Variant report

Variant	nsv888691
Chromosome Location	chr7:87141814-87157051
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr7:87146832-87147180	Hela-S3	cervix:	n/a	chr7:87147004-87147017 chr7:87147005-87147016 chr7:87147004-87147015 chr7:87147006-87147015
2	CEBPB	chr7:87146881-87147169	A549	lung:	n/a	chr7:87147004-87147017 chr7:87147005-87147016 chr7:87147004-87147015 chr7:87147006-87147015
3	CEBPB	chr7:87146463-87146530	K562	blood:	n/a	n/a
4	CEBPB	chr7:87155135-87155505	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr7:87146873-87147161	HepG2	liver:	n/a	chr7:87147004-87147017 chr7:87147005-87147016 chr7:87147004-87147015 chr7:87147006-87147015
6	CEBPB	chr7:87146851-87147155	IMR90	lung:	n/a	chr7:87147004-87147017 chr7:87147005-87147016 chr7:87147004-87147015 chr7:87147006-87147015
7	CTCF	chr7:87145443-87145494	MCF-7	breast:	n/a	n/a
8	MAX	chr7:87155669-87155691	NB4	blood:	n/a	chr7:87155675-87155685
9	MXI1	chr7:87141967-87142792	SK-N-SH	brain:	n/a	n/a
10	MYC	chr7:87152490-87152526	MCF-7	breast:	n/a	n/a
11	MYC	chr7:87152814-87152886	MCF-7	breast:	n/a	n/a
12	MYC	chr7:87155059-87155154	MCF-7	breast:	n/a	n/a
13	NFYB	chr7:87143407-87143669	GM12878	blood:	n/a	n/a
14	POLR2A	chr7:87155363-87155398	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr7:87155073-87155109	MCF-7	breast:	n/a	n/a
16	POLR2A	chr7:87144535-87144671	MCF-7	breast:	n/a	n/a
17	SPI1	chr7:87154862-87155370	HL-60	blood:	n/a	n/a
18	STAT3	chr7:87146380-87146388	MCF10A-Er-Src	breast:	n/a	n/a
19	STAT3	chr7:87147991-87148137	MCF10A-Er-Src	breast:	n/a	n/a
20	STAT3	chr7:87154613-87154719	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:87137223..87139842-chr7:87141134..87143176,2	MCF-7	breast:
2	chr7:87144442..87146870-chr7:87147869..87150124,2	MCF-7	breast:
3	chr7:87150407..87152257-chr7:87154852..87156651,2	K562	blood:
4	chr7:87151583..87154349-chr7:87159070..87161471,3	K562	blood:
5	chr7:87148081..87150146-chr7:87152019..87153582,2	MCF-7	breast:
6	chr7:86945698..86948124-chr7:87141645..87143265,2	MCF-7	breast:
7	chr7:87155480..87157602-chr7:87159909..87161975,2	K562	blood:
8	chr7:87152849..87157602-chr7:87158405..87161409,4	K562	blood:

Variant related genes	Relation type
ABCB1	TF binding region
HNRNPA1P9	TF binding region
ENSG00000085563	chromatin interactions
ENSG00000231956	chromatin interactions

