-32851986	ECC-1	luminal epithelium:	n/a	chr11:32851205-32851212 chr11:32851440-32851447 chr11:32851688-32851698
11	POLR2A	chr11:32850937-32852271	MCF10A-Er-Src	breast:	n/a	n/a
12	MAX	chr11:32851082-32852341	MCF-7	breast:	n/a	n/a
13	CTCF	chr11:32851118-32851254	MCF-7	breast:	n/a	n/a
14	EBF1	chr11:32850751-32851437	GM12878	blood:	n/a	n/a
15	POLR2A	chr11:32851067-32851516	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr11:32850869-32852047	GM12892	blood:	n/a	n/a
17	BRCA1	chr11:32850715-32851268	Hela-S3	cervix:	n/a	n/a
18	MAX	chr11:32851057-32852177	ECC-1	luminal epithelium:	n/a	n/a
19	ZNF143	chr11:32850949-32851404	GM12878	blood:	n/a	chr11:32851365-32851383
20	RAD21	chr11:32851149-32851240	H1-hESC	embryonic stem cell:	n/a	n/a
21	NR3C1	chr11:32851152-32851366	ECC-1	luminal epithelium:	n/a	n/a
22	ZNF143	chr11:32851143-32851331	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr11:32851094-32851358	H1-hESC	embryonic stem cell:	n/a	n/a
24	CEBPB	chr11:32850788-32851520	Hela-S3	cervix:	n/a	n/a
25	ZEB1	chr11:32851051-32852294	HepG2	liver:	n/a	chr11:32851714-32851726 chr11:32851713-32851726
26	POLR2A	chr11:32850849-32852065	GM18505	blood:	n/a	n/a
27	POLR2A	chr11:32850985-32851936	MCF-7	breast:	n/a	n/a
28	MAZ	chr11:32851144-32852240	Hela-S3	cervix:	n/a	n/a
29	ELF1	chr11:32851045-32852022	GM12878	blood:	n/a	n/a
30	POLR2A	chr11:32851096-32851571	A549	lung:	n/a	n/a
31	EP300	chr11:32850888-32852111	ECC-1	luminal epithelium:	n/a	chr11:32851416-32851432 chr11:32851879-32851895 chr11:32851415-32851431
32	POLR2A	chr11:32850979-32851983	HCT-116	colon:	n/a	n/a
33	RFX5	chr11:32850686-32851448	Hela-S3	cervix:	n/a	n/a
34	TCF7L2	chr11:32851097-32852567	Hela-S3	cervix:	n/a	n/a
35	TAF1	chr11:32851076-32851348	Hela-S3	cervix:	n/a	n/a
36	YY1	chr11:32851085-32851506	GM12892	blood:	n/a	chr11:32851274-32851283 chr11:32851302-32851313
37	CTCF	chr11:32851076-32851314	GM12878	blood:	n/a	n/a
38	POLR2A	chr11:32850985-32852062	GM18526	blood:	n/a	n/a
39	YY1	chr11:32851151-32851714	ECC-1	luminal epithelium:	n/a	chr11:32851274-32851283 chr11:32851302-32851313
40	HA-E2F1	chr11:32851028-32852097	Hela-S3	cervix:	n/a	chr11:32851685-32851695 chr11:32851274-32851283 chr11:32851298-32851309
41	SMARCC1	chr11:32850821-32852332	Hela-S3	cervix:	n/a	chr11:32851976-32851985
42	ARID3A	chr11:32850824-32851272	HepG2	liver:	n/a	n/a
43	PML	chr11:32850828-32851540	GM12878	blood:	n/a	n/a
44	TAF1	chr11:32850955-32851577	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr11:32850917-32851454	GM12891	blood:	n/a	n/a
46	HA-E2F1	chr11:32850870-32852302	MCF-7	breast:	n/a	chr11:32851685-32851695 chr11:32851274-32851283 chr11:32851298-32851309
47	FOXM1	chr11:32850757-32851307	GM12878	blood:	n/a	n/a
48	TBP	chr11:32851093-32851907	H1-hESC	embryonic stem cell:	n/a	n/a
49	MAX	chr11:32851047-32852042	A549	lung:	n/a	n/a
50	TAF1	chr11:32851003-32851452	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:32851076..32851981-chr12:123011655..123012268,2	Hela-S3	cervix:
2	chr11:32850955..32851927-chr16:89752956..89753523,2	Hela-S3	cervix:
3	chr11:32849868..32852880-chr11:32911360..32916794,6	MCF-7	breast:
4	chr11:32850001..32854483-chr11:32912810..32915962,5	MCF-7	breast:
5	chr11:32850121..32852277-chr11:33088797..33091531,2	MCF-7	breast:

Variant related genes	Relation type
PRRG4	TF binding region
ENSG00000184445	Chromatin interaction
ENSG00000185324	Chromatin interaction
ENSG00000260259	Chromatin interaction
ENSG00000060749	Chromatin interaction
ENSG00000176148	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758262	chr11:32714643-33049940	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	esv2759815	chr11:32714643-33049940	Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
3	esv2757434	chr11:32792784-32958609	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	esv34742	chr11:32796092-33004024	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	esv2753057	chr11:32796124-33061724	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
6	esv2753743	chr11:32796124-33084924	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
