Variant report

Variant	nsv527324
Chromosome Location	chr2:191423989-191427736
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:191398258..191401010-chr2:191424742..191426410,2	MCF-7	breast:
2	chr2:191426756..191429065-chr2:191435879..191437749,2	K562	blood:

Variant related genes	Relation type
ENSG00000189362	chromatin interactions
ENSG00000233654	chromatin interactions

Extended variants
information (count: 126 )
Associated
traits (count: 47 )

Variant overlapped rSNPs/rCNVs (count:126 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6717050	chr2:191423989-191423990	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs573688316	chr2:191424002-191424003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs543812252	chr2:191424055-191424056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577734960	chr2:191424074-191424075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531427527	chr2:191424099-191424100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555760657	chr2:191424102-191424103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs549645561	chr2:191424120-191424121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575497399	chr2:191424122-191424123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546072074	chr2:191424130-191424131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191164522	chr2:191424133-191424134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs62182863	chr2:191424150-191424151	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs376932603	chr2:191424171-191424172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540863582	chr2:191424205-191424206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553786434	chr2:191424298-191424299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs143885944	chr2:191424308-191424309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs140262854	chr2:191424326-191424327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs144552567	chr2:191424343-191424344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562888321	chr2:191424426-191424427	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533403191	chr2:191424435-191424436	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573757640	chr2:191424436-191424437	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566810026	chr2:191424500-191424501	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs6746195	chr2:191424522-191424523	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs116548917	chr2:191424529-191424530	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567221513	chr2:191424544-191424545	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184720819	chr2:191424583-191424584	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs147425713	chr2:191424595-191424596	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555874847	chr2:191424638-191424639	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs139712832	chr2:191424730-191424731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs142611430	chr2:191424741-191424742	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371201126	chr2:191424788-191424789	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs542733432	chr2:191424882-191424883	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs558019823	chr2:191424917-191424918	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs10179262	chr2:191424949-191424950	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs540426747	chr2:191424979-191424980	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs374992292	chr2:191425016-191425017	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs562331828	chr2:191425022-191425023	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs574017203	chr2:191425045-191425046	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs556360408	chr2:191425055-191425056	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs62182864	chr2:191425089-191425090	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs34826876	chr2:191425118-191425119	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs563002216	chr2:191425149-191425150	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs56123211	chr2:191425196-191425197	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs551806289	chr2:191425212-191425213	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs150973085	chr2:191425354-191425355	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs140991580	chr2:191425357-191425358	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs149790974	chr2:191425417-191425418	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs567438268	chr2:191425472-191425473	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs370990804	chr2:191425489-191425490	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs13398741	chr2:191425565-191425566	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs112531147	chr2:191425571-191425572	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:47)

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
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	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
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Ovarian cancer	21720365	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Colorectal cancer	16912164	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191411000-191443000	Weak transcription	Right Atrium	heart
2	chr2:191417600-191427800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:191418000-191427000	Weak transcription	Pancreas	Pancrea
4	chr2:191418200-191426800	Weak transcription	Primary T cells from cord blood	blood
5	chr2:191419600-191424400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr2:191419600-191424400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:191419600-191426800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr2:191419600-191427400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:191419800-191424600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:191423600-191424600	Weak transcription	Left Ventricle	heart
11	chr2:191424400-191424600	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr2:191424400-191424800	Enhancers	H1 Cell Line	embryonic stem cell
13	chr2:191424400-191424800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr2:191424600-191424800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr2:191424600-191424800	Enhancers	Left Ventricle	heart
16	chr2:191424600-191426000	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr2:191424600-191427000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr2:191424800-191427000	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr2:191424800-191427000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr2:191424800-191427000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr2:191424800-191427000	Weak transcription	Left Ventricle	heart
22	chr2:191425400-191426200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:191425800-191427200	Enhancers	Fetal Intestine Large	intestine
24	chr2:191425800-191427200	Enhancers	Fetal Intestine Small	intestine
25	chr2:191425800-191428600	Enhancers	Stomach Mucosa	stomach
26	chr2:191426000-191427200	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr2:191426000-191427200	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr2:191426000-191428800	Enhancers	K562	blood
29	chr2:191426200-191426400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr2:191426200-191427000	Enhancers	Brain Angular Gyrus	brain
31	chr2:191426200-191427200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr2:191426200-191427200	Enhancers	Duodenum Mucosa	Duodenum
33	chr2:191426200-191428600	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr2:191426400-191429600	Enhancers	Fetal Heart	heart
35	chr2:191426600-191427400	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr2:191426600-191427400	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr2:191426600-191428000	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr2:191426800-191427200	Enhancers	H9 Cell Line	embryonic stem cell
39	chr2:191426800-191427200	Enhancers	Right Ventricle	heart
40	chr2:191426800-191427400	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr2:191426800-191427800	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr2:191426800-191428000	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr2:191426800-191428200	Enhancers	Primary T cells from cord blood	blood
44	chr2:191426800-191428200	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr2:191427000-191427200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr2:191427000-191427200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr2:191427000-191427200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr2:191427000-191427200	Enhancers	Pancreas	Pancrea
49	chr2:191427000-191427400	Enhancers	Left Ventricle	heart
50	chr2:191427000-191428200	Enhancers	H1 Cell Line	embryonic stem cell

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