Variant report

Variant	esv1839667
Chromosome Location	chr7:26127564-26145123
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:52)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:52 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr7:26126519..26129493-chr7:26238695..26242874,4	K562	blood:
2	chr7:26123460..26125747-chr7:26131738..26134099,3	K562	blood:
3	chr7:26134161..26136379-chr7:26242320..26244096,2	K562	blood:
4	chr7:26129567..26132077-chr7:26220760..26223665,4	MCF-7	breast:
5	chr7:26127085..26136794-chr7:26224123..26230309,16	K562	blood:
6	chr7:26130269..26131203-chr7:26324356..26325072,3	K562	blood:
7	chr7:26126033..26128739-chr7:26129365..26131958,3	MCF-7	breast:
8	chr7:26126305..26129045-chr7:26235519..26238243,2	MCF-7	breast:
9	chr7:26134385..26136107-chr7:26239301..26241163,2	K562	blood:
10	chr7:26131124..26132975-chr7:26134853..26136801,2	K562	blood:
11	chr7:26122863..26125751-chr7:26125996..26128926,3	K562	blood:
12	chr7:26127526..26133053-chr7:26238305..26241600,7	MCF-7	breast:
13	chr7:26125058..26127925-chr7:26238815..26242707,3	MCF-7	breast:
14	chr7:26116496..26120025-chr7:26124167..26127570,3	MCF-7	breast:
15	chr7:26130005..26132099-chr7:26191209..26193646,2	MCF-7	breast:
16	chr7:26136960..26140512-chr7:26226454..26229545,3	K562	blood:
17	chr7:26138953..26140614-chr7:26142057..26143746,2	K562	blood:
18	chr7:26125161..26128089-chr7:26129488..26132458,4	MCF-7	breast:
19	chr7:26135924..26137855-chr7:26144469..26146230,4	MCF-7	breast:
20	chr7:26126882..26129598-chr7:26130419..26133130,2	K562	blood:
21	chr7:26126033..26128739-chr7:26129365..26131958,3	MCF-7	breast:
22	chr7:26127176..26132084-chr7:26132908..26137367,5	K562	blood:
23	chr7:26135924..26137855-chr7:26144469..26146230,4	MCF-7	breast:
24	chr7:26133229..26135657-chr7:26144514..26146950,2	MCF-7	breast:
25	chr7:26125161..26128089-chr7:26129488..26132458,4	MCF-7	breast:
26	chr7:26126753..26129598-chr7:26130419..26132828,3	K562	blood:
27	chr7:26135136..26138294-chr7:26144321..26146577,5	MCF-7	breast:
28	chr7:26130355..26130891-chr7:26404343..26405006,2	MCF-7	breast:
29	chr7:26126753..26129598-chr7:26130419..26132828,3	K562	blood:
30	chr7:26135136..26138294-chr7:26144321..26146577,5	MCF-7	breast:
31	chr7:26120079..26121816-chr7:26128176..26130468,2	K562	blood:
32	chr7:26122904..26124526-chr7:26129160..26131846,3	MCF-7	breast:
33	chr7:26127005..26130353-chr7:26231092..26235350,4	MCF-7	breast:
34	chr7:26131124..26132975-chr7:26134853..26136801,2	K562	blood:
35	chr7:26126882..26129598-chr7:26130419..26133130,2	K562	blood:
36	chr22:49929400..49929920-chr7:26140865..26141585,2	NB4	blood:
37	chr7:26130771..26133250-chr7:26224106..26227853,3	MCF-7	breast:
38	chr7:26129160..26135245-chr7:26236399..26242372,9	MCF-7	breast:
39	chr7:26130393..26131271-chr7:26404507..26405104,2	K562	blood:
40	chr7:26122995..26125751-chr7:26126126..26128926,3	K562	blood:
41	chr7:26129819..26132653-chr7:26238402..26240487,3	K562	blood:
42	chr7:26133229..26135657-chr7:26144514..26146950,2	MCF-7	breast:
43	chr7:26122079..26124239-chr7:26127253..26128768,2	MCF-7	breast:
44	chr7:26129244..26131736-chr7:26219781..26221965,2	K562	blood:
45	chr7:26117990..26136794-chr7:26219781..26234338,53	K562	blood:
46	chr7:26131775..26133485-chr7:26328887..26331564,2	K562	blood:
47	chr12:53436002..53436502-chr7:26140425..26141348,2	NB4	blood:
48	chr7:26120211..26123074-chr7:26126513..26128042,2	MCF-7	breast:
49	chr7:26140097..26142166-chr7:26224742..26227594,2	K562	blood:
50	chr7:26126507..26129554-chr7:26238695..26242281,4	K562	blood:

