Variant report

Variant	nsv1023899
Chromosome Location	chr7:26113797-26165986
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:105)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:105 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr7:26126882..26129598-chr7:26130419..26133130,2	K562	blood:
2	chr7:26122995..26125751-chr7:26126126..26128926,3	K562	blood:
3	chr7:26129819..26132653-chr7:26238402..26240487,3	K562	blood:
4	chr7:26138953..26140614-chr7:26142057..26143746,2	K562	blood:
5	chr7:26126507..26129554-chr7:26238695..26242281,4	K562	blood:
6	chr7:26123870..26125696-chr7:26226783..26229178,2	MCF-7	breast:
7	chr7:26126882..26129598-chr7:26130419..26133130,2	K562	blood:
8	chr7:26110644..26115952-chr7:26225900..26230055,7	K562	blood:
9	chr7:26122079..26124239-chr7:26127253..26128768,2	MCF-7	breast:
10	chr7:26120079..26121816-chr7:26128176..26130468,2	K562	blood:
11	chr7:26135136..26138294-chr7:26144321..26146577,5	MCF-7	breast:
12	chr7:26154735..26157147-chr7:26157235..26160704,3	K562	blood:
13	chr7:26112324..26114738-chr7:26221263..26223725,2	MCF-7	breast:
14	chr7:26121372..26122991-chr7:26241151..26242996,2	MCF-7	breast:
15	chr7:26116496..26120025-chr7:26124167..26127570,3	MCF-7	breast:
16	chr7:26159263..26161124-chr7:26165341..26167327,2	MCF-7	breast:
17	chr7:26122904..26124526-chr7:26129160..26131846,3	MCF-7	breast:
18	chr7:26122904..26124526-chr7:26129160..26131846,3	MCF-7	breast:
19	chr7:26123460..26125747-chr7:26131738..26134099,3	K562	blood:
20	chr7:26111985..26114950-chr7:26225900..26229450,4	K562	blood:
21	chr7:26127526..26133053-chr7:26238305..26241600,7	MCF-7	breast:
22	chr7:26109451..26111180-chr7:26113272..26116179,2	MCF-7	breast:
23	chr7:26130005..26132099-chr7:26191209..26193646,2	MCF-7	breast:
24	chr7:26140097..26142166-chr7:26224742..26227594,2	K562	blood:
25	chr7:26152221..26157308-chr7:26225005..26229751,7	K562	blood:
26	chr7:26161276..26164225-chr7:26165809..26167407,2	K562	blood:
27	chr7:26129160..26135245-chr7:26236399..26242372,9	MCF-7	breast:
28	chr7:26122995..26125751-chr7:26126126..26128926,3	K562	blood:
29	chr7:26156563..26159032-chr7:26159643..26162118,2	K562	blood:
30	chr7:26149910..26152831-chr7:26237358..26241131,4	MCF-7	breast:
31	chr7:26116496..26120025-chr7:26124167..26127570,3	MCF-7	breast:
32	chr7:26130393..26131271-chr7:26404507..26405104,2	K562	blood:
33	chr7:26121331..26123679-chr7:26220972..26223224,2	MCF-7	breast:
34	chr7:26130771..26133250-chr7:26224106..26227853,3	MCF-7	breast:
35	chr7:26135136..26138294-chr7:26144321..26146577,5	MCF-7	breast:
36	chr7:26135924..26137855-chr7:26144469..26146230,4	MCF-7	breast:
37	chr7:26160131..26162797-chr7:26164684..26167224,2	K562	blood:
38	chr7:26127085..26136794-chr7:26224123..26230309,16	K562	blood:
39	chr22:49929400..49929920-chr7:26140865..26141585,2	NB4	blood:
40	chr7:26120586..26123734-chr7:26238945..26240638,3	MCF-7	breast:
41	chr7:26114537..26124611-chr7:26235125..26244089,23	MCF-7	breast:
42	chr7:26111175..26113730-chr7:26115998..26118801,2	MCF-7	breast:
43	chr7:26117592..26119094-chr7:26231606..26233177,2	MCF-7	breast:
44	chr7:26126753..26129598-chr7:26130419..26132828,3	K562	blood:
45	chr7:26121029..26121778-chr7:26237338..26237969,2	MCF-7	breast:
46	chr7:26155883..26157499-chr7:26239011..26240602,2	MCF-7	breast:
47	chr7:26133229..26135657-chr7:26144514..26146950,2	MCF-7	breast:
48	chr7:26120211..26123074-chr7:26126513..26128042,2	MCF-7	breast:
49	chr7:26123460..26125747-chr7:26131738..26134099,3	K562	blood:
50	chr7:25989381..25991698-chr7:26116313..26118529,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HNRNPA2B1-9	chr7:26134420-26134615	l_3383_chr7:26064190-26136923_testes
2	lnc-HNRNPA2B1-9	chr7:26136736-26136923	l_3383_chr7:26064190-26136923_testes

No data

Variant related genes	Relation type
ENSG00000122566	chromatin interactions
ENSG00000199085	chromatin interactions
ENSG00000086300	chromatin interactions
ENSG00000050344	chromatin interactions
ENSG00000122565	chromatin interactions

