Variant report

Variant	esv1837568
Chromosome Location	chr7:70197277-70202675
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:70184183..70185798-chr7:70197589..70200298,2	MCF-7	breast:

Extended variants
information (count: 233 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:233 , 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	rs17604378	chr7:70197277-70197278	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs566238119	chr7:70197298-70197299	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs73443102	chr7:70197334-70197335	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs549036845	chr7:70197349-70197350	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs567231865	chr7:70197354-70197355	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs578083231	chr7:70197392-70197393	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs373663357	chr7:70197396-70197397	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs117234824	chr7:70197469-70197470	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs555881928	chr7:70197501-70197502	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577567825	chr7:70197525-70197526	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs149068579	chr7:70197536-70197537	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs191052419	chr7:70197555-70197556	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs528433672	chr7:70197582-70197583	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs11764092	chr7:70197584-70197585	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs555735427	chr7:70197594-70197595	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs374743449	chr7:70197602-70197603	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs542391516	chr7:70197608-70197609	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs112156608	chr7:70197648-70197649	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs561172319	chr7:70197683-70197684	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs183251163	chr7:70197765-70197766	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs185468761	chr7:70197776-70197777	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs573986636	chr7:70197779-70197780	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs116777948	chr7:70197794-70197795	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs541713178	chr7:70197880-70197881	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs189830309	chr7:70197883-70197884	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs530448212	chr7:70197977-70197978	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs548484184	chr7:70198008-70198009	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs537840492	chr7:70198051-70198052	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs183116972	chr7:70198074-70198075	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs549855051	chr7:70198123-70198124	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs570873993	chr7:70198124-70198125	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs561931129	chr7:70198127-70198128	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs538269268	chr7:70198148-70198149	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs368858465	chr7:70198176-70198177	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs553380553	chr7:70198180-70198181	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs565623364	chr7:70198181-70198182	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs371886549	chr7:70198184-70198185	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs530572423	chr7:70198188-70198189	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs554465606	chr7:70198295-70198296	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs376058114	chr7:70198317-70198318	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs556662294	chr7:70198320-70198321	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs75821053	chr7:70198343-70198344	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs78215565	chr7:70198344-70198345	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs559029139	chr7:70198392-70198393	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs577283995	chr7:70198398-70198399	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs541418261	chr7:70198431-70198432	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs559823356	chr7:70198443-70198444	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs12698930	chr7:70198515-70198516	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs139389177	chr7:70198529-70198530	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs6965271	chr7:70198536-70198537	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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

Chromatin state (count:403 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70162200-70201600	Weak transcription	Primary B cells from cord blood	blood
2	chr7:70176200-70201600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr7:70179800-70201600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr7:70183000-70201600	Weak transcription	Fetal Muscle Leg	muscle
5	chr7:70183200-70200200	Weak transcription	Ovary	ovary
6	chr7:70183200-70201800	Weak transcription	Pancreas	Pancrea
7	chr7:70183600-70197600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr7:70185800-70197600	Weak transcription	HSMMtube	muscle
9	chr7:70186400-70198200	Weak transcription	Dnd41	blood
10	chr7:70187000-70201200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr7:70190200-70201400	Weak transcription	Fetal Kidney	kidney
12	chr7:70190600-70199400	Weak transcription	Left Ventricle	heart
13	chr7:70190600-70199600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr7:70190600-70201600	Weak transcription	Fetal Intestine Large	intestine
15	chr7:70190800-70198000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr7:70190800-70199400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr7:70191000-70197400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr7:70192200-70197400	Weak transcription	Brain Anterior Caudate	brain
19	chr7:70192200-70200200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr7:70192400-70198800	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr7:70192400-70199400	Weak transcription	Fetal Heart	heart
22	chr7:70193000-70200600	Weak transcription	Liver	Liver
23	chr7:70194000-70199400	Weak transcription	NH-A	brain
24	chr7:70194200-70201800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr7:70194400-70199000	Weak transcription	Psoas Muscle	Psoas
26	chr7:70194400-70199800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr7:70194400-70201400	Weak transcription	Fetal Lung	lung
28	chr7:70194400-70201600	Weak transcription	Gastric	stomach
29	chr7:70194400-70201800	Weak transcription	Colonic Mucosa	Colon
30	chr7:70194400-70201800	Weak transcription	Fetal Muscle Trunk	muscle
31	chr7:70194400-70203000	Weak transcription	Fetal Stomach	stomach
32	chr7:70194400-70203400	Weak transcription	Lung	lung
33	chr7:70194600-70199400	Weak transcription	Brain Hippocampus Middle	brain
34	chr7:70194600-70201600	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr7:70194800-70198800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr7:70194800-70199400	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr7:70194800-70200800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr7:70194800-70201600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr7:70195000-70199400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr7:70195000-70199400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr7:70195000-70199400	Weak transcription	Fetal Brain Male	brain
42	chr7:70195000-70199600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr7:70195000-70201400	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr7:70195200-70201600	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr7:70195600-70200200	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr7:70195600-70201400	Weak transcription	Duodenum Mucosa	Duodenum
47	chr7:70195600-70201600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr7:70195800-70199800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr7:70195800-70199800	Weak transcription	NHEK	skin
50	chr7:70195800-70200000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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