Variant report

Variant	esv1796358
Chromosome Location	chr7:26130504-26154110
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:44)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:44 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:26149919..26152511-chr7:26155274..26157717,3	K562	blood:
2	chr7:26152455..26156873-chr7:26226826..26229761,5	K562	blood:
3	chr7:26135924..26137855-chr7:26144469..26146230,4	MCF-7	breast:
4	chr7:26130355..26130891-chr7:26404343..26405006,2	MCF-7	breast:
5	chr7:26123460..26125747-chr7:26131738..26134099,3	K562	blood:
6	chr7:26134385..26136107-chr7:26239301..26241163,2	K562	blood:
7	chr7:26129567..26132077-chr7:26220760..26223665,4	MCF-7	breast:
8	chr7:26129160..26135245-chr7:26236399..26242372,9	MCF-7	breast:
9	chr7:26131775..26133485-chr7:26328887..26331564,2	K562	blood:
10	chr7:26135924..26137855-chr7:26144469..26146230,4	MCF-7	breast:
11	chr7:26130393..26131271-chr7:26404507..26405104,2	K562	blood:
12	chr7:26127085..26136794-chr7:26224123..26230309,16	K562	blood:
13	chr7:26135136..26138294-chr7:26144321..26146577,5	MCF-7	breast:
14	chr7:26152221..26157308-chr7:26225005..26229751,7	K562	blood:
15	chr7:26138953..26140614-chr7:26142057..26143746,2	K562	blood:
16	chr7:26130771..26133250-chr7:26224106..26227853,3	MCF-7	breast:
17	chr7:26133229..26135657-chr7:26144514..26146950,2	MCF-7	breast:
18	chr7:26131124..26132975-chr7:26134853..26136801,2	K562	blood:
19	chr7:26127176..26132084-chr7:26132908..26137367,5	K562	blood:
20	chr7:26134161..26136379-chr7:26242320..26244096,2	K562	blood:
21	chr7:26138953..26140614-chr7:26142057..26143746,2	K562	blood:
22	chr7:26126033..26128739-chr7:26129365..26131958,3	MCF-7	breast:
23	chr7:26136960..26140512-chr7:26226454..26229545,3	K562	blood:
24	chr7:26131124..26132975-chr7:26134853..26136801,2	K562	blood:
25	chr7:26130269..26131203-chr7:26324356..26325072,3	K562	blood:
26	chr7:26127526..26133053-chr7:26238305..26241600,7	MCF-7	breast:
27	chr7:26126882..26129598-chr7:26130419..26133130,2	K562	blood:
28	chr7:26140097..26142166-chr7:26224742..26227594,2	K562	blood:
29	chr7:26126753..26129598-chr7:26130419..26132828,3	K562	blood:
30	chr7:26127176..26132084-chr7:26132908..26137367,5	K562	blood:
31	chr7:26135136..26138294-chr7:26144321..26146577,5	MCF-7	breast:
32	chr7:26130005..26132099-chr7:26191209..26193646,2	MCF-7	breast:
33	chr7:26129819..26132653-chr7:26238402..26240487,3	K562	blood:
34	chr7:26146073..26148941-chr7:26224609..26227830,4	K562	blood:
35	chr7:26125161..26128089-chr7:26129488..26132458,4	MCF-7	breast:
36	chr7:26133229..26135657-chr7:26144514..26146950,2	MCF-7	breast:
37	chr7:26145169..26147608-chr7:26224836..26227830,4	K562	blood:
38	chr7:26122904..26124526-chr7:26129160..26131846,3	MCF-7	breast:
39	chr7:26148861..26152196-chr7:26192517..26195999,3	K562	blood:
40	chr7:26117990..26136794-chr7:26219781..26234338,53	K562	blood:
41	chr22:49929400..49929920-chr7:26140865..26141585,2	NB4	blood:
42	chr12:53436002..53436502-chr7:26140425..26141348,2	NB4	blood:
43	chr7:26129244..26131736-chr7:26219781..26221965,2	K562	blood:
44	chr7:26149910..26152831-chr7:26237358..26241131,4	MCF-7	breast:

(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
ENSG00000086300	chromatin interactions
ENSG00000050344	chromatin interactions
ENSG00000122566	chromatin interactions
ENSG00000122565	chromatin interactions

