Variant report

Variant	nsv979669
Chromosome Location	chr22:31600580-31602620
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:125)
Chromatin interactive
region (count:3)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr22:31600692-31600867	MCF-7	breast:	n/a	n/a
2	CTCF	chr22:31602410-31602514	K562	blood:	n/a	n/a
3	CTCF	chr22:31602052-31602075	GM20000	blood:	n/a	n/a
4	CTCF	chr22:31601992-31602036	GM20000	blood:	n/a	n/a
5	CTCF	chr22:31601825-31601955	LNCaP	prostate:	n/a	n/a
6	CTCF	chr22:31602540-31602690	HAc	cerebellar:	n/a	n/a
7	GATA3	chr22:31600571-31600806	MCF-7	breast:	n/a	n/a
8	NR2F2	chr22:31600654-31600876	MCF-7	breast:	n/a	n/a
9	POLR2A	chr22:31601374-31601535	K562	blood:	n/a	n/a
10	POLR2A	chr22:31601540-31601745	K562	blood:	n/a	n/a
11	SIN3AK20	chr22:31600374-31600924	MCF-7	breast:	n/a	n/a
12	TCF7L2	chr22:31600557-31600834	MCF-7	breast:	n/a	n/a

(count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:31601170-31601220	HMEC	breast:	n/a
2	chr22:31601170-31601220	AG09309	skin:	n/a
3	chr22:31601170-31601220	ovcar-3	ovarian:	n/a
4	chr22:31601170-31601220	HMEC	breast:	n/a
5	chr22:31601170-31601220	AG09309	skin:	n/a
6	chr22:31601170-31601220	ovcar-3	ovarian:	n/a
7	chr22:31601170-31601220	HRPEpiC	eye:	n/a
8	chr22:31601170-31601220	GM12891	blood:	n/a
9	chr22:31601057-31601107	HCT-116	colon:	n/a
10	chr22:31601057-31601107	NB4	blood:	n/a
11	chr22:31601170-31601220	T-47D	breast:	n/a
12	chr22:31601057-31601107	NHBE	bronchial:	n/a
13	chr22:31601170-31601220	U87	brain:	n/a
14	chr22:31601057-31601107	HEEpiC	esophagus:	n/a
15	chr22:31601170-31601220	HNPCEpiC	eye:	n/a
16	chr22:31601170-31601220	SK-N-MC	brain:	n/a
17	chr22:31601057-31601107	U87	brain:	n/a
18	chr22:31601057-31601107	SAEC	small airway:	n/a
19	chr22:31601170-31601220	AG04449	skin:	fetal
20	chr22:31601170-31601220	SK-N-SH	brain:	n/a
21	chr22:31601170-31601220	ECC-1	luminal epithelium:	n/a
22	chr22:31601057-31601107	HUVEC	blood vessel:	n/a
23	chr22:31601170-31601220	CMK	blood:	n/a
24	chr22:31601057-31601107	HAEpiC	amniotic membrane:	n/a
25	chr22:31601170-31601220	HL-60	blood:	n/a
26	chr22:31601057-31601107	GM12891	blood:	n/a
27	chr22:31601057-31601107	ECC-1	luminal epithelium:	n/a
28	chr22:31601057-31601107	HCM	heart:	n/a
29	chr22:31601170-31601220	AoSMC	blood vessel:	n/a
30	chr22:31601057-31601107	HL-60	blood:	n/a
31	chr22:31601057-31601107	BE2_C	brain:	n/a
32	chr22:31601057-31601107	AG09309	skin:	n/a
33	chr22:31601057-31601107	BJ	skin:	n/a
34	chr22:31601057-31601107	SKMC	muscle:	n/a
35	chr22:31601170-31601220	Caco-2	colon:	n/a
36	chr22:31601170-31601220	GM12878	blood:	n/a
37	chr22:31601057-31601107	RPTEC	kidney:	n/a
38	chr22:31601057-31601107	HRE	kidney:	n/a
39	chr22:31601170-31601220	IMR90	lung:	fetal
40	chr22:31601170-31601220	HUVEC	blood vessel:	n/a
41	chr22:31601057-31601107	K562	blood:	n/a
42	chr22:31601057-31601107	AG09319	gingival:	n/a
43	chr22:31601057-31601107	PrEC	prostate:	n/a
44	chr22:31601170-31601220	GM12892	blood:	n/a
45	chr22:31601057-31601107	HCPEpiC	choroid plexus:	n/a
46	chr22:31601170-31601220	PANC-1	pancreas:	n/a
47	chr22:31601170-31601220	HRCEpiC	kidney:	n/a
48	chr22:31601057-31601107	ProgFib	skin:	n/a
49	chr22:31601057-31601107	IMR90	lung:	fetal
50	chr22:31601057-31601107	AoSMC	blood vessel:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:31602004..31608593-chr22:31739507..31744494,7	MCF-7	breast:
2	chr22:31598041..31601034-chr22:31604196..31606916,2	K562	blood:
3	chr22:31602053..31603755-chr22:31608562..31611221,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PLA2G3-1	chr22:31601249-31601602	NONHSAT084859
2	lnc-PLA2G3-1	chr22:31601250-31601602	ENSG00000254835.1

No data

Variant related genes	Relation type
RNF185-AS1	TF binding region
RNF185-AS1	CpG island
ENSG00000213888	chromatin interactions
ENSG00000100105	chromatin interactions

