Variant report

Variant	nsv1034182
Chromosome Location	chr7:69406172-69529294
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:33)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:33 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:69472277..69474938-chr7:69476537..69478191,2	K562	blood:
2	chr7:69422896..69425409-chr7:69440425..69442318,2	K562	blood:
3	chr7:69407235..69410156-chr7:69414397..69415945,2	K562	blood:
4	chr7:69453365..69456606-chr7:69459884..69464599,5	K562	blood:
5	chr7:69492662..69494533-chr7:69494789..69496993,2	MCF-7	breast:
6	chr17:17140568..17141073-chr7:69416276..69416797,2	HCT-116	colon:
7	chr7:69507240..69508178-chr7:69626181..69627189,3	MCF-7	breast:
8	chr7:69453365..69456606-chr7:69459884..69464599,5	K562	blood:
9	chr7:69499839..69501750-chr7:69505112..69507033,2	K562	blood:
10	chr7:69507502..69508119-chr7:69626360..69626921,2	MCF-7	breast:
11	chr7:69448782..69451652-chr7:69453514..69455683,2	K562	blood:
12	chr7:69423156..69425237-chr7:69469774..69471942,2	MCF-7	breast:
13	chr7:69459148..69462116-chr7:69464154..69466270,2	K562	blood:
14	chr7:69448782..69451652-chr7:69453514..69455683,2	K562	blood:
15	chr7:69492662..69494533-chr7:69494789..69496993,2	MCF-7	breast:
16	chr7:69507259..69508393-chr7:70162935..70163782,5	MCF-7	breast:
17	chr7:69422896..69425409-chr7:69440425..69442318,2	K562	blood:
18	chr7:69396739..69397519-chr7:69507195..69508169,2	MCF-7	breast:
19	chr7:69499839..69501750-chr7:69505112..69507033,2	K562	blood:
20	chr7:69499053..69501725-chr7:69503584..69505273,2	MCF-7	breast:
21	chr7:69472277..69474938-chr7:69476537..69478191,2	K562	blood:
22	chr7:69499053..69501725-chr7:69503584..69505273,2	MCF-7	breast:
23	chr7:69418634..69420209-chr7:69430250..69432320,2	MCF-7	breast:
24	chr7:69507131..69507765-chr7:69626314..69626849,2	MCF-7	breast:
25	chr7:69407235..69410156-chr7:69414397..69415945,2	K562	blood:
26	chr7:69459148..69462116-chr7:69464154..69466270,2	K562	blood:
27	chr7:69521541..69523316-chr7:69526522..69528955,2	K562	blood:
28	chr7:69521541..69523316-chr7:69526522..69528955,2	K562	blood:
29	chr7:69497223..69498827-chr7:75682807..75685073,2	MCF-7	breast:
30	chr7:69418634..69420209-chr7:69430250..69432320,2	MCF-7	breast:
31	chr7:69423156..69425237-chr7:69469774..69471942,2	MCF-7	breast:
32	chr7:66842895..66843844-chr7:69506111..69506611,2	K562	blood:
33	chr7:67257876..67258792-chr7:69506066..69506610,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CALN1-6	chr7:69440911-69441196	uc_218_-
2	lnc-WBSCR17-7	chr7:69440911-69441196	uc_218_+

No data

Variant related genes	Relation type
ENSG00000146701	chromatin interactions

Extended variants
information (count: 3912 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:3912 , 50 per page) page: 1 2 3 4 5 6 7 ... 79

