Variant report

Variant	esv1834486
Chromosome Location	chr7:26134253-26145123
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:19)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:26134161..26136379-chr7:26242320..26244096,2	K562	blood:
2	chr7:26140097..26142166-chr7:26224742..26227594,2	K562	blood:
3	chr7:26135924..26137855-chr7:26144469..26146230,4	MCF-7	breast:
4	chr7:26133229..26135657-chr7:26144514..26146950,2	MCF-7	breast:
5	chr7:26134385..26136107-chr7:26239301..26241163,2	K562	blood:
6	chr7:26127176..26132084-chr7:26132908..26137367,5	K562	blood:
7	chr7:26138953..26140614-chr7:26142057..26143746,2	K562	blood:
8	chr7:26131124..26132975-chr7:26134853..26136801,2	K562	blood:
9	chr7:26133229..26135657-chr7:26144514..26146950,2	MCF-7	breast:
10	chr7:26129160..26135245-chr7:26236399..26242372,9	MCF-7	breast:
11	chr7:26135136..26138294-chr7:26144321..26146577,5	MCF-7	breast:
12	chr7:26127085..26136794-chr7:26224123..26230309,16	K562	blood:
13	chr7:26135924..26137855-chr7:26144469..26146230,4	MCF-7	breast:
14	chr12:53436002..53436502-chr7:26140425..26141348,2	NB4	blood:
15	chr7:26135136..26138294-chr7:26144321..26146577,5	MCF-7	breast:
16	chr7:26138953..26140614-chr7:26142057..26143746,2	K562	blood:
17	chr7:26136960..26140512-chr7:26226454..26229545,3	K562	blood:
18	chr22:49929400..49929920-chr7:26140865..26141585,2	NB4	blood:
19	chr7:26117990..26136794-chr7:26219781..26234338,53	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
ENSG00000122566	chromatin interactions
ENSG00000122565	chromatin interactions
ENSG00000050344	chromatin interactions

Extended variants
information (count: 358 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:358 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4722567	chr7:26134253-26134254	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs79478231	chr7:26134259-26134260	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs537731321	chr7:26134263-26134264	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs112875828	chr7:26134265-26134266	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs576821058	chr7:26134269-26134270	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs539557605	chr7:26134326-26134327	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs553017007	chr7:26134337-26134338	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs573018123	chr7:26134343-26134344	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs537963106	chr7:26134360-26134361	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs567566924	chr7:26134399-26134400	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs541687084	chr7:26134421-26134422	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
12	rs77449414	chr7:26134443-26134444	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
13	rs561905366	chr7:26134460-26134461	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
14	rs536583584	chr7:26134485-26134486	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
15	rs141586412	chr7:26134498-26134499	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
16	rs79951006	chr7:26134512-26134513	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
17	rs75304975	chr7:26134531-26134532	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
18	rs532914333	chr7:26134533-26134534	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
19	rs75214641	chr7:26134538-26134539	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
20	rs73281448	chr7:26134618-26134619	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs528958916	chr7:26134627-26134628	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs185659124	chr7:26134674-26134675	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs549904772	chr7:26134675-26134676	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs76139840	chr7:26134693-26134694	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs78978949	chr7:26134759-26134760	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs78621227	chr7:26134781-26134782	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs534482246	chr7:26134799-26134800	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs554458155	chr7:26134801-26134802	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs552929255	chr7:26134841-26134842	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs187780189	chr7:26134849-26134850	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs371354502	chr7:26134851-26134852	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs147035633	chr7:26134855-26134856	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs147701245	chr7:26134866-26134867	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs558695564	chr7:26134874-26134875	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs544526240	chr7:26134886-26134887	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs578077462	chr7:26134915-26134916	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs192534384	chr7:26134971-26134972	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs574424830	chr7:26134976-26134977	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs184024695	chr7:26135049-26135050	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs145494965	chr7:26135071-26135072	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs75189675	chr7:26135106-26135107	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs540258936	chr7:26135112-26135113	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs560075908	chr7:26135127-26135128	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs556329988	chr7:26135152-26135153	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs373371378	chr7:26135194-26135195	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs76724010	chr7:26135199-26135200	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs117695482	chr7:26135210-26135211	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs530976687	chr7:26135216-26135217	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs148541255	chr7:26135225-26135226	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs563796617	chr7:26135229-26135230	Weak transcription Enhancers	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:330 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26119200-26141000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:26126000-26135800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr7:26127000-26136600	Weak transcription	Fetal Thymus	thymus
4	chr7:26129000-26136400	Weak transcription	Placenta	Placenta
5	chr7:26129800-26136400	Weak transcription	GM12878-XiMat	blood
6	chr7:26131000-26136200	Weak transcription	Primary B cells from cord blood	blood
7	chr7:26131000-26136200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr7:26131000-26136400	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr7:26131000-26136400	Weak transcription	Primary B cells from peripheral blood	blood
10	chr7:26131000-26136800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr7:26131800-26137200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr7:26131800-26137400	Weak transcription	A549	lung
13	chr7:26131800-26140400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr7:26132000-26135800	Weak transcription	Primary T cells from cord blood	blood
15	chr7:26132000-26135800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr7:26132000-26136800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr7:26132000-26137400	Weak transcription	Hela-S3	cervix
18	chr7:26132200-26135400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr7:26132200-26136000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr7:26132200-26136200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr7:26132200-26136200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr7:26132200-26136200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr7:26132200-26137400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr7:26132200-26137400	Weak transcription	NHEK	skin
25	chr7:26132400-26135800	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr7:26132600-26135000	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr7:26132600-26135800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr7:26132600-26137400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr7:26134800-26137000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr7:26135000-26135200	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr7:26135200-26135600	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr7:26135400-26137000	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr7:26135600-26139200	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr7:26135800-26136200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr7:26135800-26136600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr7:26135800-26137200	Enhancers	Primary T cells from cord blood	blood
37	chr7:26135800-26137600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr7:26135800-26138200	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr7:26135800-26138800	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr7:26136000-26136400	Enhancers	Brain Cingulate Gyrus	brain
41	chr7:26136000-26136600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr7:26136000-26136600	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr7:26136200-26137200	Weak transcription	HepG2	liver
44	chr7:26136200-26137600	Enhancers	Primary B cells from cord blood	blood
45	chr7:26136200-26138400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr7:26136200-26138600	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr7:26136200-26139200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr7:26136200-26140600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr7:26136200-26141000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
50	chr7:26136400-26138200	Enhancers	Primary B cells from peripheral blood	blood

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