Variant report

Variant	esv2762650
Chromosome Location	chr7:11356006-11387485
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:16)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:11251355..11252341-chr7:11383095..11384072,2	K562	blood:
2	chr7:11175308..11177163-chr7:11367863..11369367,2	MCF-7	breast:
3	chr7:11370379..11373383-chr7:11374361..11377115,3	MCF-7	breast:
4	chr7:11300668..11301550-chr7:11377175..11377834,2	MCF-7	breast:
5	chr7:11193309..11193972-chr7:11380975..11381751,3	MCF-7	breast:
6	chr7:11352516..11354876-chr7:11367458..11369669,2	MCF-7	breast:
7	chr7:11375660..11377782-chr7:11381542..11383525,2	K562	blood:
8	chr7:11193379..11193920-chr7:11380707..11381612,2	MCF-7	breast:
9	chr7:11193091..11193870-chr7:11383205..11383845,2	MCF-7	breast:
10	chr7:11310747..11312959-chr7:11363468..11365814,2	MCF-7	breast:
11	chr7:11012802..11015105-chr7:11379286..11381051,2	MCF-7	breast:
12	chr7:10929007..10929956-chr7:11380303..11381142,3	MCF-7	breast:
13	chr7:11370379..11373383-chr7:11374361..11377115,3	MCF-7	breast:
14	chr7:11251507..11252169-chr7:11380655..11381512,2	MCF-7	breast:
15	chr7:11349044..11351457-chr7:11357652..11360171,2	MCF-7	breast:
16	chr7:11375660..11377782-chr7:11381542..11383525,2	K562	blood:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PHF14-9	chr7:11385439-11385521	ucscGeneNc_uc003ssb_2
2	lnc-PHF14-8	chr7:11382275-11382281	FPKM1_group_29126_transcript_2
3	lnc-PHF14-8	chr7:11379524-11380122	FPKM1_group_29126_transcript_2
4	lnc-PHF14-1	chr7:11361876-11361951	ENSG00000230333.1
5	lnc-PHF14-1	chr7:11377320-11377438	ENSG00000230333.2
6	lnc-PHF14-8	chr7:11382275-11382344	NONHSAT119218
7	lnc-PHF14-8	chr7:11379524-11380122	NONHSAT119218

No data

Variant related genes	Relation type
ENSG00000106443	chromatin interactions

Extended variants
information (count: 1439 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:1439 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17621204	chr7:11356006-11356007	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs549728500	chr7:11356009-11356010	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191686201	chr7:11356013-11356014	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs570996184	chr7:11356014-11356015	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs368238204	chr7:11356081-11356082	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555826706	chr7:11356082-11356083	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs371276253	chr7:11356126-11356127	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533948515	chr7:11356142-11356143	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs72586151	chr7:11356173-11356174	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs577181320	chr7:11356256-11356257	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546135269	chr7:11356259-11356260	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs78552902	chr7:11356262-11356263	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs183339350	chr7:11356271-11356272	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs377753597	chr7:11356285-11356286	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs13231142	chr7:11356286-11356287	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs187465896	chr7:11356289-11356290	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs527395900	chr7:11356306-11356307	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs116689011	chr7:11356346-11356347	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs28554075	chr7:11356367-11356368	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs2353816	chr7:11356368-11356369	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs147635215	chr7:11356396-11356397	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369946372	chr7:11356414-11356415	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533379951	chr7:11356429-11356430	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs140200928	chr7:11356435-11356436	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs58179006	chr7:11356445-11356446	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs377398286	chr7:11356481-11356482	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550039281	chr7:11356526-11356527	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs143679462	chr7:11356603-11356604	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555815002	chr7:11356606-11356607	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570061199	chr7:11356613-11356614	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529276560	chr7:11356665-11356666	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs549118705	chr7:11356772-11356773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs138255743	chr7:11356793-11356794	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537730570	chr7:11356821-11356822	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs4719265	chr7:11356830-11356831	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs368073463	chr7:11356841-11356842	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570647827	chr7:11356847-11356848	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539676556	chr7:11356873-11356874	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs568083794	chr7:11356915-11356916	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556495883	chr7:11356953-11356954	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576301586	chr7:11356977-11356978	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs143735744	chr7:11356985-11356986	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs6963703	chr7:11356997-11356998	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs576925354	chr7:11357004-11357005	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs10252651	chr7:11357010-11357011	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs146104281	chr7:11357015-11357016	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376319915	chr7:11357030-11357031	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs6964230	chr7:11357042-11357043	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs192721032	chr7:11357057-11357058	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543648231	chr7:11357060-11357061	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
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
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
Ovarian clear cell carcinoma	19293255	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Medulloblastoma	17653508	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	18194544	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Autism	22495309	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Glioblastoma multiforme	17002787	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Melanoma	20877625	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:194 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11353600-11361400	Weak transcription	Liver	Liver
2	chr7:11353600-11367600	Weak transcription	Adipose Nuclei	Adipose
3	chr7:11354400-11357200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:11354800-11356200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:11355800-11357000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr7:11356000-11357200	Enhancers	GM12878-XiMat	blood
7	chr7:11356200-11357000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr7:11357000-11357200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr7:11357000-11357200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr7:11357200-11357400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr7:11357200-11357600	Flanking Active TSS	GM12878-XiMat	blood
12	chr7:11357400-11357600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:11357600-11358200	Enhancers	GM12878-XiMat	blood
14	chr7:11357600-11367000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr7:11358200-11360200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr7:11358600-11360400	Enhancers	HMEC	breast
17	chr7:11359000-11360000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr7:11359200-11359400	Enhancers	GM12878-XiMat	blood
19	chr7:11359200-11359600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr7:11359200-11359600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr7:11359200-11359600	Enhancers	NHDF-Ad	bronchial
22	chr7:11359200-11359800	Enhancers	NHEK	skin
23	chr7:11359400-11359800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr7:11361400-11362600	Strong transcription	Liver	Liver
25	chr7:11362400-11362600	Enhancers	Ovary	ovary
26	chr7:11362600-11383200	Weak transcription	Liver	Liver
27	chr7:11365600-11365800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr7:11365800-11366000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr7:11366000-11367400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr7:11367000-11368600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr7:11367400-11368200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr7:11367400-11368200	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr7:11367600-11368200	Enhancers	Fetal Kidney	kidney
34	chr7:11367600-11368400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
35	chr7:11367600-11368600	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr7:11367600-11368600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr7:11367600-11368600	Enhancers	Adipose Nuclei	Adipose
38	chr7:11367600-11370200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr7:11367800-11368200	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr7:11367800-11368200	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr7:11367800-11368600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr7:11368000-11368200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr7:11368000-11368400	Enhancers	HSMMtube	muscle
44	chr7:11368000-11368600	Enhancers	H1 Cell Line	embryonic stem cell
45	chr7:11368000-11368600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr7:11368000-11368600	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr7:11368200-11369000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr7:11368600-11369000	Weak transcription	Adipose Nuclei	Adipose
49	chr7:11369000-11369400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr7:11369000-11369800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links