Variant report

Variant	nsv979608
Chromosome Location	chr22:29233930-29240181
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:57)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:57 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr22:29237234-29237413	HepG2	liver:	n/a	n/a
2	CEBPB	chr22:29237232-29237375	HepG2	liver:	n/a	n/a
3	CEBPB	chr22:29237149-29237583	HepG2	liver:	n/a	n/a
4	CEBPB	chr22:29237150-29237430	A549	lung:	n/a	n/a
5	CEBPB	chr22:29237085-29237454	MCF-7	breast:	n/a	n/a
6	CTCF	chr22:29237140-29237290	HEK293	kidney:	n/a	n/a
7	CTCF	chr22:29237200-29237350	HCPEpiC	choroid plexus:	n/a	n/a
8	CTCF	chr22:29237280-29237430	HCFaa	heart:	n/a	n/a
9	CTCF	chr22:29237120-29237270	NHEK	skin:	n/a	n/a
10	CTCF	chr22:29237180-29237330	HAc	cerebellar:	n/a	n/a
11	CTCF	chr22:29237180-29237330	BJ	skin:	n/a	n/a
12	CTCF	chr22:29237160-29237310	AG04450	lung:	n/a	n/a
13	CTCF	chr22:29237200-29237350	HepG2	liver:	n/a	n/a
14	CTCF	chr22:29237180-29237330	HL-60	blood:	n/a	n/a
15	CTCF	chr22:29237200-29237350	HPF	lung:	n/a	n/a
16	CTCF	chr22:29237240-29237390	HMF	breast:	n/a	n/a
17	CTCF	chr22:29237160-29237310	MCF-7	breast:	n/a	n/a
18	CTCF	chr22:29237220-29237370	HPAF	blood vessel:	n/a	n/a
19	CTCF	chr22:29237140-29237290	HRPEpiC	eye:	n/a	n/a
20	CTCF	chr22:29237220-29237370	HCT-116	colon:	n/a	n/a
21	CTCF	chr22:29237160-29237310	HepG2	liver:	n/a	n/a
22	CTCF	chr22:29237200-29237350	HMEC	breast:	n/a	n/a
23	CTCF	chr22:29237160-29237310	HEEpiC	esophagus:	n/a	n/a
24	CTCF	chr22:29237080-29237230	HFF	foreskin:	n/a	n/a
25	CTCF	chr22:29237100-29237250	A549	lung:	n/a	n/a
26	CTCF	chr22:29237160-29237310	GM12873	blood:	n/a	n/a
27	CTCF	chr22:29237360-29237510	MCF-7	breast:	n/a	n/a
28	CTCF	chr22:29237200-29237350	HPAF	blood vessel:	n/a	n/a
29	CTCF	chr22:29237300-29237450	HA-sp	spinal cord:	n/a	n/a
30	CTCF	chr22:29237240-29237390	BE2_C	brain:	n/a	n/a
31	CTCF	chr22:29235360-29235510	GM12864	blood:	n/a	n/a
32	CTCF	chr22:29237240-29237390	HVMF	connective:	n/a	n/a
33	CTCF	chr22:29237240-29237390	MCF-7	breast:	n/a	n/a
34	CTCF	chr22:29237200-29237350	HMF	breast:	n/a	n/a
35	CTCF	chr22:29237200-29237350	GM12875	blood:	n/a	n/a
36	CTCF	chr22:29237160-29237310	Caco-2	colon:	n/a	n/a
37	CTCF	chr22:29236735-29236785	GM10248	blood:	n/a	n/a
38	CTCF	chr22:29237140-29237290	HBMEC	blood vessel:	n/a	n/a
39	CTCF	chr22:29237140-29237290	HFF-Myc	foreskin:	n/a	n/a
40	CTCF	chr22:29237260-29237410	HUVEC	blood vessel:	n/a	n/a
41	CTCF	chr22:29237200-29237350	AG04449	skin:	n/a	n/a
42	CTCF	chr22:29237200-29237350	HRE	kidney:	n/a	n/a
43	E2F6	chr22:29234121-29234269	K562	blood:	n/a	n/a
44	FOXA1	chr22:29237072-29237425	HepG2	liver:	n/a	n/a
45	FOXA1	chr22:29235002-29235374	HepG2	liver:	n/a	n/a
46	FOXA1	chr22:29237160-29237487	HepG2	liver:	n/a	n/a
47	FOXA1	chr22:29237224-29237402	T-47D	breast:	n/a	n/a
48	FOXA1	chr22:29237035-29237415	HepG2	liver:	n/a	n/a
49	FOXA1	chr22:29237147-29237452	HepG2	liver:	n/a	n/a
50	FOXA2	chr22:29237170-29237454	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:29239636..29243251-chr22:29245556..29248104,3	K562	blood:
2	chr22:29227240..29229282-chr22:29232209..29234813,2	MCF-7	breast:
3	chr22:29190538..29192302-chr22:29232291..29234137,2	MCF-7	breast:
4	chr22:29193757..29196452-chr22:29234835..29237188,2	MCF-7	breast:
5	chr22:29226520..29228881-chr22:29235030..29237241,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCDC117-1	chr22:29234848-29235021	ENSG00000226471.2
2	lnc-CCDC117-1	chr22:29240115-29240187	ENSG00000226471.2