Extended variants
information (count: 1839 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:1839 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138753345	chr7:26113827-26113828	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs193288720	chr7:26113844-26113845	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs35610994	chr7:26113878-26113879	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs555633121	chr7:26113886-26113887	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs140178905	chr7:26113916-26113917	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs544154172	chr7:26113921-26113922	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs564262568	chr7:26113961-26113962	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs578021939	chr7:26114010-26114011	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs150314214	chr7:26114041-26114042	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs560326557	chr7:26114063-26114064	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs112208425	chr7:26114065-26114066	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs28611070	chr7:26114079-26114080	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs575342241	chr7:26114086-26114087	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs556142245	chr7:26114190-26114191	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs199959564	chr7:26114196-26114197	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs561740771	chr7:26114269-26114270	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs80205752	chr7:26114442-26114443	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs571140406	chr7:26114449-26114450	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs185478147	chr7:26114660-26114661	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs574113853	chr7:26114667-26114668	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs188060107	chr7:26114672-26114673	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs543225753	chr7:26114676-26114677	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs60195958	chr7:26114691-26114692	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs547171967	chr7:26114750-26114751	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs77439408	chr7:26114836-26114837	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs113993416	chr7:26114919-26114920	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs192289946	chr7:26114974-26114975	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs74507046	chr7:26114983-26114984	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs537867015	chr7:26115022-26115023	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs557767543	chr7:26115080-26115081	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs577938102	chr7:26115087-26115088	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs545318878	chr7:26115135-26115136	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs73683223	chr7:26115140-26115141	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs530853370	chr7:26115149-26115150	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs184031091	chr7:26115166-26115167	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs577575300	chr7:26115167-26115168	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs565805271	chr7:26115176-26115177	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs562784515	chr7:26115233-26115234	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs372485628	chr7:26115234-26115235	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs188424952	chr7:26115260-26115261	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs34480474	chr7:26115271-26115272	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs386409743	chr7:26115273-26115274	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs59582351	chr7:26115279-26115280	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs545300567	chr7:26115287-26115288	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs11978583	chr7:26115389-26115390	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs199724172	chr7:26115394-26115395	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs200412186	chr7:26115395-26115396	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs527279740	chr7:26115424-26115425	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs181583395	chr7:26115452-26115453	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs567205152	chr7:26115466-26115467	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Lung adenocarcinoma	17086460	CNVD
Colorectal cancer	19455253	CNVD
Lung cancer	17086460	CNVD
Breast cancer	18852474	CNVD
Pancreatic cancer	17952125	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:803 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26112600-26118200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:26113000-26114000	Enhancers	HepG2	liver
3	chr7:26113000-26118000	Weak transcription	Fetal Thymus	thymus
4	chr7:26113200-26118400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr7:26113200-26118400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr7:26113200-26118400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr7:26113200-26118400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr7:26113200-26118400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr7:26113200-26118400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr7:26113200-26118400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:26113400-26114600	Weak transcription	K562	blood
12	chr7:26113400-26118400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:26114000-26114400	Weak transcription	HepG2	liver
14	chr7:26114400-26115600	Enhancers	HepG2	liver
15	chr7:26114600-26115000	Enhancers	Fetal Intestine Small	intestine
16	chr7:26114600-26115000	Enhancers	K562	blood
17	chr7:26114800-26117000	Enhancers	Fetal Intestine Large	intestine
18	chr7:26115000-26116200	Weak transcription	Fetal Intestine Small	intestine
19	chr7:26115600-26118800	Weak transcription	HepG2	liver
20	chr7:26116200-26117000	Enhancers	Fetal Intestine Small	intestine
21	chr7:26116600-26116800	Enhancers	Duodenum Mucosa	Duodenum
22	chr7:26116600-26116800	Bivalent Enhancer	Small Intestine	intestine
23	chr7:26117000-26118000	Weak transcription	Fetal Intestine Large	intestine
24	chr7:26117000-26118200	Weak transcription	Fetal Intestine Small	intestine
25	chr7:26118000-26118600	Enhancers	Rectal Mucosa Donor 29	rectum
26	chr7:26118000-26118800	Active TSS	Rectal Smooth Muscle	rectum
27	chr7:26118000-26118800	Bivalent Enhancer	Dnd41	blood
28	chr7:26118000-26119000	Bivalent Enhancer	Fetal Stomach	stomach
29	chr7:26118000-26119200	Enhancers	Fetal Intestine Large	intestine
30	chr7:26118000-26119400	Enhancers	Fetal Thymus	thymus
31	chr7:26118200-26118400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr7:26118200-26118400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr7:26118200-26118400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr7:26118200-26118400	Enhancers	Brain Germinal Matrix	brain
35	chr7:26118200-26118400	Enhancers	Fetal Intestine Small	intestine
36	chr7:26118200-26119000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr7:26118200-26119200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
38	chr7:26118200-26119600	Bivalent Enhancer	Colon Smooth Muscle	Colon
39	chr7:26118400-26118600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr7:26118400-26118600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
41	chr7:26118400-26118600	Enhancers	Fetal Brain Male	brain
42	chr7:26118400-26118800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr7:26118400-26118800	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr7:26118400-26118800	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr7:26118400-26118800	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr7:26118400-26118800	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr7:26118400-26118800	Bivalent Enhancer	Primary B cells from cord blood	blood
48	chr7:26118400-26118800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
49	chr7:26118400-26118800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr7:26118400-26118800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--

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