Variant report

Variant	esv1851770
Chromosome Location	chr7:6084310-6089831
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:23)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:23 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr7:6087622-6087854	HepG2	liver:	n/a	chr7:6087786-6087797
2	CEBPB	chr7:6087730-6087930	A549	lung:	n/a	chr7:6087786-6087797
3	CEBPB	chr7:6085694-6085872	H1-hESC	embryonic stem cell:	n/a	chr7:6085746-6085757
4	CEBPB	chr7:6085617-6085910	HepG2	liver:	n/a	chr7:6085746-6085757
5	CEBPB	chr7:6085647-6085870	K562	blood:	n/a	chr7:6085746-6085757
6	CEBPB	chr7:6084340-6084536	HepG2	liver:	n/a	n/a
7	CEBPB	chr7:6089175-6089181	A549	lung:	n/a	n/a
8	CEBPB	chr7:6085685-6085899	A549	lung:	n/a	chr7:6085746-6085757
9	CTCF	chr7:6089354-6089404	Fibrobl	skin:	n/a	n/a
10	CUX1	chr7:6085856-6086051	K562	blood:	n/a	n/a
11	MYC	chr7:6088698-6088802	MCF-7	breast:	n/a	n/a
12	POLR2A	chr7:6087456-6087593	K562	blood:	n/a	n/a
13	POLR2A	chr7:6089349-6089538	ProgFib	skin:	n/a	n/a
14	POLR2A	chr7:6086792-6086905	K562	blood:	n/a	n/a
15	POLR2A	chr7:6087423-6087663	ECC-1	luminal epithelium:	n/a	n/a
16	POLR2A	chr7:6084145-6084520	K562	blood:	n/a	n/a
17	POLR2A	chr7:6084780-6085001	HepG2	liver:	n/a	n/a
18	POLR2A	chr7:6088773-6088858	K562	blood:	n/a	n/a
19	POLR2A	chr7:6089051-6089149	ProgFib	skin:	n/a	n/a
20	POLR2A	chr7:6087904-6088089	K562	blood:	n/a	n/a
21	POLR2A	chr7:6088636-6088827	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr7:6088684-6088828	MCF-7	breast:	n/a	n/a
23	POLR2A	chr7:6089335-6089407	K562	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:6078106..6080313-chr7:6082718..6084725,2	MCF-7	breast:
2	chr7:6084295..6085840-chr7:6140826..6143593,2	K562	blood:
3	chr7:6087739..6090277-chr7:6144238..6146769,2	K562	blood:
4	chr7:6085178..6086878-chr7:6088659..6090209,2	K562	blood:
5	chr7:6082731..6088079-chr7:6097012..6099885,4	MCF-7	breast:
6	chr7:6074673..6076443-chr7:6088035..6089641,2	K562	blood:
7	chr7:6084536..6086826-chr7:6088354..6091112,2	K562	blood:
8	chr7:6087952..6090594-chr7:6142874..6144661,2	MCF-7	breast:
9	chr7:6083755..6085434-chr7:6104765..6107098,2	K562	blood:
10	chr7:6088385..6094531-chr7:6095693..6100506,11	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANKRD61-1	chr7:6087260-6087427	NONHSAT118968
2	lnc-ANKRD61-1	chr7:6087260-6087427	NONHSAT118969
3	lnc-ANKRD61-1	chr7:6087828-6087955	NONHSAT118971
4	lnc-PMS2-5	chr7:6087354-6087651	NONHSAT118970

No data

Variant related genes	Relation type
EIF2AK1	TF binding region
RN7SL851P	TF binding region
ENSG00000106346	chromatin interactions
ENSG00000086232	chromatin interactions
ENSG00000252929	chromatin interactions

