Variant report

Variant	nsv508449
Chromosome Location	chr7:26117275-26161137
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:93)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:93 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr7:26122995..26125751-chr7:26126126..26128926,3	K562	blood:
2	chr7:26133229..26135657-chr7:26144514..26146950,2	MCF-7	breast:
3	chr7:26126882..26129598-chr7:26130419..26133130,2	K562	blood:
4	chr7:26130269..26131203-chr7:26324356..26325072,3	K562	blood:
5	chr7:26152455..26156873-chr7:26226826..26229761,5	K562	blood:
6	chr7:26125058..26127925-chr7:26238815..26242707,3	MCF-7	breast:
7	chr7:26146073..26148941-chr7:26224609..26227830,4	K562	blood:
8	chr7:26135924..26137855-chr7:26144469..26146230,4	MCF-7	breast:
9	chr7:26130005..26132099-chr7:26191209..26193646,2	MCF-7	breast:
10	chr7:26154961..26157764-chr7:26173715..26175460,2	MCF-7	breast:
11	chr7:26124079..26126684-chr7:26237086..26240273,4	MCF-7	breast:
12	chr7:26131124..26132975-chr7:26134853..26136801,2	K562	blood:
13	chr7:26120079..26121816-chr7:26128176..26130468,2	K562	blood:
14	chr22:49929400..49929920-chr7:26140865..26141585,2	NB4	blood:
15	chr7:26126882..26129598-chr7:26130419..26133130,2	K562	blood:
16	chr7:26148861..26152196-chr7:26192517..26195999,3	K562	blood:
17	chr7:25989381..25991698-chr7:26116313..26118529,2	K562	blood:
18	chr7:26122079..26124239-chr7:26127253..26128768,2	MCF-7	breast:
19	chr7:26122995..26125751-chr7:26126126..26128926,3	K562	blood:
20	chr7:26138953..26140614-chr7:26142057..26143746,2	K562	blood:
21	chr7:26130771..26133250-chr7:26224106..26227853,3	MCF-7	breast:
22	chr7:26136960..26140512-chr7:26226454..26229545,3	K562	blood:
23	chr7:26119926..26122266-chr7:26227984..26229588,2	MCF-7	breast:
24	chr7:26145169..26147608-chr7:26224836..26227830,4	K562	blood:
25	chr7:26156563..26159032-chr7:26159643..26162118,2	K562	blood:
26	chr7:26116496..26120025-chr7:26124167..26127570,3	MCF-7	breast:
27	chr7:26120211..26123074-chr7:26126513..26128042,2	MCF-7	breast:
28	chr7:26126519..26129493-chr7:26238695..26242874,4	K562	blood:
29	chr7:26126753..26129598-chr7:26130419..26132828,3	K562	blood:
30	chr7:26121372..26122991-chr7:26241151..26242996,2	MCF-7	breast:
31	chr7:26117592..26119094-chr7:26231606..26233177,2	MCF-7	breast:
32	chr7:26125161..26128089-chr7:26129488..26132458,4	MCF-7	breast:
33	chr7:26126033..26128739-chr7:26129365..26131958,3	MCF-7	breast:
34	chr7:26116496..26120025-chr7:26124167..26127570,3	MCF-7	breast:
35	chr7:26138953..26140614-chr7:26142057..26143746,2	K562	blood:
36	chr7:26140097..26142166-chr7:26224742..26227594,2	K562	blood:
37	chr7:26122863..26125751-chr7:26125996..26128926,3	K562	blood:
38	chr7:26118648..26123140-chr7:26237417..26242169,5	K562	blood:
39	chr7:26117300..26119853-chr7:26222397..26224212,2	MCF-7	breast:
40	chr7:26149919..26152511-chr7:26155274..26157717,3	K562	blood:
41	chr7:26135924..26137855-chr7:26144469..26146230,4	MCF-7	breast:
42	chr7:26152221..26157308-chr7:26225005..26229751,7	K562	blood:
43	chr7:26127085..26136794-chr7:26224123..26230309,16	K562	blood:
44	chr7:26156563..26159032-chr7:26159643..26162118,2	K562	blood:
45	chr7:26120211..26123074-chr7:26126513..26128042,2	MCF-7	breast:
46	chr7:26122863..26125751-chr7:26125996..26128926,3	K562	blood:
47	chr7:26122079..26124239-chr7:26127253..26128768,2	MCF-7	breast:
48	chr7:26126507..26129554-chr7:26238695..26242281,4	K562	blood:
49	chr7:26123460..26125747-chr7:26131738..26134099,3	K562	blood:
50	chr7:26123460..26125747-chr7:26131738..26134099,3	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
ENSG00000050344	chromatin interactions
ENSG00000122566	chromatin interactions
ENSG00000199085	chromatin interactions
ENSG00000086300	chromatin interactions
ENSG00000122565	chromatin interactions

Extended variants
information (count: 1546 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:1546 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12531642	chr7:26117336-26117337	Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs572186446	chr7:26117381-26117382	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs145224602	chr7:26117451-26117452	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs554435552	chr7:26117454-26117455	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs554092196	chr7:26117479-26117480	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs180683558	chr7:26117561-26117562	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs185788083	chr7:26117580-26117581	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs566646858	chr7:26117615-26117616	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs61270415	chr7:26117694-26117695	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs7790015	chr7:26117769-26117770	Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs111541472	chr7:26117783-26117784	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs34905751	chr7:26117787-26117788	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs12673583	chr7:26117790-26117791	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs34099375	chr7:26117833-26117834	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs565384359	chr7:26117891-26117892	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs527877170	chr7:26117902-26117903	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs541368779	chr7:26117914-26117915	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs561518001	chr7:26117926-26117927	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs138296446	chr7:26117935-26117936	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs113441818	chr7:26117969-26117970	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs116532949	chr7:26117984-26117985	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs532391380	chr7:26117998-26117999	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs368197676	chr7:26118027-26118028	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs550166901	chr7:26118043-26118044	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs190112151	chr7:26118053-26118054	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs568472359	chr7:26118054-26118055	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs182622992	chr7:26118091-26118092	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs552640261	chr7:26118115-26118116	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs75999239	chr7:26118132-26118133	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs78852932	chr7:26118133-26118134	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs77129460	chr7:26118134-26118135	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs370687220	chr7:26118148-26118149	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs565779817	chr7:26118185-26118186	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs59896725	chr7:26118192-26118193	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs187093815	chr7:26118221-26118222	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs35788209	chr7:26118225-26118226	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs73091671	chr7:26118272-26118273	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs201409766	chr7:26118287-26118288	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs10277780	chr7:26118315-26118316	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs556564678	chr7:26118316-26118317	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs147653023	chr7:26118326-26118327	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs191574715	chr7:26118361-26118362	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs140583996	chr7:26118364-26118365	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs368706131	chr7:26118388-26118389	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs572554934	chr7:26118487-26118488	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs115188141	chr7:26118489-26118490	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs561585222	chr7:26118525-26118526	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs144236731	chr7:26118530-26118531	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs544107215	chr7:26118583-26118584	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs145468748	chr7:26118606-26118607	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	3 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:791 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

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

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