Variant report

Variant	esv2756556
Chromosome Location	chr7:70315873-70357061
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:70321514..70322440-chr7:71198003..71198947,6	MCF-7	breast:
2	chr7:70321617..70322562-chr7:70976561..70977221,2	MCF-7	breast:
3	chr7:70321651..70322570-chr7:71197952..71198877,7	K562	blood:
4	chr7:70319996..70320657-chr7:71198026..71198561,2	MCF-7	breast:
5	chr7:70309809..70312680-chr7:70313436..70316301,3	K562	blood:
6	chr7:70321614..70322798-chr7:71200589..71201582,5	MCF-7	breast:
7	chr7:70316123..70316992-chr7:71197861..71198674,2	K562	blood:
8	chr7:70321684..70322394-chr7:70659915..70660431,2	MCF-7	breast:
9	chr7:70320133..70320969-chr7:71200768..71201606,2	MCF-7	breast:
10	chr7:70321665..70322892-chr7:71197945..71198934,7	MCF-7	breast:
11	chr7:70294046..70294810-chr7:70321629..70322145,2	MCF-7	breast:
12	chr7:70321682..70322568-chr7:71200885..71201597,2	K562	blood:

No data

Extended variants
information (count: 1416 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1416 , 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	rs6954820	chr7:70315873-70315874	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs372040755	chr7:70315875-70315876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532943240	chr7:70315902-70315903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544829178	chr7:70315905-70315906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560630611	chr7:70315962-70315963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs376326006	chr7:70315998-70315999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187040166	chr7:70316020-70316021	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs192243649	chr7:70316039-70316040	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs567501580	chr7:70316055-70316056	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs184352799	chr7:70316092-70316093	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs113325412	chr7:70316118-70316119	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs190417447	chr7:70316123-70316124	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs193242178	chr7:70316147-70316148	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs571998165	chr7:70316151-70316152	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs35352205	chr7:70316158-70316159	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs184527481	chr7:70316171-70316172	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs77422999	chr7:70316175-70316176	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs566273349	chr7:70316189-70316190	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs533607140	chr7:70316213-70316214	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs74356478	chr7:70316282-70316283	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs150609089	chr7:70316283-70316284	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs372966686	chr7:70316305-70316306	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs375937411	chr7:70316360-70316361	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs6460575	chr7:70316365-70316366	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs556015746	chr7:70316386-70316387	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs577560726	chr7:70316391-70316392	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs146487588	chr7:70316444-70316445	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs11273648	chr7:70316450-70316451	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs373002081	chr7:70316492-70316493	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs62459627	chr7:70316520-70316521	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs371392351	chr7:70316524-70316525	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs34156143	chr7:70316538-70316539	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs527482975	chr7:70316553-70316554	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs138105137	chr7:70316561-70316562	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs13243605	chr7:70316564-70316565	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs189358703	chr7:70316575-70316576	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs576468247	chr7:70316590-70316591	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs571961334	chr7:70316615-70316616	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs532815091	chr7:70316617-70316618	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs181424328	chr7:70316642-70316643	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs566114553	chr7:70316687-70316688	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs149534444	chr7:70316689-70316690	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs184057273	chr7:70316701-70316702	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs144089154	chr7:70316709-70316710	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs13233533	chr7:70316714-70316715	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs537442225	chr7:70316753-70316754	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs12698952	chr7:70316821-70316822	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs554534201	chr7:70316837-70316838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188444757	chr7:70316845-70316846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554055810	chr7:70316854-70316855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	16461572	CNVD
Acute monocytic leukemia	16498392	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neurodevelopmental disorder	22521361	CNVD
Renal cell carcinoma	18765545	CNVD
Chordoma	18071362	CNVD
Williams Syndrome	20824207	CNVD
Dyslexia	22102821	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70315000-70321600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr7:70316000-70316800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
3	chr7:70316800-70321600	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr7:70319400-70320000	Enhancers	Fetal Stomach	stomach
5	chr7:70319800-70320400	Enhancers	H9 Cell Line	embryonic stem cell
6	chr7:70320200-70320400	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr7:70320400-70320600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:70320400-70321200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr7:70320600-70321600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr7:70320600-70321800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:70321200-70323600	Enhancers	H9 Cell Line	embryonic stem cell
12	chr7:70321400-70322000	Enhancers	Fetal Muscle Trunk	muscle
13	chr7:70321400-70322200	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr7:70321400-70322800	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr7:70321400-70325000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:70321600-70322000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr7:70321600-70322000	Enhancers	Placenta	Placenta
18	chr7:70321600-70322000	Bivalent Enhancer	Fetal Stomach	stomach
19	chr7:70321600-70322400	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr7:70321600-70323400	Enhancers	H1 Cell Line	embryonic stem cell
21	chr7:70321600-70323400	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr7:70321600-70323600	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr7:70321800-70322800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr7:70322000-70322200	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr7:70322000-70322800	Enhancers	Fetal Stomach	stomach
26	chr7:70322200-70322800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr7:70322200-70322800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr7:70322200-70323400	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr7:70322400-70322800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
30	chr7:70322400-70322800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr7:70322800-70323000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr7:70322800-70323400	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr7:70322800-70323400	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr7:70322800-70323600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr7:70322800-70323600	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr7:70323000-70323400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr7:70323400-70323800	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr7:70323400-70323800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr7:70323400-70324200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
40	chr7:70323600-70324400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
41	chr7:70323600-70325000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
42	chr7:70323600-70325000	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr7:70323800-70324200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
44	chr7:70323800-70324600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr7:70323800-70324800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
46	chr7:70333600-70333800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr7:70333800-70335600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr7:70334200-70334800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr7:70335600-70335800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr7:70335600-70335800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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