Variant report

Variant	nsv442475
Chromosome Location	chr19:56859584-56864832
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	ARID3A	chr19:56861841-56862087	K562	blood:	n/a	n/a
2	ARID3A	chr19:56861841-56862098	HepG2	liver:	n/a	n/a
3	ARID3A	chr19:56859692-56859938	K562	blood:	n/a	n/a
4	ATF1	chr19:56861870-56862141	K562	blood:	n/a	n/a
5	BHLHE40	chr19:56861839-56862108	GM12878	blood:	n/a	n/a
6	CBX3	chr19:56859647-56860104	K562	blood:	n/a	n/a
7	CBX3	chr19:56861759-56862199	K562	blood:	n/a	n/a
8	CEBPB	chr19:56861856-56862111	MCF-7	breast:	n/a	n/a
9	CEBPB	chr19:56861866-56862166	Hela-S3	cervix:	n/a	n/a
10	CEBPB	chr19:56861840-56862188	K562	blood:	n/a	n/a
11	CEBPB	chr19:56864074-56864274	HepG2	liver:	n/a	n/a
12	CTCF	chr19:56861774-56862121	T-47D	breast:	n/a	chr19:56862006-56862024 chr19:56862001-56862022 chr19:56862007-56862023
13	CTCF	chr19:56861940-56862090	HPF	lung:	n/a	chr19:56862006-56862024 chr19:56862001-56862022 chr19:56862007-56862023
14	CTCF	chr19:56862293-56862393	NHEK	skin:	n/a	n/a
15	CTCF	chr19:56859710-56859953	Gliobla	brain:	n/a	n/a
16	CTCF	chr19:56861860-56862010	HMEC	breast:	n/a	n/a
17	CTCF	chr19:56861880-56862030	K562	blood:	n/a	chr19:56862006-56862024 chr19:56862001-56862022 chr19:56862007-56862023
18	CTCF	chr19:56861920-56862070	GM12872	blood:	n/a	chr19:56862006-56862024 chr19:56862001-56862022 chr19:56862007-56862023
19	CTCF	chr19:56859811-56859906	GM19238	blood:	n/a	n/a
20	CTCF	chr19:56859780-56859930	HEEpiC	esophagus:	n/a	n/a
21	CTCF	chr19:56859780-56859930	GM12875	blood:	n/a	n/a
22	CTCF	chr19:56859800-56859950	AG04450	lung:	n/a	n/a
23	CTCF	chr19:56861960-56862110	GM12869	blood:	n/a	chr19:56862006-56862024 chr19:56862001-56862022 chr19:56862007-56862023
24	CTCF	chr19:56861940-56862090	HL-60	blood:	n/a	chr19:56862006-56862024 chr19:56862001-56862022 chr19:56862007-56862023
25	CTCF	chr19:56861960-56862110	HRPEpiC	eye:	n/a	chr19:56862006-56862024 chr19:56862001-56862022 chr19:56862007-56862023
26	CTCF	chr19:56859780-56859930	GM12872	blood:	n/a	n/a
27	CTCF	chr19:56861937-56862112	GM20000	blood:	n/a	chr19:56862006-56862024 chr19:56862001-56862022 chr19:56862007-56862023
28	CTCF	chr19:56859780-56859930	HCPEpiC	choroid plexus:	n/a	n/a
29	CTCF	chr19:56861920-56862070	SK-N-SH_RA	brain:	n/a	chr19:56862006-56862024 chr19:56862001-56862022 chr19:56862007-56862023
30	CTCF	chr19:56861880-56862030	GM12868	blood:	n/a	chr19:56862006-56862024 chr19:56862001-56862022 chr19:56862007-56862023
31	CTCF	chr19:56859780-56859930	GM12867	blood:	n/a	n/a
32	CTCF	chr19:56859480-56859630	GM12872	blood:	n/a	n/a
33	CTCF	chr19:56861797-56862176	HepG2	liver:	n/a	chr19:56862006-56862024 chr19:56862001-56862022 chr19:56862007-56862023
34	CTCF	chr19:56861896-56862159	Hela-S3	cervix:	n/a	chr19:56862006-56862024 chr19:56862001-56862022 chr19:56862007-56862023
35	CTCF	chr19:56861960-56862110	GM12867	blood:	n/a	chr19:56862006-56862024 chr19:56862001-56862022 chr19:56862007-56862023
36	CTCF	chr19:56859660-56859810	HFF	foreskin:	n/a	n/a
37	CTCF	chr19:56859760-56859910	GM12869	blood:	n/a	n/a
38	CTCF	chr19:56861920-56862070	NB4	blood:	n/a	chr19:56862006-56862024 chr19:56862001-56862022 chr19:56862007-56862023
39	CTCF	chr19:56859780-56859930	GM12870	blood:	n/a	n/a
40	CTCF	chr19:56859635-56859972	H1-hESC	embryonic stem cell:	n/a	n/a
41	CTCF	chr19:56861896-56862144	Gliobla	brain:	n/a	chr19:56862006-56862024 chr19:56862001-56862022 chr19:56862007-56862023
42	CTCF	chr19:56859760-56859910	HMF	breast:	n/a	n/a
43	CTCF	chr19:56862339-56862376	GM10266	blood:	n/a	n/a
44	CTCF	chr19:56862281-56862397	GM12892	blood:	n/a	n/a
45	CTCF	chr19:56862100-56862250	WI-38	lung:	n/a	n/a
46	CTCF	chr19:56861940-56862090	HBMEC	blood vessel:	n/a	chr19:56862006-56862024 chr19:56862001-56862022 chr19:56862007-56862023
47	CTCF	chr19:56861880-56862030	GM12878	blood:	n/a	chr19:56862006-56862024 chr19:56862001-56862022 chr19:56862007-56862023
48	CTCF	chr19:56859820-56859970	NHEK	skin:	n/a	n/a
49	CTCF	chr19:56861940-56862090	HRE	kidney:	n/a	chr19:56862006-56862024 chr19:56862001-56862022 chr19:56862007-56862023
50	CTCF	chr19:56861880-56862030	HFF	foreskin:	n/a	chr19:56862006-56862024 chr19:56862001-56862022 chr19:56862007-56862023