7	nsv897190	chr11:32801921-32951836	Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
8	nsv897191	chr11:32805169-32903263	Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv897192	chr11:32828760-32903263	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv897193	chr11:32838288-32903263	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv825818	chr11:32849904-32852165	Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:32850400-32851800	Active TSS	HMEC	breast
2	chr11:32850600-32851600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr11:32850600-32852000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr11:32850600-32852000	Active TSS	NHEK	skin
5	chr11:32850600-32852200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
6	chr11:32850600-32852200	Active TSS	Hela-S3	cervix
7	chr11:32850600-32852400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
8	chr11:32850600-32852400	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr11:32850600-32852400	Flanking Active TSS	Primary hematopoietic stem cells	blood
10	chr11:32850600-32852400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr11:32850600-32852400	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr11:32850600-32852400	Active TSS	Rectal Smooth Muscle	rectum
13	chr11:32850600-32852800	Active TSS	Duodenum Mucosa	Duodenum
14	chr11:32850600-32853000	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr11:32850800-32851400	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
16	chr11:32850800-32851400	Active TSS	Primary T killer memory cells from peripheral blood	blood
17	chr11:32850800-32851400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr11:32850800-32851400	Active TSS	Aorta	Aorta
19	chr11:32850800-32851400	Active TSS	Right Atrium	heart
20	chr11:32850800-32851400	Bivalent/Poised TSS	HepG2	liver
21	chr11:32850800-32851600	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr11:32850800-32851600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr11:32850800-32851600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr11:32850800-32851600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr11:32850800-32851600	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
26	chr11:32850800-32851600	Active TSS	Placenta	Placenta
27	chr11:32850800-32851600	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
28	chr11:32850800-32851600	Active TSS	Stomach Smooth Muscle	stomach
29	chr11:32850800-32851600	Active TSS	NHLF	lung
30	chr11:32850800-32851800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
31	chr11:32850800-32851800	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
32	chr11:32850800-32851800	Active TSS	Brain Cingulate Gyrus	brain
33	chr11:32850800-32851800	Bivalent/Poised TSS	Fetal Lung	lung
34	chr11:32850800-32851800	Active TSS	Ovary	ovary
35	chr11:32850800-32851800	Active TSS	Placenta Amnion	Placenta Amnion
36	chr11:32850800-32851800	Flanking Bivalent TSS/Enh	Dnd41	blood
37	chr11:32850800-32851800	Bivalent/Poised TSS	HSMMtube	muscle
38	chr11:32850800-32851800	Bivalent/Poised TSS	Osteobl	bone
39	chr11:32850800-32852000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
40	chr11:32850800-32852000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr11:32850800-32852000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr11:32850800-32852000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
43	chr11:32850800-32852000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr11:32850800-32852000	Active TSS	Brain Substantia Nigra	brain
45	chr11:32850800-32852000	Active TSS	A549	lung
46	chr11:32850800-32852000	Active TSS	Monocytes-CD14+_RO01746	blood
47	chr11:32850800-32852200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
48	chr11:32850800-32852200	Active TSS	H9 Cell Line	embryonic stem cell
49	chr11:32850800-32852200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
50	chr11:32850800-32852200	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood

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