Variant report

Variant	nsv1008704
Chromosome Location	chr2:168153525-168196371
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:168158037..168159768-chr2:168162619..168165474,2	K562	blood:
2	chr13:71965413..71965933-chr2:168183503..168184104,2	MCF-7	breast:
3	chr2:168145007..168147502-chr2:168153038..168154565,2	K562	blood:
4	chr1:144532837..144535320-chr2:168191058..168192558,2	K562	blood:
5	chr2:168158037..168159768-chr2:168162619..168165474,2	K562	blood:
6	chr1:144532923..144535291-chr2:168191058..168192578,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-STK39-6	chr2:168153621-168153899	NONHSAT075310
2	lnc-STK39-6	chr2:168153906-168153917	NONHSAT075310

No data

Variant related genes	Relation type
ENSG00000201699	chromatin interactions

Extended variants
information (count: 1465 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:1465 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138663191	chr2:168153537-168153538	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs141847975	chr2:168153555-168153556	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs113761478	chr2:168153567-168153568	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs192480954	chr2:168153571-168153572	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs574593024	chr2:168153621-168153622	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs375314150	chr2:168153650-168153651	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs554056790	chr2:168153667-168153668	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs563947056	chr2:168153715-168153716	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs201192242	chr2:168153744-168153745	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs112005019	chr2:168153783-168153784	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs546504144	chr2:168153784-168153785	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs200712658	chr2:168153904-168153905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564174278	chr2:168153905-168153906	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs375853574	chr2:168153906-168153907	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs57035238	chr2:168153917-168153918	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs531770202	chr2:168153957-168153958	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185040001	chr2:168153968-168153969	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189894355	chr2:168154019-168154020	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs193045549	chr2:168154023-168154024	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528446163	chr2:168154030-168154031	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571905209	chr2:168154035-168154036	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568159916	chr2:168154052-168154053	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs62197397	chr2:168154053-168154054	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530666160	chr2:168154060-168154061	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs146255072	chr2:168154066-168154067	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547728474	chr2:168154100-168154101	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs4315485	chr2:168154122-168154123	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs371828184	chr2:168154126-168154127	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571563144	chr2:168154174-168154175	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs199938094	chr2:168154176-168154177	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs536718349	chr2:168154314-168154315	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs185214545	chr2:168154315-168154316	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs189677707	chr2:168154343-168154344	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs117750857	chr2:168154351-168154352	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs113117342	chr2:168154398-168154399	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs553194497	chr2:168154463-168154464	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566437094	chr2:168154481-168154482	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534651052	chr2:168154567-168154568	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554588741	chr2:168154618-168154619	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574580809	chr2:168154667-168154668	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs34802912	chr2:168154673-168154674	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs138031785	chr2:168154677-168154678	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs60102532	chr2:168154707-168154708	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs538025679	chr2:168154717-168154718	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs528559233	chr2:168154751-168154752	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536077969	chr2:168154753-168154754	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113459814	chr2:168154787-168154788	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs79751627	chr2:168154805-168154806	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557817594	chr2:168154814-168154815	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs78125079	chr2:168154848-168154849	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:48)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	18414403	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Neonatal seizures	20384724	CNVD
severe myoclonic epilepsy of infancy	18294202	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Schizophrenia	21346763	CNVD

Chromatin state (count:256 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:168151400-168163600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:168151800-168153600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr2:168151800-168154000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr2:168152000-168155600	Weak transcription	Brain Anterior Caudate	brain
5	chr2:168152000-168174400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:168152600-168154000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr2:168152600-168160400	Weak transcription	Psoas Muscle	Psoas
8	chr2:168152600-168167000	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr2:168152800-168153800	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr2:168152800-168155800	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr2:168153000-168155000	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr2:168153200-168154000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:168153200-168154600	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr2:168153200-168155000	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr2:168153400-168154600	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr2:168153600-168154600	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr2:168153800-168154200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr2:168154000-168154200	Enhancers	H1 Cell Line	embryonic stem cell
19	chr2:168154000-168154200	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr2:168154000-168154400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr2:168154200-168154400	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
22	chr2:168154200-168154800	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr2:168154200-168157600	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr2:168154400-168173600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr2:168154600-168155600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr2:168154600-168156800	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr2:168154600-168159800	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr2:168154800-168165800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr2:168155000-168155400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr2:168155000-168155600	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr2:168155400-168155600	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr2:168155600-168155800	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr2:168155600-168155800	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr2:168155600-168155800	Enhancers	Brain Anterior Caudate	brain
35	chr2:168155600-168159800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr2:168156800-168157200	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr2:168157200-168163000	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr2:168157800-168158000	Enhancers	H1 Cell Line	embryonic stem cell
39	chr2:168159800-168160200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
40	chr2:168159800-168160400	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr2:168160200-168164800	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr2:168160400-168160600	Active TSS	Psoas Muscle	Psoas
43	chr2:168160400-168165000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr2:168163000-168163400	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr2:168163400-168165600	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr2:168164800-168167400	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr2:168165000-168167600	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr2:168165600-168167800	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr2:168165800-168166000	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr2:168166000-168166400	Weak transcription	iPS-18 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links