Extended variants
information (count: 230 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:230 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs511969	chr7:6084310-6084311	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs570734122	chr7:6084386-6084387	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs372155955	chr7:6084396-6084397	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs565869677	chr7:6084437-6084438	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs539312060	chr7:6084465-6084466	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs558047243	chr7:6084545-6084546	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs150450433	chr7:6084547-6084548	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs560013913	chr7:6084549-6084550	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs138298276	chr7:6084557-6084558	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs555433101	chr7:6084568-6084569	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs182324639	chr7:6084602-6084603	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs77273237	chr7:6084610-6084611	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs553248166	chr7:6084652-6084653	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs578132011	chr7:6084674-6084675	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs545344438	chr7:6084680-6084681	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs111908313	chr7:6084682-6084683	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs575562210	chr7:6084695-6084696	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs542596563	chr7:6084704-6084705	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs149215913	chr7:6084717-6084718	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs550045384	chr7:6084735-6084736	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs528518105	chr7:6084741-6084742	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs117957690	chr7:6084814-6084815	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs559248394	chr7:6084816-6084817	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs533172197	chr7:6084818-6084819	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs143374193	chr7:6084861-6084862	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs187406441	chr7:6084862-6084863	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs537381392	chr7:6084899-6084900	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs548998995	chr7:6084909-6084910	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs573299075	chr7:6084947-6084948	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs76699236	chr7:6084980-6084981	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs534665624	chr7:6084985-6084986	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs553050990	chr7:6084990-6084991	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs190219904	chr7:6085035-6085036	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs540208	chr7:6085057-6085058	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs557307207	chr7:6085072-6085073	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs112527249	chr7:6085129-6085130	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs542917308	chr7:6085166-6085167	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs77245065	chr7:6085190-6085191	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs572916279	chr7:6085191-6085192	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs142971308	chr7:6085293-6085294	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs590976	chr7:6085346-6085347	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs376470453	chr7:6085364-6085365	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs71994727	chr7:6085365-6085366	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs57579824	chr7:6085384-6085385	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs565356430	chr7:6085427-6085428	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs532530490	chr7:6085433-6085434	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs543770	chr7:6085456-6085457	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs530781669	chr7:6085457-6085458	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs549309780	chr7:6085462-6085463	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs57325983	chr7:6085465-6085466	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	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
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21045282	CNVD
Disorders of sex development	21048976	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Acute myeloid leukemia	21251322	CNVD
Pancreatic cancer	17952125	CNVD
small cell lung cancer	17426248	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:280 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6049400-6098000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:6050000-6097800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:6050400-6089400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr7:6050400-6095400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:6050400-6095600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:6050600-6091000	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr7:6050800-6091000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr7:6050800-6095200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr7:6051000-6095200	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr7:6051800-6089600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:6052200-6089400	Strong transcription	Fetal Stomach	stomach
12	chr7:6052600-6094600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:6053000-6095000	Strong transcription	Fetal Intestine Small	intestine
14	chr7:6054400-6095200	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr7:6054600-6090200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr7:6054800-6089400	Strong transcription	Fetal Intestine Large	intestine
17	chr7:6055800-6089000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr7:6056000-6089600	Strong transcription	Liver	Liver
19	chr7:6056400-6085400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr7:6056400-6095200	Strong transcription	Dnd41	blood
21	chr7:6056600-6095200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr7:6056800-6089400	Strong transcription	Osteobl	bone
23	chr7:6056800-6090000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr7:6056800-6090600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr7:6056800-6094800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr7:6064000-6087400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr7:6066400-6090000	Strong transcription	Fetal Muscle Trunk	muscle
28	chr7:6066600-6089200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr7:6066600-6094600	Strong transcription	Fetal Muscle Leg	muscle
30	chr7:6066800-6089400	Strong transcription	Sigmoid Colon	Sigmoid Colon
31	chr7:6066800-6091200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr7:6066800-6094800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr7:6066800-6095200	Strong transcription	Fetal Thymus	thymus
34	chr7:6067000-6089400	Strong transcription	Adipose Nuclei	Adipose
35	chr7:6067000-6089400	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr7:6067000-6089600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr7:6067000-6089800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr7:6067000-6094600	Strong transcription	Placenta	Placenta
39	chr7:6067200-6089600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr7:6067200-6090400	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr7:6067400-6089600	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr7:6067800-6095200	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr7:6068000-6094400	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr7:6069000-6089400	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr7:6070600-6086400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr7:6070800-6089400	Strong transcription	Duodenum Mucosa	Duodenum
47	chr7:6071000-6089000	Strong transcription	Stomach Smooth Muscle	stomach
48	chr7:6071000-6094600	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr7:6071200-6089400	Strong transcription	H1 Cell Line	embryonic stem cell
50	chr7:6071200-6090600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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