Extended variants
information (count: 72 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377425160	chr22:31600594-31600595	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs370179416	chr22:31600618-31600619	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs546956351	chr22:31600631-31600632	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs552825595	chr22:31600719-31600720	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs2413036	chr22:31600765-31600766	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs560464802	chr22:31600766-31600767	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs3986046	chr22:31600777-31600778	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs3959622	chr22:31600785-31600786	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs112676119	chr22:31600792-31600793	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529331770	chr22:31600799-31600800	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs2413037	chr22:31600806-31600807	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs2413038	chr22:31600812-31600813	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs368526422	chr22:31600823-31600824	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs549091921	chr22:31600840-31600841	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs141943625	chr22:31600870-31600871	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs537977212	chr22:31600890-31600891	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs551805504	chr22:31600900-31600901	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs557554206	chr22:31600976-31600977	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs3986047	chr22:31601000-31601001	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs557848232	chr22:31601003-31601004	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs3986048	chr22:31601033-31601034	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs74491643	chr22:31601051-31601052	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs534119288	chr22:31601058-31601059	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs377658982	chr22:31601171-31601172	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs3986049	chr22:31601173-31601174	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs369438993	chr22:31601176-31601177	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs3986050	chr22:31601180-31601181	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs561599246	chr22:31601265-31601266	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs567599006	chr22:31601296-31601297	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs71331280	chr22:31601310-31601311	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs71331281	chr22:31601342-31601343	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs71331282	chr22:31601361-31601362	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs531445414	chr22:31601376-31601377	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
34	rs71331283	chr22:31601387-31601388	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs535470181	chr22:31601428-31601429	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs548199142	chr22:31601438-31601439	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs575126620	chr22:31601439-31601440	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
38	rs186234657	chr22:31601528-31601529	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
39	rs557875746	chr22:31601532-31601533	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs199915119	chr22:31601543-31601544	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs577957368	chr22:31601558-31601559	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs540406188	chr22:31601628-31601629	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs112993120	chr22:31601658-31601659	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs190699044	chr22:31601693-31601694	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs201127663	chr22:31601771-31601772	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs181903594	chr22:31601774-31601775	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs185727750	chr22:31601825-31601826	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs531691476	chr22:31601892-31601893	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs3986051	chr22:31601900-31601901	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs2413039	chr22:31601972-31601973	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Lung cancer	18438408	CNVD
Pancreatic endocrine tumor	17639061	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
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
Myelofibrosis	22110671	CNVD
muscular dystrophy type 1D	21248746	CNVD
Leukoplakia	24403051	CNVD
Ovarian neoplasms	16753589	CNVD
Pancreatic cancer	17952125	CNVD
Amyotrophic lateral sclerosis	20858604	CNVD
Breast cancer	22522925	CNVD
Breast cancer	17142309	CNVD
Autism	22543975	CNVD

Chromatin state (count:209 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31558800-31606000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr22:31570000-31606400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr22:31574400-31601600	Weak transcription	Fetal Heart	heart
4	chr22:31575800-31602600	Weak transcription	Stomach Mucosa	stomach
5	chr22:31575800-31607600	Weak transcription	Hela-S3	cervix
6	chr22:31576000-31607800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr22:31576000-31607800	Weak transcription	A549	lung
8	chr22:31579200-31607400	Weak transcription	K562	blood
9	chr22:31580800-31607600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr22:31581400-31607800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr22:31582400-31602400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr22:31582800-31603600	Strong transcription	Liver	Liver
13	chr22:31584000-31608200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr22:31585600-31601200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr22:31586000-31603800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr22:31587000-31602200	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr22:31588200-31606600	Strong transcription	Fetal Stomach	stomach
18	chr22:31588400-31603400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr22:31588600-31606400	Strong transcription	Fetal Intestine Small	intestine
20	chr22:31589000-31607200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr22:31589200-31602200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr22:31589400-31603600	Strong transcription	Adipose Nuclei	Adipose
23	chr22:31589400-31605800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr22:31590600-31601800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr22:31590600-31602000	Strong transcription	Duodenum Mucosa	Duodenum
26	chr22:31590600-31603200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr22:31592000-31601200	Weak transcription	Small Intestine	intestine
28	chr22:31592000-31607800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr22:31592800-31606000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr22:31593000-31607400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr22:31593200-31607600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr22:31594800-31602400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr22:31595000-31600800	Strong transcription	Osteobl	bone
34	chr22:31595000-31602200	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr22:31595000-31602400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr22:31595000-31605200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr22:31595000-31605800	Strong transcription	Fetal Muscle Trunk	muscle
38	chr22:31595200-31601800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr22:31595200-31602200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr22:31595200-31602200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr22:31595200-31603400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr22:31595200-31603800	Strong transcription	Stomach Smooth Muscle	stomach
43	chr22:31595200-31604400	Strong transcription	Fetal Intestine Large	intestine
44	chr22:31595400-31602000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr22:31595400-31603000	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr22:31595800-31606000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr22:31596200-31602400	Weak transcription	Psoas Muscle	Psoas
48	chr22:31596600-31606400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr22:31596600-31607600	Weak transcription	Fetal Kidney	kidney
50	chr22:31596800-31602000	Strong transcription	Brain Germinal Matrix	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links