Extended variants
information (count: 827 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:827 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184475264	chr7:26130527-26130528	Flanking Active TSS Enhancers Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs189404674	chr7:26130653-26130654	Flanking Active TSS Enhancers Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs571704034	chr7:26130668-26130669	Flanking Active TSS Enhancers Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs534414960	chr7:26130708-26130709	Flanking Active TSS Enhancers Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs554607511	chr7:26130765-26130766	Flanking Active TSS Enhancers Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs74453480	chr7:26130790-26130791	Flanking Active TSS Enhancers Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs62446309	chr7:26130813-26130814	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs543176370	chr7:26130933-26130934	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs80151681	chr7:26130983-26130984	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs369911333	chr7:26131037-26131038	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs576717390	chr7:26131038-26131039	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs545715849	chr7:26131041-26131042	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs542627647	chr7:26131063-26131064	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs7793753	chr7:26131087-26131088	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs376797169	chr7:26131165-26131166	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs527647430	chr7:26131184-26131185	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs547928064	chr7:26131192-26131193	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs200459474	chr7:26131205-26131206	Weak transcription Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs561407880	chr7:26131219-26131220	Weak transcription Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs572959990	chr7:26131226-26131227	Weak transcription Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs181439845	chr7:26131252-26131253	Weak transcription Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs548927097	chr7:26131316-26131317	Weak transcription Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs184879807	chr7:26131336-26131337	Weak transcription Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs552004765	chr7:26131347-26131348	Weak transcription Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs565345734	chr7:26131353-26131354	Weak transcription Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs188955606	chr7:26131377-26131378	Weak transcription Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs181399510	chr7:26131415-26131416	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs554387947	chr7:26131417-26131418	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs75175704	chr7:26131513-26131514	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs144116722	chr7:26131599-26131600	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs139815462	chr7:26131616-26131617	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs576664193	chr7:26131633-26131634	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs545151216	chr7:26131686-26131687	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs76638006	chr7:26131706-26131707	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs143124750	chr7:26131768-26131769	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs141295290	chr7:26131806-26131807	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs75989447	chr7:26131813-26131814	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs369453610	chr7:26131885-26131886	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs541465341	chr7:26131902-26131903	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs533615828	chr7:26132000-26132001	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs112999183	chr7:26132103-26132104	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs2158363	chr7:26132109-26132110	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs567407873	chr7:26132181-26132182	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs550003595	chr7:26132192-26132193	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs114668527	chr7:26132234-26132235	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs532133868	chr7:26132245-26132246	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs113300302	chr7:26132254-26132255	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs190781604	chr7:26132266-26132267	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs543717205	chr7:26132267-26132268	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs565608971	chr7:26132275-26132276	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

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

Chromatin state (count:458 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26119200-26141000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:26122200-26130600	Weak transcription	Duodenum Mucosa	Duodenum
3	chr7:26126000-26130600	Weak transcription	Stomach Mucosa	stomach
4	chr7:26126000-26135800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr7:26127000-26136600	Weak transcription	Fetal Thymus	thymus
6	chr7:26128000-26132400	Weak transcription	HepG2	liver
7	chr7:26128400-26131600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr7:26128600-26130600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr7:26128600-26130800	Weak transcription	HMEC	breast
10	chr7:26128600-26130800	Weak transcription	NHEK	skin
11	chr7:26129000-26131400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr7:26129000-26136400	Weak transcription	Placenta	Placenta
13	chr7:26129800-26136400	Weak transcription	GM12878-XiMat	blood
14	chr7:26130200-26130600	Enhancers	H1 Cell Line	embryonic stem cell
15	chr7:26130200-26130600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr7:26130200-26130600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr7:26130200-26130600	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr7:26130200-26131000	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr7:26130200-26131000	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr7:26130200-26131000	Enhancers	Primary B cells from peripheral blood	blood
21	chr7:26130200-26131000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr7:26130200-26131200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr7:26130200-26131800	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr7:26130400-26130600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr7:26130400-26130600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr7:26130400-26130600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr7:26130400-26130600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr7:26130400-26130600	Flanking Active TSS	Adipose Nuclei	Adipose
29	chr7:26130400-26130600	Enhancers	Brain Anterior Caudate	brain
30	chr7:26130400-26130600	Flanking Active TSS	Brain Hippocampus Middle	brain
31	chr7:26130400-26130600	Enhancers	Dnd41	blood
32	chr7:26130400-26130600	Active TSS	Monocytes-CD14+_RO01746	blood
33	chr7:26130400-26130600	Active TSS	Osteobl	bone
34	chr7:26130400-26130800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
35	chr7:26130400-26130800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
36	chr7:26130400-26130800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
37	chr7:26130400-26130800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
38	chr7:26130400-26130800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
39	chr7:26130400-26130800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr7:26130400-26130800	Flanking Active TSS	Primary hematopoietic stem cells	blood
41	chr7:26130400-26130800	Enhancers	Fetal Lung	lung
42	chr7:26130400-26130800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
43	chr7:26130400-26130800	Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr7:26130400-26130800	Flanking Active TSS	NH-A	brain
45	chr7:26130400-26131000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr7:26130400-26131000	Enhancers	Primary B cells from cord blood	blood
47	chr7:26130400-26131000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr7:26130400-26131000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr7:26130400-26131000	Active TSS	Brain Cingulate Gyrus	brain
50	chr7:26130400-26131000	Enhancers	HUVEC	blood vessel

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