Variant report

Variant	nsv881141
Chromosome Location	chr4:171620514-171680223
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	ATF2	chr4:171627066-171627444	GM12878	blood:	n/a	n/a
2	BATF	chr4:171627059-171627478	GM12878	blood:	n/a	chr4:171627258-171627268 chr4:171627257-171627268
3	BATF	chr4:171627041-171627394	GM12878	blood:	n/a	chr4:171627258-171627268 chr4:171627257-171627268
4	BCL11A	chr4:171627044-171627417	GM12878	blood:	n/a	n/a
5	BCL11A	chr4:171627029-171627473	GM12878	blood:	n/a	n/a
6	CEBPB	chr4:171644369-171644648	HepG2	liver:	n/a	chr4:171644495-171644506
7	CREB1	chr4:171626954-171627523	GM12878	blood:	n/a	n/a
8	CTCF	chr4:171671756-171671968	MCF-7	breast:	n/a	chr4:171671861-171671879
9	CTCF	chr4:171638060-171638210	GM12874	blood:	n/a	n/a
10	CTCF	chr4:171634502-171634539	GM20000	blood:	n/a	n/a
11	CTCF	chr4:171671740-171671890	GM12874	blood:	n/a	chr4:171671861-171671879
12	CTCF	chr4:171638196-171638275	LNCaP	prostate:	n/a	chr4:171638209-171638227
13	CTCF	chr4:171638120-171638270	WERI-Rb-1	eye:	n/a	chr4:171638209-171638227
14	CTCF	chr4:171638182-171638265	Gliobla	brain:	n/a	chr4:171638209-171638227
15	CTCF	chr4:171638000-171638150	GM12873	blood:	n/a	n/a
16	CTCF	chr4:171638180-171638330	GM12875	blood:	n/a	chr4:171638209-171638227
17	CTCF	chr4:171638140-171638290	GM12878	blood:	n/a	chr4:171638209-171638227
18	CTCF	chr4:171637968-171638416	SK-N-SH	brain:	n/a	chr4:171638209-171638227
19	CTCF	chr4:171638160-171638310	HCPEpiC	choroid plexus:	n/a	chr4:171638209-171638227
20	CTCF	chr4:171671780-171671930	HepG2	liver:	n/a	chr4:171671861-171671879
21	CTCF	chr4:171638140-171638290	HMEC	breast:	n/a	chr4:171638209-171638227
22	CTCF	chr4:171638140-171638290	GM12871	blood:	n/a	chr4:171638209-171638227
23	CTCF	chr4:171638120-171638270	AG09319	gingival:	n/a	chr4:171638209-171638227
24	CTCF	chr4:171671740-171671890	GM12865	blood:	n/a	chr4:171671861-171671879
25	CTCF	chr4:171638100-171638250	GM06990	blood:	n/a	chr4:171638209-171638227
26	CTCF	chr4:171671760-171671910	WERI-Rb-1	eye:	n/a	chr4:171671861-171671879
27	CTCF	chr4:171671773-171671968	MCF-7	breast:	n/a	chr4:171671861-171671879
28	CTCF	chr4:171671809-171671939	MCF-7	breast:	n/a	chr4:171671861-171671879
29	CTCF	chr4:171638140-171638290	HRPEpiC	eye:	n/a	chr4:171638209-171638227
30	CTCF	chr4:171625422-171625440	LNCaP	prostate:	n/a	n/a
31	CTCF	chr4:171671800-171671950	GM12873	blood:	n/a	chr4:171671861-171671879
32	CTCF	chr4:171638203-171638271	MCF-7	breast:	n/a	chr4:171638209-171638227
33	CTCF	chr4:171638160-171638310	GM12865	blood:	n/a	chr4:171638209-171638227
34	CTCF	chr4:171671800-171671918	HepG2	liver:	n/a	chr4:171671861-171671879
35	CTCF	chr4:171638136-171638300	Medullo	brain:	n/a	chr4:171638209-171638227
36	CTCF	chr4:171638160-171638310	HMEC	breast:	n/a	chr4:171638209-171638227
37	CTCF	chr4:171671800-171671950	SK-N-SH_RA	brain:	n/a	chr4:171671861-171671879
38	CTCF	chr4:171638195-171638284	Fibrobl	skin:	n/a	chr4:171638209-171638227
39	CTCF	chr4:171671775-171671880	SK-N-SH_RA	brain:	n/a	chr4:171671861-171671879
40	CTCF	chr4:171671740-171671890	Caco-2	colon:	n/a	chr4:171671861-171671879
41	CTCF	chr4:171638020-171638290	HA-sp	spinal cord:	n/a	chr4:171638209-171638227
42	CTCF	chr4:171638120-171638270	AoAF	blood vessel:	n/a	chr4:171638209-171638227
43	CTCF	chr4:171638160-171638310	GM12873	blood:	n/a	chr4:171638209-171638227
44	CTCF	chr4:171671690-171672027	MCF-7	breast:	n/a	chr4:171671861-171671879
45	CTCF	chr4:171671780-171671950	MCF-7	breast:	n/a	chr4:171671861-171671879
46	CTCF	chr4:171671780-171671930	GM12865	blood:	n/a	chr4:171671861-171671879
47	CTCF	chr4:171638160-171638310	SK-N-SH_RA	brain:	n/a	chr4:171638209-171638227
48	CTCF	chr4:171671740-171671890	HVMF	connective:	n/a	chr4:171671861-171671879
49	CTCF	chr4:171638198-171638258	ProgFib	skin:	n/a	chr4:171638209-171638227
50	CTCF	chr4:171638165-171638289	MCF-7	breast:	n/a	chr4:171638209-171638227

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:171663610-171663660	Caco-2	colon:	n/a
2	chr4:171663610-171663660	ovcar-3	ovarian:	n/a
3	chr4:171663610-171663660	HEEpiC	esophagus:	n/a
4	chr4:171663610-171663660	AG09309	skin:	n/a
5	chr4:171663610-171663660	SAEC	small airway:	n/a
6	chr4:171663610-171663660	HCM	heart:	n/a
7	chr4:171663610-171663660	HAEpiC	amniotic membrane:	n/a
8	chr4:171663610-171663660	HL-60	blood:	n/a
9	chr4:171663610-171663660	AG04449	skin:	fetal
10	chr4:171663610-171663660	LNCaP	prostate:	n/a
11	chr4:171663610-171663660	AG09319	gingival:	n/a
12	chr4:171663610-171663660	HCF	heart:	n/a
13	chr4:171663610-171663660	MCF-7	breast:	n/a
14	chr4:171663610-171663660	AoSMC	blood vessel:	n/a
15	chr4:171663610-171663660	GM19239	blood:	n/a
16	chr4:171663610-171663660	IMR90	lung:	fetal
17	chr4:171663610-171663660	GM12892	blood:	n/a
18	chr4:171663610-171663660	GM12878	blood:	n/a
