Variant report

Variant	nsv524511
Chromosome Location	chr22:29877417-29877625
allele	n/a
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	BACH1	chr22:29876282-29878043	H1-hESC	embryonic stem cell:	n/a	n/a
2	CHD2	chr22:29876574-29877980	H1-hESC	embryonic stem cell:	n/a	chr22:29877153-29877163
3	CREB1	chr22:29876556-29877462	H1-hESC	embryonic stem cell:	n/a	n/a
4	CREB1	chr22:29876713-29877449	K562	blood:	n/a	n/a
5	CTBP2	chr22:29877603-29878003	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr22:29876805-29877527	K562	blood:	n/a	chr22:29877380-29877393
7	E2F4	chr22:29876629-29877509	K562	blood:	n/a	chr22:29877137-29877146
8	E2F6	chr22:29875801-29877672	H1-hESC	embryonic stem cell:	n/a	chr22:29877137-29877146 chr22:29876212-29876224
9	E2F6	chr22:29875674-29878117	H1-hESC	embryonic stem cell:	n/a	chr22:29877137-29877146 chr22:29876212-29876224
10	EP300	chr22:29877620-29877954	H1-hESC	embryonic stem cell:	n/a	n/a
11	EP300	chr22:29877573-29878133	MCF-7	breast:	n/a	n/a
12	EP300	chr22:29877606-29878096	H1-hESC	embryonic stem cell:	n/a	n/a
13	ETS1	chr22:29876915-29877432	K562	blood:	n/a	n/a
14	FOXM1	chr22:29877619-29878110	MCF-7	breast:	n/a	n/a
15	HCFC1	chr22:29877546-29877623	K562	blood:	n/a	n/a
16	HEY1	chr22:29877145-29877438	K562	blood:	n/a	n/a
17	JUN	chr22:29876546-29877482	K562	blood:	n/a	n/a
18	JUND	chr22:29877612-29877978	H1-hESC	embryonic stem cell:	n/a	n/a
19	MAFK	chr22:29877588-29878045	H1-hESC	embryonic stem cell:	n/a	n/a
20	MAX	chr22:29875631-29878091	H1-hESC	embryonic stem cell:	n/a	chr22:29876117-29876127 chr22:29877654-29877663
21	MAX	chr22:29876147-29877975	H1-hESC	embryonic stem cell:	n/a	chr22:29877654-29877663
22	MAX	chr22:29876079-29877944	K562	blood:	n/a	chr22:29876117-29876127 chr22:29877654-29877663
23	MAX	chr22:29877539-29877693	K562	blood:	n/a	chr22:29877654-29877663
24	MXI1	chr22:29877546-29877913	H1-hESC	embryonic stem cell:	n/a	chr22:29877653-29877662
25	MXI1	chr22:29875358-29878062	SK-N-SH	brain:	n/a	chr22:29877653-29877662
26	MYC	chr22:29876181-29877973	K562	blood:	n/a	chr22:29877654-29877663
27	MYC	chr22:29876676-29877425	K562	blood:	n/a	n/a
28	MYC	chr22:29877521-29877825	H1-hESC	embryonic stem cell:	n/a	chr22:29877654-29877663
29	MYC	chr22:29876592-29877977	K562	blood:	n/a	chr22:29877654-29877663
30	NANOG	chr22:29877574-29877905	H1-hESC	embryonic stem cell:	n/a	n/a
31	NR2F2	chr22:29877539-29878035	MCF-7	breast:	n/a	n/a
32	NRF1	chr22:29876483-29877798	SK-N-SH	brain:	n/a	chr22:29877136-29877147 chr22:29877136-29877150
33	POLR2A	chr22:29877609-29877617	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr22:29877528-29877536	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr22:29877546-29877565	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr22:29877579-29877605	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr22:29875929-29877897	K562	blood:	n/a	n/a
38	POLR2A	chr22:29876718-29877888	K562	blood:	n/a	n/a
39	POLR2A	chr22:29876657-29877430	K562	blood:	n/a	n/a
40	RAD21	chr22:29877620-29877998	H1-hESC	embryonic stem cell:	n/a	n/a
41	RAD21	chr22:29876716-29877433	H1-hESC	embryonic stem cell:	n/a	chr22:29877380-29877390
42	RAD21	chr22:29877554-29878029	H1-hESC	embryonic stem cell:	n/a	n/a
43	REST	chr22:29876533-29877434	HL-60	blood:	n/a	chr22:29877171-29877184
44	SMC3	chr22:29877039-29877460	K562	blood:	n/a	chr22:29877380-29877394
45	SP1	chr22:29877582-29878051	H1-hESC	embryonic stem cell:	n/a	chr22:29877808-29877820 chr22:29877808-29877819 chr22:29877809-29877819 chr22:29877809-29877823 chr22:29877809-29877818 chr22:29877810-29877819 chr22:29877808-29877820
46	SP1	chr22:29877535-29878070	H1-hESC	embryonic stem cell:	n/a	chr22:29877808-29877820 chr22:29877808-29877819 chr22:29877809-29877819 chr22:29877809-29877823 chr22:29877809-29877818 chr22:29877810-29877819 chr22:29877808-29877820
47	TBP	chr22:29876892-29877438	K562	blood:	n/a	n/a
48	TCF12	chr22:29877597-29878055	H1-hESC	embryonic stem cell:	n/a	chr22:29877783-29877793
49	TCF7L2	chr22:29877553-29877998	HCT-116	colon:	n/a	chr22:29877748-29877762 chr22:29877751-29877760
50	YY1	chr22:29877466-29877947	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:29877350..29878233-chr22:29913108..29913740,2	MCF-7	breast:
2	chr22:29877412..29878391-chr22:29912701..29914203,38	MCF-7	breast:
3	chr22:29876809..29879806-chr22:29881526..29883122,2	K562	blood:
4	chr22:29866168..29866984-chr22:29877594..29878224,2	K562	blood:
5	chr22:29877541..29878058-chr22:29914348..29915105,2	MCF-7	breast:
6	chr22:29877043..29879359-chr22:29911623..29914922,6	MCF-7	breast:
7	chr22:29781578..29782726-chr22:29877337..29878344,7	MCF-7	breast:
8	chr22:29783197..29785326-chr22:29874558..29877420,2	MCF-7	breast:
9	chr22:29663630..29665723-chr22:29877193..29880137,2	K562	blood:
10	chr22:29877386..29878406-chr22:29912849..29914254,52	MCF-7	breast:
11	chr22:29866353..29868086-chr22:29877604..29879531,2	K562	blood:
12	chr22:29877072..29879814-chr22:29891846..29894236,2	MCF-7	breast:
13	chr22:29877422..29878326-chr22:29912754..29914005,18	MCF-7	breast:
14	chr22:29876640..29878874-chr22:29919748..29922123,2	K562	blood:
15	chr22:29865857..29867643-chr22:29876448..29878393,2	MCF-7	breast:
16	chr22:29781864..29782673-chr22:29877575..29878342,2	MCF-7	breast:

