Variant report

Variant	rs569465741
Chromosome Location	chr11:75236858-75236859
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	POLR2A	chr11:75236844-75236928	GM12878	blood:	n/a	n/a
2	JUND	chr11:75236776-75237080	H1-hESC	embryonic stem cell:	n/a	n/a
3	RUNX3	chr11:75236738-75237245	GM12878	blood:	n/a	n/a
4	YY1	chr11:75236846-75237341	K562	blood:	n/a	chr11:75237235-75237245 chr11:75237019-75237030 chr11:75237014-75237028
5	ZBTB7A	chr11:75235995-75237680	ECC-1	luminal epithelium:	n/a	chr11:75236136-75236145
6	HCFC1	chr11:75236214-75237809	Hela-S3	cervix:	n/a	n/a
7	TAF1	chr11:75236465-75237526	HepG2	liver:	n/a	n/a
8	CTCF	chr11:75236849-75237142	GM12891	blood:	n/a	n/a
9	CEBPB	chr11:75236833-75237190	Hela-S3	cervix:	n/a	n/a
10	HMGN3	chr11:75236080-75237375	K562	blood:	n/a	n/a
11	MAX	chr11:75236775-75237199	HepG2	liver:	n/a	chr11:75237121-75237130
12	YY1	chr11:75236795-75237416	SK-N-SH_RA	brain:	n/a	chr11:75237235-75237245 chr11:75237019-75237030 chr11:75237014-75237028
13	ELF1	chr11:75236548-75237546	GM12878	blood:	n/a	n/a
14	CBX3	chr11:75236704-75237281	K562	blood:	n/a	n/a
15	MAX	chr11:75236730-75237410	A549	lung:	n/a	chr11:75237121-75237130 chr11:75237195-75237205
16	HEY1	chr11:75236752-75237352	K562	blood:	n/a	n/a
17	POLR2A	chr11:75236808-75237383	ProgFib	skin:	n/a	n/a
18	TAF1	chr11:75236767-75237277	PFSK-1	brain:	n/a	n/a
19	JUND	chr11:75236729-75237314	A549	lung:	n/a	n/a
20	TCF12	chr11:75236607-75237461	ECC-1	luminal epithelium:	n/a	chr11:75237217-75237224
21	SP1	chr11:75236769-75237370	H1-hESC	embryonic stem cell:	n/a	chr11:75237037-75237049 chr11:75237195-75237205 chr11:75237026-75237035 chr11:75237025-75237037 chr11:75237191-75237205 chr11:75237271-75237280 chr11:75237195-75237204 chr11:75237194-75237206 chr11:75237081-75237092 chr11:75237196-75237205 chr11:75237056-75237067 chr11:75237148-75237162 chr11:75237194-75237206 chr11:75237037-75237049
22	RCOR1	chr11:75236753-75237269	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr11:75236675-75237454	GM12892	blood:	n/a	n/a
24	POLR2A	chr11:75236712-75237422	K562	blood:	n/a	n/a
25	BCLAF1	chr11:75236853-75237238	GM12878	blood:	n/a	n/a
26	CTCF	chr11:75236854-75237114	Kidney_OC	kidney:	n/a	n/a
27	CTCF	chr11:75236828-75237192	IMR90	lung:	n/a	n/a
28	CTCF	chr11:75236845-75237164	MCF-7	breast:	n/a	n/a
29	E2F4	chr11:75236623-75237281	K562	blood:	n/a	n/a
30	POLR2A	chr11:75236768-75237295	HepG2	liver:	n/a	n/a
31	HA-E2F1	chr11:75236530-75237393	Hela-S3	cervix:	n/a	chr11:75236602-75236609
32	TBP	chr11:75236788-75237016	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr11:75236802-75237195	A549	lung:	n/a	n/a
34	POLR2A	chr11:75236713-75237450	GM19099	blood:	n/a	n/a
35	CTCF	chr11:75236814-75237244	HepG2	liver:	n/a	n/a
36	POLR2A	chr11:75236766-75237450	Hela-S3	cervix:	n/a	n/a
37	SIN3AK20	chr11:75236706-75237172	SK-N-SH	brain:	n/a	n/a
38	CTCF	chr11:75236836-75237214	GM19238	blood:	n/a	n/a
39	RAD21	chr11:75236821-75237162	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr11:75236855-75237166	HepG2	liver:	n/a	n/a
41	YY1	chr11:75236780-75237369	GM12878	blood:	n/a	chr11:75237235-75237245 chr11:75237019-75237030 chr11:75237014-75237028
42	ZNF143	chr11:75236811-75237163	Hela-S3	cervix:	n/a	n/a
43	SPI1	chr11:75236773-75237025	GM12891	blood:	n/a	n/a
44	POLR2A	chr11:75235488-75237551	H1-neurons	neurons:	n/a	n/a
45	CTCF	chr11:75236822-75237211	K562	blood:	n/a	n/a
46	NANOG	chr11:75236838-75237327	H1-hESC	embryonic stem cell:	n/a	n/a
47	YY1	chr11:75236763-75237482	ECC-1	luminal epithelium:	n/a	chr11:75237235-75237245 chr11:75237019-75237030 chr11:75237014-75237028
48	POLR2A	chr11:75236718-75237388	GM18505	blood:	n/a	n/a
49	ETS1	chr11:75236807-75237162	K562	blood:	n/a	n/a
50	HNF4G	chr11:75236829-75237158	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:75236692..75237261-chr16:28834106..28834824,2	Hela-S3	cervix:
2	chr11:75218923..75220446-chr11:75235371..75237646,2	K562	blood:
3	chr11:75108861..75111951-chr11:75234433..75238212,4	K562	blood:
4	chr11:75189541..75191420-chr11:75235512..75237815,2	K562	blood:
5	chr11:75137530..75143776-chr11:75234822..75239544,9	MCF-7	breast:
6	chr11:75109262..75112458-chr11:75235870..75238742,4	MCF-7	breast:
7	chr11:75189920..75194162-chr11:75235512..75239199,3	K562	blood:
8	chr11:75236530..75237129-chr12:53845680..53846296,2	Hela-S3	cervix:
9	chr11:75162095..75164647-chr11:75235506..75237767,3	MCF-7	breast:
10	chr11:75108861..75112568-chr11:75234338..75239079,8	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KLHL35-4	chr11:75236834-75236909	NONHSAT023108

