Variant report

Variant	esv1793794
Chromosome Location	chr7:8064509-8078802
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:8063593..8066315-chr7:8067381..8070107,2	MCF-7	breast:
2	chr7:8065280..8067044-chr7:8073345..8076327,2	MCF-7	breast:
3	chr7:8068288..8070626-chr7:8070654..8072447,2	K562	blood:
4	chr12:34844822..34846343-chr7:8071587..8073511,2	MCF-7	breast:
5	chr7:8063593..8066315-chr7:8067381..8070107,2	MCF-7	breast:
6	chr7:8065280..8067044-chr7:8073345..8076327,2	MCF-7	breast:
7	chr7:8068288..8070626-chr7:8070654..8072447,2	K562	blood:
8	chr7:8006781..8009686-chr7:8074600..8077237,3	MCF-7	breast:
9	chr7:8058670..8060171-chr7:8065220..8067372,2	MCF-7	breast:
10	chr7:8062440..8065234-chr7:8085232..8088218,2	MCF-7	breast:
11	chr7:7721232..7721744-chr7:8075592..8076157,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000233108	chromatin interactions
ENSG00000106415	chromatin interactions

Extended variants
information (count: 585 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:585 , 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	rs10278726	chr7:8064509-8064510	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs578217799	chr7:8064512-8064513	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs62433406	chr7:8064513-8064514	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs557055796	chr7:8064514-8064515	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575111557	chr7:8064519-8064520	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560275587	chr7:8064618-8064619	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs192271436	chr7:8064640-8064641	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs572762832	chr7:8064707-8064708	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs35218218	chr7:8064797-8064798	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs572184846	chr7:8064830-8064831	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540139848	chr7:8064853-8064854	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184708271	chr7:8064854-8064855	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs532214638	chr7:8064858-8064859	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189152027	chr7:8064879-8064880	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112621109	chr7:8064904-8064905	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs181908478	chr7:8064924-8064925	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs184161942	chr7:8064925-8064926	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189536865	chr7:8064957-8064958	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567671826	chr7:8065046-8065047	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528746768	chr7:8065059-8065060	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531160343	chr7:8065108-8065109	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571857300	chr7:8065118-8065119	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181191965	chr7:8065141-8065142	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534910770	chr7:8065251-8065252	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562462579	chr7:8065263-8065264	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549373586	chr7:8065306-8065307	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs186699505	chr7:8065308-8065309	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539250703	chr7:8065324-8065325	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557296396	chr7:8065407-8065408	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs367831072	chr7:8065408-8065409	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561566496	chr7:8065429-8065430	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572735564	chr7:8065458-8065459	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532777961	chr7:8065485-8065486	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535975964	chr7:8065501-8065502	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs554096416	chr7:8065617-8065618	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs572551768	chr7:8065650-8065651	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540125588	chr7:8065662-8065663	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs558456690	chr7:8065665-8065666	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189946378	chr7:8065721-8065722	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs73242082	chr7:8065756-8065757	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs567039560	chr7:8065766-8065767	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562555228	chr7:8065774-8065775	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553494643	chr7:8065792-8065793	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs564414942	chr7:8065960-8065961	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs528776852	chr7:8065965-8065966	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs375642968	chr7:8065969-8065970	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs200636540	chr7:8065996-8065997	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs543143562	chr7:8066012-8066013	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561260975	chr7:8066024-8066025	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528533133	chr7:8066031-8066032	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
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
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
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
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	22522925	CNVD
Renal cell carcinoma	18194544	CNVD
Prostate cancer	22341455	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:516 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:8036400-8077400	Weak transcription	Right Ventricle	heart
2	chr7:8036600-8074600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:8038000-8066000	Weak transcription	Pancreas	Pancrea
4	chr7:8038400-8066000	Weak transcription	Spleen	Spleen
5	chr7:8041600-8095000	Weak transcription	Gastric	stomach
6	chr7:8041800-8075400	Weak transcription	Brain Hippocampus Middle	brain
7	chr7:8043000-8099200	Weak transcription	Colon Smooth Muscle	Colon
8	chr7:8043600-8068400	Weak transcription	NH-A	brain
9	chr7:8043800-8064600	Weak transcription	Small Intestine	intestine
10	chr7:8044200-8066000	Weak transcription	Lung	lung
11	chr7:8044600-8074400	Weak transcription	Brain Angular Gyrus	brain
12	chr7:8045200-8066000	Weak transcription	Fetal Brain Male	brain
13	chr7:8046800-8066000	Weak transcription	Left Ventricle	heart
14	chr7:8046800-8074400	Weak transcription	Brain Substantia Nigra	brain
15	chr7:8047000-8066000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr7:8047200-8065200	Weak transcription	Fetal Kidney	kidney
17	chr7:8047200-8065400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr7:8047200-8066000	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr7:8047200-8066200	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr7:8047400-8066000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr7:8047400-8066000	Weak transcription	Brain Cingulate Gyrus	brain
22	chr7:8047400-8066000	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr7:8047400-8075600	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr7:8047600-8108200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr7:8049200-8066000	Weak transcription	Fetal Heart	heart
26	chr7:8057200-8067600	Weak transcription	Colonic Mucosa	Colon
27	chr7:8057400-8065400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr7:8057400-8065400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr7:8058800-8069400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr7:8059200-8064600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr7:8059200-8067800	ZNF genes & repeats	GM12878-XiMat	blood
32	chr7:8061200-8070000	Weak transcription	Stomach Mucosa	stomach
33	chr7:8061400-8064600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr7:8061800-8064600	Strong transcription	Placenta	Placenta
35	chr7:8061800-8066000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr7:8062200-8064800	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr7:8062200-8065000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr7:8062200-8065000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr7:8062200-8066800	Strong transcription	Adipose Nuclei	Adipose
40	chr7:8062200-8066800	Strong transcription	Duodenum Mucosa	Duodenum
41	chr7:8062200-8068000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr7:8062600-8065000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr7:8062600-8065000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr7:8062600-8065000	Strong transcription	Fetal Stomach	stomach
45	chr7:8062600-8066000	Weak transcription	Brain Anterior Caudate	brain
46	chr7:8062800-8066800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr7:8062800-8067600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr7:8063400-8064600	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr7:8063400-8066400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
50	chr7:8063400-8066400	Strong transcription	Stomach Smooth Muscle	stomach

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