No.	Distal block	Cell Line	Cell type
1	chr19:56587879..56588429-chr19:56861518..56862050,2	MCF-7	breast:
2	chr19:56821792..56823459-chr19:56860076..56862047,2	K562	blood:
3	chr19:56861231..56863974-chr19:56864374..56866865,3	K562	blood:
4	chr19:56825650..56827475-chr19:56859296..56861906,3	K562	blood:
5	chr19:56861231..56864651-chr19:56864910..56868187,3	K562	blood:
6	chr19:56821112..56821613-chr19:56861782..56862434,2	K562	blood:
7	chr19:56668300..56669866-chr19:56860009..56861949,2	K562	blood:
8	chr19:56861231..56863974-chr19:56864374..56866865,3	K562	blood:

Variant related genes	Relation type
ENSG00000267429	TF binding region
ENSG00000266932	TF binding region
ENSG00000267549	chromatin interactions
ENSG00000167685	chromatin interactions
ENSG00000131848	chromatin interactions

Extended variants
information (count: 180 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:180 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12608516	chr19:56859586-56859587	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs552851200	chr19:56859597-56859598	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs559950972	chr19:56859628-56859629	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs116557006	chr19:56859664-56859665	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs551526852	chr19:56859676-56859677	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs77829892	chr19:56859695-56859696	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs181148166	chr19:56859716-56859717	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs141931507	chr19:56859717-56859718	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs185931439	chr19:56859729-56859730	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs567546201	chr19:56859764-56859765	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs536610331	chr19:56859768-56859769	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs112620730	chr19:56859799-56859800	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs553093081	chr19:56859812-56859813	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs574594629	chr19:56859836-56859837	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs572273521	chr19:56859886-56859887	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs147749320	chr19:56859890-56859891	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs557967291	chr19:56859908-56859909	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs577939476	chr19:56859912-56859913	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs12608852	chr19:56859928-56859929	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs73937242	chr19:56860031-56860032	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs368059189	chr19:56860058-56860059	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs542581100	chr19:56860114-56860115	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs559103767	chr19:56860214-56860215	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs528745829	chr19:56860217-56860218	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs116824582	chr19:56860231-56860232	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs565136251	chr19:56860232-56860233	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs560198246	chr19:56860233-56860234	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs146097044	chr19:56860299-56860300	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs60371508	chr19:56860361-56860362	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs113279150	chr19:56860395-56860396	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs550905979	chr19:56860403-56860404	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs567702595	chr19:56860442-56860443	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs565499328	chr19:56860463-56860464	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs546936613	chr19:56860471-56860472	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs566784481	chr19:56860586-56860587	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs374241611	chr19:56860614-56860615	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs73628723	chr19:56860618-56860619	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs571456917	chr19:56860673-56860674	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs190394610	chr19:56860735-56860736	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs556898698	chr19:56860739-56860740	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs528079767	chr19:56860774-56860775	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs10411000	chr19:56860788-56860789	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs573647407	chr19:56860792-56860793	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs372434420	chr19:56860794-56860795	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs150239359	chr19:56860831-56860832	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs576789850	chr19:56860836-56860837	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs547871028	chr19:56860837-56860838	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs552912370	chr19:56860847-56860848	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs572552107	chr19:56860862-56860863	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs138915592	chr19:56860864-56860865	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian cancer	22174824	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Wilms tumour	21544195	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Congenital anomalies of the kidney and urinary tract	18852474	CNVD
Glioblastoma multiforme	17002787	CNVD
Cervical cancer	21062161	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	16573809	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Alzheimer''s disease	22166940	CNVD
Heart disease	21282601	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Glioblastoma multiforme	21922591	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56854200-56863200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr19:56855000-56870200	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr19:56856600-56859600	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr19:56857600-56859600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr19:56859200-56859600	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr19:56859200-56859800	Enhancers	H1 Cell Line	embryonic stem cell
7	chr19:56859200-56859800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr19:56859200-56859800	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr19:56859200-56860000	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr19:56859400-56859800	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr19:56859400-56860000	Enhancers	K562	blood
12	chr19:56859400-56872800	Weak transcription	Ovary	ovary
13	chr19:56859600-56859800	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr19:56859600-56862400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr19:56859600-56862400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr19:56860000-56862800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr19:56861600-56862000	Enhancers	Colon Smooth Muscle	Colon
18	chr19:56861800-56862000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr19:56862000-56868400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr19:56862400-56863000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr19:56862400-56863400	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr19:56862400-56866400	Weak transcription	Right Atrium	heart
23	chr19:56862800-56863400	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr19:56863000-56872800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr19:56863800-56864000	Enhancers	Brain Substantia Nigra	brain
26	chr19:56863800-56864600	Enhancers	HepG2	liver
27	chr19:56864000-56864400	Enhancers	Brain Hippocampus Middle	brain
28	chr19:56864000-56864400	Weak transcription	Brain Substantia Nigra	brain
29	chr19:56864400-56864600	ZNF genes & repeats	Brain Substantia Nigra	brain
30	chr19:56864400-56864800	ZNF genes & repeats	Liver	Liver
31	chr19:56864600-56865600	Weak transcription	Brain Substantia Nigra	brain
32	chr19:56864600-56865800	Weak transcription	HepG2	liver
33	chr19:56864800-56865400	Weak transcription	Liver	Liver

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