Extended variants
information (count: 595 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:595 , 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	rs6949448	chr7:87141814-87141815	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs573412784	chr7:87141863-87141864	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs56059510	chr7:87141872-87141873	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs550227388	chr7:87141952-87141953	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs377613944	chr7:87141960-87141961	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs569463228	chr7:87141975-87141976	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs117088408	chr7:87141989-87141990	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs539531709	chr7:87141997-87141998	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs530490928	chr7:87142047-87142048	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs566649488	chr7:87142085-87142086	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs150952375	chr7:87142138-87142139	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs117334763	chr7:87142184-87142185	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs189843925	chr7:87142255-87142256	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs139377583	chr7:87142324-87142325	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs557440909	chr7:87142406-87142407	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs112292979	chr7:87142449-87142450	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs73705238	chr7:87142474-87142475	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs367757233	chr7:87142480-87142481	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs150034146	chr7:87142547-87142548	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs112758471	chr7:87142558-87142559	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs77906139	chr7:87142559-87142560	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs70953648	chr7:87142560-87142561	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs10661738	chr7:87142563-87142564	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs545262042	chr7:87142702-87142703	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs530708817	chr7:87142818-87142819	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs80186165	chr7:87142826-87142827	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs192790541	chr7:87142968-87142969	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs77467699	chr7:87142974-87142975	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs146648360	chr7:87143025-87143026	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs370309873	chr7:87143051-87143052	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs565171620	chr7:87143067-87143068	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs4148751	chr7:87143153-87143154	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs558194603	chr7:87143164-87143165	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs185229127	chr7:87143179-87143180	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs28401801	chr7:87143255-87143256	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs4148750	chr7:87143275-87143276	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs28401800	chr7:87143322-87143323	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs112764127	chr7:87143357-87143358	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs570759551	chr7:87143375-87143376	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs530045510	chr7:87143400-87143401	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs181795278	chr7:87143418-87143419	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs557434578	chr7:87143431-87143432	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs186334598	chr7:87143500-87143501	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs1922243	chr7:87143504-87143505	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs28401799	chr7:87143524-87143525	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs187990611	chr7:87143578-87143579	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs144995659	chr7:87143589-87143590	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs565192798	chr7:87143598-87143599	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs564357223	chr7:87143687-87143688	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs577157266	chr7:87143694-87143695	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
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
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20067559	CNVD
Biliary cancer	19435499	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
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
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Neurodevelopmental disorder	22521361	CNVD
Metanephric adenoma	20802469	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	16616336	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Prostate cancer	22341455	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:87132600-87151400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr7:87132800-87153400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr7:87133400-87164400	Weak transcription	Duodenum Mucosa	Duodenum
4	chr7:87133600-87149600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr7:87134400-87150200	Strong transcription	Primary T cells from cord blood	blood
6	chr7:87134800-87144800	Strong transcription	Placenta	Placenta
7	chr7:87135400-87145200	Weak transcription	Spleen	Spleen
8	chr7:87135400-87198000	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr7:87137200-87142000	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr7:87137200-87144000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr7:87137200-87147400	Strong transcription	Liver	Liver
12	chr7:87138400-87173400	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr7:87138800-87142400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr7:87138800-87144000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr7:87138800-87144600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr7:87138800-87145800	Weak transcription	Fetal Intestine Large	intestine
17	chr7:87138800-87160600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr7:87138800-87185000	Weak transcription	Primary B cells from cord blood	blood
19	chr7:87139000-87142000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr7:87139400-87142200	Weak transcription	Primary hematopoietic stem cells	blood
21	chr7:87139400-87211000	Weak transcription	Primary B cells from peripheral blood	blood
22	chr7:87139600-87197800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr7:87139800-87143400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr7:87139800-87144200	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr7:87140000-87142000	Weak transcription	Brain Germinal Matrix	brain
26	chr7:87140200-87142200	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr7:87140600-87142400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr7:87140800-87142600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr7:87141000-87143000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr7:87141200-87143200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr7:87141400-87144200	Weak transcription	HepG2	liver
32	chr7:87141600-87142800	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr7:87141600-87144600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:87141800-87172800	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr7:87142000-87142400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr7:87142000-87142400	Enhancers	Brain Germinal Matrix	brain
37	chr7:87142000-87142400	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr7:87142000-87143800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr7:87142000-87144800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr7:87142200-87142800	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr7:87142200-87144600	Strong transcription	Primary hematopoietic stem cells	blood
42	chr7:87142400-87143400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr7:87142400-87143400	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr7:87142400-87144000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr7:87142400-87144400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr7:87142400-87146000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr7:87142600-87143400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr7:87142800-87143400	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr7:87143000-87143200	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr7:87143000-87143800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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