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

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

No data

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

Extended variants
information (count: 569 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:569 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7777679	chr7:26127564-26127565	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs571089316	chr7:26127587-26127588	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs142783136	chr7:26127617-26127618	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs190470589	chr7:26127645-26127646	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs552992334	chr7:26127699-26127700	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs12535642	chr7:26127755-26127756	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs144647723	chr7:26127854-26127855	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs555539529	chr7:26127913-26127914	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs575412018	chr7:26127925-26127926	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs182035472	chr7:26128084-26128085	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs377581146	chr7:26128104-26128105	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs148481257	chr7:26128142-26128143	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs578024252	chr7:26128182-26128183	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs540523348	chr7:26128198-26128199	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs150505494	chr7:26128275-26128276	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs528845225	chr7:26128297-26128298	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs549068122	chr7:26128299-26128300	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs562418325	chr7:26128338-26128339	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs531415659	chr7:26128364-26128365	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs6945001	chr7:26128382-26128383	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs570703270	chr7:26128402-26128403	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs539791336	chr7:26128433-26128434	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs527858784	chr7:26128500-26128501	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs546843699	chr7:26128511-26128512	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs548026278	chr7:26128558-26128559	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs535424150	chr7:26128634-26128635	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs73683237	chr7:26128655-26128656	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs143295324	chr7:26128676-26128677	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs538321353	chr7:26128699-26128700	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs557706962	chr7:26128720-26128721	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs17153217	chr7:26128758-26128759	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs186077442	chr7:26128806-26128807	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs560445701	chr7:26128844-26128845	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs374529487	chr7:26128866-26128867	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs140670309	chr7:26128893-26128894	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs562491500	chr7:26128902-26128903	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs189752473	chr7:26128926-26128927	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs560152437	chr7:26128928-26128929	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs182435215	chr7:26128935-26128936	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs1859303	chr7:26128940-26128941	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs533310630	chr7:26128974-26128975	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs111808286	chr7:26128987-26128988	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs546905062	chr7:26129015-26129016	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs188347310	chr7:26129044-26129045	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs536124448	chr7:26129083-26129084	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs569943114	chr7:26129111-26129112	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs58865772	chr7:26129115-26129116	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs569225683	chr7:26129153-26129154	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs537999855	chr7:26129154-26129155	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs191295328	chr7:26129155-26129156	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	3 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:465 , 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	chr7:26121600-26130200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:26121600-26130200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:26122200-26130600	Weak transcription	Duodenum Mucosa	Duodenum
5	chr7:26122400-26128600	Enhancers	NHEK	skin
6	chr7:26122600-26129000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:26123200-26130200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr7:26123200-26130400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:26123400-26130200	Weak transcription	Fetal Intestine Large	intestine
10	chr7:26124400-26130400	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr7:26124400-26130400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr7:26125000-26128600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr7:26125200-26129000	Enhancers	Placenta	Placenta
14	chr7:26125400-26128600	Enhancers	HMEC	breast
15	chr7:26125800-26130400	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr7:26126000-26130600	Weak transcription	Stomach Mucosa	stomach
17	chr7:26126000-26135800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr7:26126400-26128600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr7:26126600-26128400	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr7:26127000-26136600	Weak transcription	Fetal Thymus	thymus
21	chr7:26127400-26127600	Enhancers	Fetal Brain Female	brain
22	chr7:26127400-26128000	Enhancers	HepG2	liver
23	chr7:26128000-26132400	Weak transcription	HepG2	liver
24	chr7:26128400-26128600	Enhancers	Primary B cells from peripheral blood	blood
25	chr7:26128400-26131600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr7:26128600-26128800	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr7:26128600-26129800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
28	chr7:26128600-26130000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
29	chr7:26128600-26130200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr7:26128600-26130400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr7:26128600-26130600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr7:26128600-26130800	Weak transcription	HMEC	breast
33	chr7:26128600-26130800	Weak transcription	NHEK	skin
34	chr7:26128800-26129200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr7:26128800-26129800	ZNF genes & repeats	GM12878-XiMat	blood
36	chr7:26128800-26130200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr7:26129000-26131400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr7:26129000-26136400	Weak transcription	Placenta	Placenta
39	chr7:26129200-26129400	Enhancers	Primary T cells from cord blood	blood
40	chr7:26129200-26129600	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr7:26129400-26130400	Weak transcription	Primary T cells from cord blood	blood
42	chr7:26129600-26130400	Enhancers	Primary hematopoietic stem cells	blood
43	chr7:26129600-26130400	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr7:26129800-26130200	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr7:26129800-26130200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr7:26129800-26136400	Weak transcription	GM12878-XiMat	blood
47	chr7:26130000-26130200	Weak transcription	Primary B cells from peripheral blood	blood
48	chr7:26130200-26130400	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr7:26130200-26130400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr7:26130200-26130400	Active TSS	iPS-20b Cell Line	embryonic stem cell

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