19	chr4:171663610-171663660	HEK293	kidney:	embryo
20	chr4:171663610-171663660	HNPCEpiC	eye:	n/a
21	chr4:171663610-171663660	A549	lung:	n/a
22	chr4:171663610-171663660	PANC-1	pancreas:	n/a
23	chr4:171663610-171663660	ProgFib	skin:	n/a
24	chr4:171663610-171663660	SK-N-SH_RA	brain:	n/a
25	chr4:171663610-171663660	GM12891	blood:	n/a
26	chr4:171663610-171663660	HRPEpiC	eye:	n/a
27	chr4:171663610-171663660	SKMC	muscle:	n/a
28	chr4:171663610-171663660	BE2_C	brain:	n/a
29	chr4:171663610-171663660	HPAEpiC	pulmonary alveolar:	n/a
30	chr4:171663610-171663660	K562	blood:	n/a
31	chr4:171663610-171663660	HMEC	breast:	n/a
32	chr4:171663610-171663660	T-47D	breast:	n/a
33	chr4:171663610-171663660	SK-N-SH	brain:	n/a
34	chr4:171663610-171663660	PrEC	prostate:	n/a
35	chr4:171663610-171663660	CMK	blood:	n/a
36	chr4:171663610-171663660	HUVEC	blood vessel:	n/a
37	chr4:171663610-171663660	HepG2	liver:	n/a
38	chr4:171663610-171663660	BJ	skin:	n/a
39	chr4:171663610-171663660	PFSK-1	brain:	n/a
40	chr4:171663610-171663660	Hepatocyte	liver:	n/a
41	chr4:171663610-171663660	RPTEC	kidney:	n/a
42	chr4:171663610-171663660	NB4	blood:	n/a
43	chr4:171663610-171663660	ECC-1	luminal epithelium:	n/a
44	chr4:171663610-171663660	GM06990	blood:	n/a
45	chr4:171663610-171663660	HIPEpiC	eye:	n/a
46	chr4:171663610-171663660	U87	brain:	n/a
47	chr4:171663610-171663660	MCF10A-Er-Src	breast:	n/a
48	chr4:171663610-171663660	AG10803	skin:	n/a
49	chr4:171663610-171663660	HCT-116	colon:	n/a
50	chr4:171663610-171663660	Jurkat	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:171671477..171672293-chr4:171774330..171775293,5	MCF-7	breast:
2	chr4:171510484..171511294-chr4:171637729..171638500,2	MCF-7	breast:
3	chr4:171616881..171619381-chr4:171620954..171623355,2	K562	blood:
4	chr4:171515518..171516388-chr4:171637945..171638514,2	MCF-7	breast:
5	chr4:171510470..171511103-chr4:171637783..171638586,3	MCF-7	breast:
6	chr11:104200333..104200963-chr4:171635355..171636168,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AADAT-3	chr4:171663746-171664179	NONHSAT099189
2	lnc-AADAT-3	chr4:171664816-171664869	XLOC_004157
3	lnc-AADAT-3	chr4:171663620-171664179	XLOC_004157
4	lnc-AADAT-3	chr4:171663302-171663311	NONHSAT099189
5	lnc-AADAT-3	chr4:171664816-171664886	NONHSAT099189

Variant related genes	Relation type
ENSG00000250968	TF binding region
ENSG00000250968	CpG island
KHSRP	miRNA target sites
KEAP1	miRNA target sites

Extended variants
information (count: 1000 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:1000 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11132859	chr4:171620514-171620515	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs374885791	chr4:171620529-171620530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs13145731	chr4:171620531-171620532	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs562658593	chr4:171620537-171620538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs533222559	chr4:171620538-171620539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs116695335	chr4:171620589-171620590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs17730210	chr4:171620596-171620597	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs532870740	chr4:171620600-171620601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs183322903	chr4:171620639-171620640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs549095132	chr4:171620642-171620643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs35432171	chr4:171620682-171620683	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs187968253	chr4:171620685-171620686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs147312343	chr4:171620692-171620693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs569454235	chr4:171620757-171620758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs193058957	chr4:171620780-171620781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs140914453	chr4:171620793-171620794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs183445337	chr4:171620794-171620795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs566722805	chr4:171620812-171620813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs17056002	chr4:171620834-171620835	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs562873944	chr4:171620855-171620856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs555427946	chr4:171620912-171620913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs188102242	chr4:171620915-171620916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs149806822	chr4:171620939-171620940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs556472292	chr4:171620963-171620964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs145748646	chr4:171620985-171620986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs556195640	