Variant related genes	Relation type
RFPL1S	TF binding region
ENSG00000100263	chromatin interactions
ENSG00000100280	chromatin interactions
ENSG00000182944	chromatin interactions

Extended variants
information (count: 17 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs165607	chr22:29877417-29877418	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs142582173	chr22:29877430-29877431	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs556602600	chr22:29877432-29877433	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs572473583	chr22:29877434-29877435	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs73407035	chr22:29877441-29877442	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs561024078	chr22:29877474-29877475	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs576631246	chr22:29877475-29877476	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs67151568	chr22:29877512-29877513	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs531677358	chr22:29877542-29877543	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs75956622	chr22:29877545-29877546	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs165697	chr22:29877557-29877558	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs165865	chr22:29877565-29877566	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs188853358	chr22:29877581-29877582	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs144739005	chr22:29877587-29877588	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs148229152	chr22:29877607-29877608	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs79658766	chr22:29877624-29877625	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs165821	chr22:29877625-29877626	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:67)

Disease	PMID	Source
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Velocardiofacial syndrome	20111667	CNVD
Medulloblastoma	21979893	CNVD
sporadic solitary meningiomas	19589153	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Congenital heart defect	22511896	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Seminomas	18059402	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Metachromatic leukodystrophy	18421352	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Breast cancer	21858162	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	22174824	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	21251322	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Lung cancer	18438408	CNVD
Pancreatic endocrine tumor	17639061	CNVD
abnormal development	18461090	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	19521646	CNVD
Schizophrenia	18990708	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Hepatocellular carcinoma	16750200	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	17322880	CNVD
Breast cancer	20409316	CNVD
Neurofibromatosis type 2	19566914	CNVD
Autism	19384346	CNVD

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29873800-29877800	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
2	chr22:29873800-29877800	Bivalent Enhancer	Placenta	Placenta
3	chr22:29874400-29877600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr22:29874400-29877600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
5	chr22:29874600-29878000	Bivalent/Poised TSS	Brain Angular Gyrus	brain
6	chr22:29874800-29877800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
7	chr22:29875000-29878000	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
8	chr22:29875200-29877600	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr22:29875600-29877600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
10	chr22:29875600-29877600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
11	chr22:29875600-29877600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr22:29875600-29877600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
13	chr22:29875600-29877800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr22:29875800-29877600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
15	chr22:29875800-29877600	Flanking Bivalent TSS/Enh	HMEC	breast
16	chr22:29875800-29877800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr22:29875800-29878000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
18	chr22:29875800-29878000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
19	chr22:29875800-29878000	Enhancers	Pancreas	Pancrea
20	chr22:29875800-29878000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
21	chr22:29875800-29878200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr22:29875800-29878200	Bivalent Enhancer	Fetal Lung	lung
23	chr22:29875800-29878200	Flanking Active TSS	Ovary	ovary
24	chr22:29876000-29877600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr22:29876000-29877600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
26	chr22:29876000-29877600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr22:29876000-29877600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr22:29876000-29877600	Active TSS	K562	blood
29	chr22:29876000-29877800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr22:29876000-29877800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr22:29876000-29878000	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
32	chr22:29876000-29878200	Bivalent Enhancer	Stomach Mucosa	stomach
33	chr22:29876200-29877600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr22:29876200-29878000	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr22:29876400-29877600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
36	chr22:29876400-29877600	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr22:29876400-29877800	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
38	chr22:29876400-29877800	Bivalent Enhancer	HUVEC	blood vessel
39	chr22:29876600-29877600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr22:29876600-29877800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
41	chr22:29876600-29878000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr22:29876600-29878200	Bivalent Enhancer	Primary hematopoietic stem cells	blood
43	chr22:29876800-29877800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr22:29876800-29878000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
45	chr22:29877000-29877600	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
46	chr22:29877000-29877600	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
47	chr22:29877000-29877800	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
48	chr22:29877000-29877800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
49	chr22:29877000-29877800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
50	chr22:29877000-29877800	Bivalent Enhancer	Fetal Thymus	thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links