No data

Variant related genes	Relation type
ENSG00000224256	TF binding region
ENSG00000100219	chromatin interactions

Extended variants
information (count: 253 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:253 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369439195	chr22:29233935-29233936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs145542025	chr22:29233956-29233957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs373618872	chr22:29233974-29233975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs187816408	chr22:29233977-29233978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs530478889	chr22:29234084-29234085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs552237596	chr22:29234174-29234175	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs191429369	chr22:29234217-29234218	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs532729085	chr22:29234240-29234241	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs183221020	chr22:29234261-29234262	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs566340456	chr22:29234293-29234294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs9625592	chr22:29234297-29234298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs13053395	chr22:29234307-29234308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs530776275	chr22:29234311-29234312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs71196608	chr22:29234316-29234317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs5762843	chr22:29234317-29234318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs7288908	chr22:29234321-29234322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs5762844	chr22:29234323-29234324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs5762845	chr22:29234324-29234325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs5762846	chr22:29234332-29234333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs368495841	chr22:29234385-29234386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs199937023	chr22:29234389-29234390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs548198766	chr22:29234393-29234394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs370072985	chr22:29234395-29234396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs201178131	chr22:29234402-29234403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs202173282	chr22:29234408-29234409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs558614448	chr22:29234412-29234413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs577008056	chr22:29234414-29234415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs546673145	chr22:29234417-29234418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs534818176	chr22:29234418-29234419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs374833008	chr22:29234421-29234422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs13053580	chr22:29234423-29234424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs186626107	chr22:29234428-29234429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs376822775	chr22:29234445-29234446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs537091210	chr22:29234454-29234455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs558624530	chr22:29234461-29234462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs112762304	chr22:29234499-29234500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs145340137	chr22:29234516-29234517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs552766999	chr22:29234521-29234522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs2881634	chr22:29234537-29234538	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs201136843	chr22:29234564-29234565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs75221161	chr22:29234570-29234571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs62235741	chr22:29234585-29234586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs2881635	chr22:29234593-29234594	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs563472530	chr22:29234602-29234603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs569081556	chr22:29234605-29234606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs143010943	chr22:29234606-29234607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs535626104	chr22:29234639-29234640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs111735113	chr22:29234647-29234648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs568412019	chr22:29234648-29234649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs578240813	chr22:29234700-29234701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Ovine squamous-cell carcinoma	17599052	CNVD
Cat eye syndrome	16708226	CNVD
Olfactory neuroblastoma	18408657	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

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29214800-29242200	Weak transcription	Aorta	Aorta
2	chr22:29216000-29238600	Weak transcription	Spleen	Spleen
3	chr22:29219400-29234800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr22:29224000-29237400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr22:29225400-29242000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr22:29226000-29248800	Weak transcription	Primary T cells from cord blood	blood
7	chr22:29226200-29234600	Weak transcription	Brain Substantia Nigra	brain
8	chr22:29226200-29234800	Weak transcription	Duodenum Mucosa	Duodenum
9	chr22:29226200-29239600	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr22:29226200-29242800	Weak transcription	Stomach Smooth Muscle	stomach
11	chr22:29226600-29241800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr22:29226600-29242200	Weak transcription	Fetal Muscle Leg	muscle
13	chr22:29227800-29235000	Weak transcription	Liver	Liver
14	chr22:29229400-29241800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr22:29230400-29236800	Weak transcription	Fetal Stomach	stomach
16	chr22:29231200-29239200	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr22:29232200-29234600	Weak transcription	Fetal Intestine Large	intestine
18	chr22:29232200-29235600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr22:29232600-29236000	Weak transcription	Fetal Intestine Small	intestine
20	chr22:29233000-29234200	Enhancers	Dnd41	blood
21	chr22:29234000-29235800	Enhancers	HepG2	liver
22	chr22:29234000-29251600	Weak transcription	Fetal Lung	lung
23	chr22:29234200-29236400	Weak transcription	Dnd41	blood
24	chr22:29234800-29237600	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr22:29235000-29235200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr22:29235000-29235200	Enhancers	Liver	Liver
27	chr22:29235200-29243200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr22:29235800-29237000	Weak transcription	HepG2	liver
29	chr22:29236000-29236400	Strong transcription	Fetal Intestine Small	intestine
30	chr22:29236400-29238800	Weak transcription	Fetal Intestine Small	intestine
31	chr22:29236800-29239000	Weak transcription	Right Atrium	heart
32	chr22:29237000-29237600	Enhancers	HepG2	liver
33	chr22:29237000-29237800	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr22:29237000-29237800	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr22:29237200-29237600	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr22:29237400-29237600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
37	chr22:29237800-29240000	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr22:29237800-29240600	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr22:29239600-29240400	Enhancers	Rectal Mucosa Donor 29	rectum
40	chr22:29240000-29240400	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr22:29240000-29240400	Enhancers	Rectal Mucosa Donor 31	rectum

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