Variant report

Variant	rs142698935
Chromosome Location	chr11:74952295-74952296
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	MAX	chr11:74952029-74953350	A549	lung:	n/a	n/a
2	TAF1	chr11:74951962-74953051	H1-neurons	neurons:	n/a	n/a
3	MYC	chr11:74952294-74953531	A549	lung:	n/a	n/a
4	REST	chr11:74951784-74953454	H1-neurons	neurons:	n/a	chr11:74953370-74953383 chr11:74952124-74952137 chr11:74952148-74952161 chr11:74952066-74952076 chr11:74952103-74952116
5	SIN3A	chr11:74951461-74953278	H1-hESC	embryonic stem cell:	n/a	chr11:74952307-74952320 chr11:74951502-74951516 chr11:74952067-74952076
6	E2F6	chr11:74952103-74953210	A549	lung:	n/a	chr11:74952355-74952364 chr11:74952329-74952338 chr11:74952505-74952517
7	POLR2A	chr11:74952255-74952871	MCF-7	breast:	n/a	n/a
8	REST	chr11:74952090-74952489	H1-neurons	neurons:	n/a	chr11:74952124-74952137 chr11:74952148-74952161 chr11:74952103-74952116
9	POLR2A	chr11:74952132-74953187	MCF-7	breast:	n/a	n/a
10	JUN	chr11:74952189-74953323	K562	blood:	n/a	n/a
11	E2F6	chr11:74952209-74952624	K562	blood:	n/a	chr11:74952355-74952364 chr11:74952329-74952338 chr11:74952505-74952517
12	POLR2A	chr11:74952037-74953321	H1-neurons	neurons:	n/a	n/a
13	POLR2A	chr11:74952258-74952504	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr11:74952193-74953117	A549	lung:	n/a	n/a
15	POLR2A	chr11:74952251-74952935	HepG2	liver:	n/a	n/a
16	MAZ	chr11:74952268-74953202	K562	blood:	n/a	n/a
17	PAX5	chr11:74952295-74952996	GM12892	blood:	n/a	chr11:74952315-74952324
18	MAX	chr11:74951783-74953204	HepG2	liver:	n/a	chr11:74951796-74951806 chr11:74951919-74951929
19	MAX	chr11:74952053-74953250	ECC-1	luminal epithelium:	n/a	n/a
20	POLR2A	chr11:74952058-74953039	H1-hESC	embryonic stem cell:	n/a	n/a
21	E2F6	chr11:74951959-74953483	K562	blood:	n/a	chr11:74952080-74952090 chr11:74952355-74952364 chr11:74952329-74952338 chr11:74953362-74953374 chr11:74952505-74952517
22	CTCF	chr11:74952260-74952488	HepG2	liver:	n/a	chr11:74952349-74952362 chr11:74952351-74952361
23	POLR2A	chr11:74952206-74953069	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr11:74952180-74952330	GM12870	blood:	n/a	n/a
25	ZNF263	chr11:74952118-74953057	HEK293-T-REx	kidney:	n/a	n/a
26	MAX	chr11:74952155-74953065	HepG2	liver:	n/a	n/a
27	MAX	chr11:74952126-74953240	HCT-116	colon:	n/a	n/a
28	UBTF	chr11:74952149-74953136	K562	blood:	n/a	n/a
29	HDAC2	chr11:74952104-74952431	HepG2	liver:	n/a	n/a
30	POLR2A	chr11:74952217-74952500	HCT-116	colon:	n/a	n/a
31	KAP1	chr11:74952279-74953009	HEK293	kidney:	n/a	n/a
32	E2F6	chr11:74952022-74953660	H1-hESC	embryonic stem cell:	n/a	chr11:74952080-74952090 chr11:74952355-74952364 chr11:74952329-74952338 chr11:74953362-74953374 chr11:74952505-74952517
33	REST	chr11:74952184-74953256	PFSK-1	brain:	n/a	n/a
34	MAX	chr11:74952105-74953193	A549	lung:	n/a	n/a
35	CTCF	chr11:74951921-74953536	SK-N-SH	brain:	n/a	chr11:74952029-74952038 chr11:74952349-74952362 chr11:74952351-74952361 chr11:74952174-74952187
36	POLR2A	chr11:74952284-74952906	HepG2	liver:	n/a	n/a
37	FOXP2	chr11:74952135-74953225	PFSK-1	brain:	n/a	n/a
38	UBTF	chr11:74952034-74953166	K562	blood:	n/a	n/a
39	MAX	chr11:74952123-74953207	MCF-7	breast:	n/a	n/a
40	MAX	chr11:74952065-74953279	H1-hESC	embryonic stem cell:	n/a	n/a
41	RCOR1	chr11:74952228-74953134	K562	blood:	n/a	n/a
42	TAF1	chr11:74952208-74952475	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr11:74952260-74952505	H1-hESC	embryonic stem cell:	n/a	n/a
44	MAX	chr11:74952055-74953165	HepG2	liver:	n/a	n/a
45	E2F6	chr11:74952111-74953228	K562	blood:	n/a	chr11:74952355-74952364 chr11:74952329-74952338 chr11:74952505-74952517
46	MAX	chr11:74952056-74953175	K562	blood:	n/a	n/a
47	MYC	chr11:74952170-74953075	MCF-7	breast:	n/a	n/a
48	SMC3	chr11:74952027-74953312	SK-N-SH	brain:	n/a	chr11:74952352-74952362
49	MYC	chr11:74952241-74953072	K562	blood:	n/a	n/a
50	CTBP2	chr11:74951385-74953406	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:74915518..74916204-chr11:74952277..74953016,2	MCF-7	breast:
2	chr11:74925158..74925973-chr11:74952278..74953089,3	K562	blood:
3	chr11:74660462..74662157-chr11:74951131..74952954,2	K562	blood:
4	chr11:74930581..74931130-chr11:74952289..74952870,2	K562	blood:
5	chr11:74657727..74660130-chr11:74951983..74953797,2	K562	blood:

Variant related genes	Relation type
ENSG00000255136	TF binding region
ENSG00000118363	Chromatin interaction