Variant related genes	Relation type
GDPD5	TF binding region
ENSG00000197111	Chromatin interaction
ENSG00000168488	Chromatin interaction
ENSG00000254460	Chromatin interaction
ENSG00000149273	Chromatin interaction
ENSG00000206941	Chromatin interaction
ENSG00000149243	Chromatin interaction
ENSG00000158555	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
2	nsv897923	chr11:75129007-75302855	Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
3	esv3371732	chr11:75235729-75238277	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 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	chr11:75235200-75237600	Active TSS	Brain Hippocampus Middle	brain
2	chr11:75235200-75237800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr11:75235200-75237800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr11:75235400-75238000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
5	chr11:75235600-75237800	Active TSS	Right Atrium	heart
6	chr11:75235600-75238000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
7	chr11:75235800-75237400	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr11:75235800-75237400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr11:75235800-75237400	Active TSS	Brain Cingulate Gyrus	brain
10	chr11:75235800-75237600	Active TSS	Brain Substantia Nigra	brain
11	chr11:75235800-75237600	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr11:75235800-75237600	Active TSS	HSMMtube	muscle
13	chr11:75236000-75237400	Active TSS	Primary T cells from cord blood	blood
14	chr11:75236000-75237400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
15	chr11:75236000-75237400	Active TSS	Primary T helper naive cells from peripheral blood	blood
16	chr11:75236000-75237400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
17	chr11:75236000-75237400	Active TSS	Muscle Satellite Cultured Cells	--
18	chr11:75236000-75237400	Active TSS	Gastric	stomach
19	chr11:75236000-75237400	Active TSS	Pancreas	Pancrea
20	chr11:75236000-75237400	Active TSS	Psoas Muscle	Psoas
21	chr11:75236000-75237400	Active TSS	Rectal Smooth Muscle	rectum
22	chr11:75236000-75237400	Bivalent/Poised TSS	NHEK	skin
23	chr11:75236000-75237600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr11:75236000-75237600	Active TSS	Primary T killer memory cells from peripheral blood	blood
25	chr11:75236000-75237600	Active TSS	Brain Angular Gyrus	brain
26	chr11:75236000-75237600	Active TSS	NHDF-Ad	bronchial
27	chr11:75236000-75237800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr11:75236000-75237800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
29	chr11:75236000-75237800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:75236000-75237800	Active TSS	A549	lung
31	chr11:75236000-75237800	Active TSS	HSMM	muscle
32	chr11:75236000-75238000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr11:75236000-75238200	Active TSS	H9 Cell Line	embryonic stem cell
34	chr11:75236200-75237200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr11:75236200-75237200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
36	chr11:75236200-75237400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
37	chr11:75236200-75237400	Active TSS	Brain Inferior Temporal Lobe	brain
38	chr11:75236200-75237600	Active TSS	Aorta	Aorta
39	chr11:75236200-75237600	Active TSS	Sigmoid Colon	Sigmoid Colon
40	chr11:75236200-75237600	Active TSS	Small Intestine	intestine
41	chr11:75236200-75237800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr11:75236200-75237800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr11:75236200-75237800	Active TSS	Brain Anterior Caudate	brain
44	chr11:75236400-75237000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
45	chr11:75236400-75237200	Active TSS	Monocytes-CD14+_RO01746	blood
46	chr11:75236400-75237400	Active TSS	Primary monocytes fromperipheralblood	blood
47	chr11:75236400-75237400	Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr11:75236400-75237400	Active TSS	Colonic Mucosa	Colon
49	chr11:75236400-75237400	Active TSS	K562	blood
50	chr11:75236400-75237600	Active TSS	Left Ventricle	heart

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