Variant report

Variant	rs375541632
Chromosome Location	chr11:34361013-34361014
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	NFIC	chr11:34360748-34361294	HepG2	liver:	n/a	n/a
2	ELF1	chr11:34360887-34361346	HepG2	liver:	n/a	n/a
3	ZBTB7A	chr11:34360846-34361021	HepG2	liver:	n/a	chr11:34360953-34360964
4	TCF12	chr11:34360704-34361157	A549	lung:	n/a	n/a
5	FOSL2	chr11:34360681-34361494	A549	lung:	n/a	n/a
6	NR3C1	chr11:34360753-34361241	A549	lung:	n/a	n/a
7	MYC	chr11:34360753-34361553	NB4	blood:	n/a	n/a
8	HDAC2	chr11:34360709-34361314	HepG2	liver:	n/a	chr11:34361148-34361162
9	SP1	chr11:34360606-34361500	A549	lung:	n/a	chr11:34360894-34360904
10	JUND	chr11:34360811-34361296	HepG2	liver:	n/a	n/a
11	BCL11A	chr11:34360766-34361087	GM12878	blood:	n/a	n/a
12	CEBPB	chr11:34360816-34361282	HepG2	liver:	n/a	n/a
13	RUNX3	chr11:34360776-34361045	GM12878	blood:	n/a	n/a
14	SP1	chr11:34360713-34361346	HepG2	liver:	n/a	chr11:34360894-34360904
15	EP300	chr11:34360619-34361380	A549	lung:	n/a	n/a
16	MAX	chr11:34360714-34361580	NB4	blood:	n/a	n/a
17	HDAC2	chr11:34360737-34361253	HepG2	liver:	n/a	chr11:34361148-34361162
18	RCOR1	chr11:34360837-34361061	GM12878	blood:	n/a	n/a
19	NR3C1	chr11:34360799-34361099	A549	lung:	n/a	n/a
20	RXRA	chr11:34360755-34361304	HepG2	liver:	n/a	n/a
21	CEBPD	chr11:34360862-34361160	HepG2	liver:	n/a	n/a
22	FOXA1	chr11:34360714-34361397	HepG2	liver:	n/a	chr11:34360969-34360981
23	CEBPB	chr11:34360755-34361214	A549	lung:	n/a	n/a
24	JUND	chr11:34360684-34361139	A549	lung:	n/a	n/a
25	FOXA2	chr11:34360788-34361497	HepG2	liver:	n/a	chr11:34360969-34360981
26	MBD4	chr11:34360684-34361305	HepG2	liver:	n/a	n/a
27	PBX3	chr11:34360882-34361118	GM12878	blood:	n/a	n/a
28	FOXA1	chr11:34360696-34361227	HepG2	liver:	n/a	chr11:34360969-34360981
29	CEBPB	chr11:34360863-34361379	A549	lung:	n/a	n/a
30	SPI1	chr11:34360656-34361377	HL-60	blood:	n/a	chr11:34360856-34360869 chr11:34361145-34361158
31	BCL3	chr11:34360618-34361152	A549	lung:	n/a	n/a
32	EBF1	chr11:34360839-34361077	GM12878	blood:	n/a	n/a
33	ZBTB7A	chr11:34360741-34361187	HepG2	liver:	n/a	chr11:34360953-34360964 chr11:34361064-34361075
34	CEBPB	chr11:34360601-34361582	A549	lung:	n/a	chr11:34361370-34361383
35	MXI1	chr11:34360847-34361287	HepG2	liver:	n/a	n/a
36	CEBPB	chr11:34360778-34361291	HepG2	liver:	n/a	n/a
37	RUNX3	chr11:34360755-34361093	GM12878	blood:	n/a	n/a
38	MAX	chr11:34360593-34361784	A549	lung:	n/a	n/a
39	BHLHE40	chr11:34360785-34361082	GM12878	blood:	n/a	n/a
40	NR3C1	chr11:34360708-34361195	A549	lung:	n/a	n/a
41	TEAD4	chr11:34360651-34361501	HepG2	liver:	n/a	n/a
42	MYBL2	chr11:34360649-34361307	HepG2	liver:	n/a	n/a
43	EP300	chr11:34360754-34361107	GM12878	blood:	n/a	n/a
44	JUND	chr11:34360684-34361168	A549	lung:	n/a	n/a
45	FOXA2	chr11:34360670-34361238	A549	lung:	n/a	chr11:34360969-34360981
46	NFIC	chr11:34360689-34361366	HepG2	liver:	n/a	n/a
47	CEBPD	chr11:34360773-34361106	HepG2	liver:	n/a	n/a
48	POLR2A	chr11:34360641-34361167	HL-60	blood:	n/a	n/a
49	FOXA1	chr11:34360720-34361397	HepG2	liver:	n/a	chr11:34360969-34360981
50	POLR2A	chr11:34360656-34361277	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:34360672..34363341-chr11:34364599..34366363,2	MCF-7	breast:
2	chr11:34065587..34067431-chr11:34358883..34361873,2	K562	blood:
3	chr11:34357216..34358836-chr11:34360327..34362099,2	K562	blood:

Variant related genes	Relation type
ENSG00000254708	TF binding region
ENSG00000254708	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757435	chr11:34220504-34370236	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv2759816	chr11:34220504-34370236	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv897205	chr11:34248229-34507213	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv897207	chr11:34253683-34621004	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	nsv897208	chr11:34257064-34562247	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	nsv897209	chr11:34309519-34548906	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv897210	chr11:34349427-34381075	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	n/a
8	nsv508622	chr11:34350559-34363184	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
9	esv1845235	chr11:34357429-34363950	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
10	esv3411338	chr11:34360548-34362657	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34351800-34363800	Weak transcription	Left Ventricle	heart
2	chr11:34352600-34363800	Weak transcription	Gastric	stomach
3	chr11:34353200-34365400	Weak transcription	Pancreas	Pancrea
4	chr11:34353400-34362800	Weak transcription	Right Atrium	heart
5	chr11:34354400-34362200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr11:34354400-34363800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr11:34354400-34366600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:34354600-34362600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr11:34354600-34363000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr11:34354600-34363800	Weak transcription	NH-A	brain
11	chr11:34354800-34363000	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr11:34356200-34361800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr11:34358200-34362000	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr11:34359000-34362400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr11:34359400-34364400	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr11:34359600-34362400	Enhancers	Primary B cells from cord blood	blood
17	chr11:34359600-34362400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr11:34360000-34362200	Weak transcription	Fetal Thymus	thymus
19	chr11:34360000-34362400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr11:34360200-34368400	Enhancers	Liver	Liver
21	chr11:34360400-34361200	Enhancers	Primary T cells from cord blood	blood
22	chr11:34360400-34361400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr11:34360400-34361400	Weak transcription	Psoas Muscle	Psoas
24	chr11:34360400-34361600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr11:34360400-34361600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr11:34360400-34361800	Enhancers	GM12878-XiMat	blood
27	chr11:34360600-34361400	Flanking Active TSS	HepG2	liver
28	chr11:34360600-34361600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr11:34360600-34362000	Enhancers	Primary hematopoietic stem cells	blood
30	chr11:34360600-34362000	Enhancers	Lung	lung
31	chr11:34360600-34362000	Flanking Active TSS	A549	lung
32	chr11:34360800-34361200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr11:34360800-34361200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr11:34360800-34361200	Enhancers	Esophagus	oesophagus
35	chr11:34360800-34361200	Enhancers	HSMMtube	muscle
36	chr11:34360800-34361400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr11:34360800-34361400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr11:34360800-34361400	Enhancers	HSMM	muscle
39	chr11:34360800-34361600	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr11:34360800-34362000	Enhancers	Fetal Brain Male	brain
41	chr11:34361000-34361200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr11:34361000-34361200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
43	chr11:34361000-34361200	Enhancers	Duodenum Mucosa	Duodenum
44	chr11:34361000-34361200	Bivalent Enhancer	Osteobl	bone
45	chr11:34361000-34361400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr11:34361000-34361800	Weak transcription	Right Ventricle	heart
47	chr11:34361000-34362000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr11:34361000-34362000	Enhancers	Stomach Mucosa	stomach
49	chr11:34361000-34363400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr11:34361000-34363400	Weak transcription	Rectal Mucosa Donor 31	rectum

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