ENSG00000166435	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049887	chr11:74937977-75040438	Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1036292	chr11:74937977-75059496	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	65 gene(s)	inside rSNPs	diseases
3	nsv1041640	chr11:74945824-75174688	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	94 gene(s)	inside rSNPs	diseases
4	nsv832211	chr11:74945839-75106125	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	66 gene(s)	inside rSNPs	diseases
5	esv3338705	chr11:74950304-74954802	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv3357620	chr11:74951054-74954252	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv3416910	chr11:74951204-74954302	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	esv3322804	chr11:74951829-74954677	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74951000-74953200	Active TSS	Brain Anterior Caudate	brain
2	chr11:74951000-74953400	Active TSS	Brain Angular Gyrus	brain
3	chr11:74951000-74953600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
4	chr11:74951200-74952600	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr11:74951400-74952400	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
6	chr11:74951400-74952400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr11:74951400-74952400	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
8	chr11:74951400-74952600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr11:74951400-74952800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr11:74951400-74952800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr11:74951400-74952800	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
12	chr11:74951400-74953000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
13	chr11:74951400-74953200	Bivalent/Poised TSS	NHEK	skin
14	chr11:74951400-74953400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr11:74951400-74953400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
16	chr11:74951400-74953400	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr11:74951400-74953400	Active TSS	Right Atrium	heart
18	chr11:74951400-74953600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
19	chr11:74951400-74953600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr11:74951400-74953600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr11:74951400-74953600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
22	chr11:74951400-74953600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
23	chr11:74951400-74953600	Enhancers	Liver	Liver
24	chr11:74951600-74952400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
25	chr11:74951600-74952600	Flanking Active TSS	Ovary	ovary
26	chr11:74951600-74952800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr11:74951600-74953000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr11:74951600-74953000	Active TSS	H9 Cell Line	embryonic stem cell
29	chr11:74951600-74953000	Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr11:74951600-74953000	Flanking Active TSS	Right Ventricle	heart
31	chr11:74951600-74953200	Active TSS	Primary T cells from cord blood	blood
32	chr11:74951600-74953200	Active TSS	Brain Substantia Nigra	brain
33	chr11:74951600-74953200	Bivalent/Poised TSS	HSMMtube	muscle
34	chr11:74951600-74953400	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:74951600-74953400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
36	chr11:74951600-74953400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
37	chr11:74951600-74953400	Flanking Active TSS	Primary hematopoietic stem cells	blood
38	chr11:74951600-74953400	Active TSS	Brain Cingulate Gyrus	brain
39	chr11:74951600-74953400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr11:74951600-74953400	Bivalent/Poised TSS	HepG2	liver
41	chr11:74951600-74953400	Bivalent/Poised TSS	Osteobl	bone
42	chr11:74951600-74953600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
43	chr11:74951800-74952400	Enhancers	Fetal Heart	heart
44	chr11:74951800-74952600	Bivalent/Poised TSS	HUVEC	blood vessel
45	chr11:74951800-74952800	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
46	chr11:74951800-74953000	Flanking Active TSS	Stomach Smooth Muscle	stomach
47	chr11:74951800-74953200	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr11:74951800-74953200	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr11:74951800-74953400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr11:74951800-74953400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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