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572889022	chr7:69406224-69406225	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs571684898	chr7:69406236-69406237	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs532547386	chr7:69406247-69406248	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs144920491	chr7:69406258-69406259	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs144385666	chr7:69406266-69406267	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs371475889	chr7:69406271-69406272	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs566022858	chr7:69406293-69406294	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs374966254	chr7:69406367-69406368	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs536506663	chr7:69406401-69406402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs554967728	chr7:69406461-69406462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs186766188	chr7:69406545-69406546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs10241893	chr7:69406561-69406562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs56227016	chr7:69406566-69406567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs60221178	chr7:69406597-69406598	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs568896599	chr7:69406626-69406627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs6947395	chr7:69406661-69406662	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs6460533	chr7:69406666-69406667	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs140968816	chr7:69406702-69406703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs369792007	chr7:69406773-69406774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs190683810	chr7:69406816-69406817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs542915087	chr7:69406825-69406826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs6961164	chr7:69406854-69406855	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs531716966	chr7:69406885-69406886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs564415200	chr7:69406924-69406925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs543482039	chr7:69406947-69406948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs565374985	chr7:69406969-69406970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs532509821	chr7:69406971-69406972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs547494862	chr7:69407012-69407013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs115662372	chr7:69407056-69407057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs117862712	chr7:69407063-69407064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs17362481	chr7:69407094-69407095	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs144803049	chr7:69407096-69407097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs532227712	chr7:69407181-69407182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs555928933	chr7:69407220-69407221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs183444079	chr7:69407256-69407257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs79843765	chr7:69407268-69407269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs369613914	chr7:69407277-69407278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs187934889	chr7:69407306-69407307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs371615937	chr7:69407333-69407334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs193163204	chr7:69407351-69407352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs118121627	chr7:69407355-69407356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs554828350	chr7:69407415-69407416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs529263632	chr7:69407467-69407468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs576307559	chr7:69407506-69407507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs543788917	chr7:69407512-69407513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs548050227	chr7:69407515-69407516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs565091858	chr7:69407545-69407546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs568039407	chr7:69407583-69407584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs541098028	chr7:69407628-69407629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs562622763	chr7:69407668-69407669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Glioma	20126413	CNVD
Epilepsy	20502679	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Lung adenocarcinoma	17982442	CNVD

Chromatin state (count:1699 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69387600-69409400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr7:69391800-69417000	Weak transcription	Primary B cells from cord blood	blood
3	chr7:69402000-69406800	Enhancers	Fetal Thymus	thymus
4	chr7:69403800-69409000	Weak transcription	Fetal Heart	heart
5	chr7:69404400-69407200	Enhancers	Primary T cells from cord blood	blood
6	chr7:69404600-69427800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr7:69404800-69409600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:69405800-69406400	Enhancers	Brain Hippocampus Middle	brain
9	chr7:69406000-69406200	Enhancers	Psoas Muscle	Psoas
10	chr7:69406000-69406400	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr7:69406000-69406400	Enhancers	Adipose Nuclei	Adipose
12	chr7:69406000-69406400	Enhancers	Brain Anterior Caudate	brain
13	chr7:69406000-69406400	Enhancers	Colon Smooth Muscle	Colon
14	chr7:69406000-69406600	Enhancers	GM12878-XiMat	blood
15	chr7:69406000-69406800	Enhancers	Primary B cells from peripheral blood	blood
16	chr7:69406000-69406800	Enhancers	Thymus	Thymus
17	chr7:69406000-69408800	Enhancers	Fetal Brain Male	brain
18	chr7:69406000-69409000	Enhancers	Fetal Brain Female	brain
19	chr7:69406200-69406400	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr7:69406200-69406400	Enhancers	Brain Germinal Matrix	brain
21	chr7:69406200-69406800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr7:69406200-69407400	Weak transcription	Right Atrium	heart
23	chr7:69406400-69407200	Weak transcription	Brain Germinal Matrix	brain
24	chr7:69406600-69415600	Weak transcription	GM12878-XiMat	blood
25	chr7:69406800-69417200	Weak transcription	Thymus	Thymus
26	chr7:69407400-69407600	Enhancers	Brain Germinal Matrix	brain
27	chr7:69408800-69410800	Weak transcription	Fetal Brain Male	brain
28	chr7:69409000-69409400	Enhancers	Fetal Heart	heart
29	chr7:69409200-69410000	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr7:69409400-69410000	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr7:69409400-69412800	Weak transcription	Fetal Heart	heart
32	chr7:69409400-69417200	Weak transcription	Primary hematopoietic stem cells	blood
33	chr7:69409600-69410000	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr7:69409600-69410000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr7:69409600-69410000	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr7:69409600-69410000	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr7:69409600-69410400	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr7:69409800-69410400	Enhancers	Fetal Kidney	kidney
39	chr7:69410000-69412600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr7:69410000-69415400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr7:69410400-69414200	Weak transcription	Fetal Kidney	kidney
42	chr7:69410600-69411000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr7:69410800-69412400	Enhancers	Fetal Brain Male	brain
44	chr7:69411000-69426800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr7:69412000-69412200	Enhancers	Fetal Stomach	stomach
46	chr7:69412200-69418000	Weak transcription	Fetal Stomach	stomach
47	chr7:69412600-69413400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr7:69412800-69413000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr7:69412800-69415200	Enhancers	Fetal Heart	heart
50	chr7:69413000-69413400	Enhancers	Cortex derived primary cultured neurospheres	brain

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