chr4:171620998-171620999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs34499652	chr4:171621007-171621008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs545276849	chr4:171621142-171621143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs560433711	chr4:171621168-171621169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs148947180	chr4:171621191-171621192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs575830044	chr4:171621193-171621194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs112228250	chr4:171621233-171621234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs386402255	chr4:171621234-171621235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs11395485	chr4:171621235-171621236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs370467583	chr4:171621237-171621238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs367849366	chr4:171621257-171621258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs561172920	chr4:171621258-171621259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs142811294	chr4:171621272-171621273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs571213671	chr4:171621314-171621315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs533503407	chr4:171621315-171621316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs551637479	chr4:171621370-171621371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs566760324	chr4:171621384-171621385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs192683863	chr4:171621389-171621390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs555516050	chr4:171621402-171621403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs184155722	chr4:171621432-171621433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs566622199	chr4:171621455-171621456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs557521142	chr4:171621486-171621487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs538294890	chr4:171621499-171621500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs556321609	chr4:171621514-171621515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs77298298	chr4:171621516-171621517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	17053054	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Neuroblastoma	16790693	CNVD
Developmental delay	22127048	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:171619800-171620600	Weak transcription	Aorta	Aorta
2	chr4:171620400-171621800	Enhancers	GM12878-XiMat	blood
3	chr4:171620600-171620800	Enhancers	Aorta	Aorta
4	chr4:171620800-171624600	Weak transcription	Aorta	Aorta
5	chr4:171621800-171624400	Weak transcription	GM12878-XiMat	blood
6	chr4:171624400-171624800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr4:171624400-171624800	Enhancers	GM12878-XiMat	blood
8	chr4:171624600-171624800	Enhancers	Aorta	Aorta
9	chr4:171640200-171641200	Enhancers	Fetal Kidney	kidney
10	chr4:171641200-171650000	Weak transcription	Fetal Kidney	kidney
11	chr4:171641800-171642000	Active TSS	Primary B cells from cord blood	blood
12	chr4:171642000-171649200	Weak transcription	Primary B cells from cord blood	blood
13	chr4:171649200-171649800	Enhancers	Primary B cells from cord blood	blood
14	chr4:171649600-171651200	Enhancers	GM12878-XiMat	blood
15	chr4:171650000-171650800	Enhancers	Fetal Kidney	kidney
16	chr4:171657400-171657800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr4:171657600-171658400	Enhancers	NHEK	skin
18	chr4:171657600-171658600	Enhancers	HMEC	breast
19	chr4:171658600-171661600	Weak transcription	HMEC	breast
20	chr4:171659200-171663000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr4:171660000-171660200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr4:171661600-171662000	Enhancers	HMEC	breast
23	chr4:171662000-171663000	Weak transcription	HMEC	breast
24	chr4:171662600-171663400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr4:171663000-171663400	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr4:171663000-171663600	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr4:171663000-171663600	Enhancers	HMEC	breast
28	chr4:171663000-171664600	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr4:171663200-171664200	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr4:171663400-171663600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr4:171663400-171663800	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr4:171663400-171664200	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr4:171663400-171664200	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr4:171663600-171664600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr4:171664600-171665000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr4:171671600-171672000	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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