Variant report

Variant	nsv970548
Chromosome Location	chr7:86970387-86971284
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:13)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr7:86970899-86970906	GM12878	blood:	n/a	n/a
2	EBF1	chr7:86970732-86971146	GM12878	blood:	n/a	n/a
3	IRF1	chr7:86970972-86971171	K562	blood:	n/a	chr7:86971073-86971086 chr7:86971054-86971064 chr7:86971073-86971085 chr7:86971053-86971064 chr7:86971074-86971088 chr7:86971072-86971083 chr7:86971050-86971064 chr7:86971073-86971085 chr7:86971073-86971084 chr7:86971053-86971066 chr7:86971068-86971085 chr7:86971054-86971068 chr7:86971053-86971066 chr7:86971071-86971085
4	MAX	chr7:86970855-86970928	GM12878	blood:	n/a	n/a
5	MXI1	chr7:86970849-86971069	GM12878	blood:	n/a	n/a
6	POLR2A	chr7:86970484-86970491	MCF10A-Er-Src	breast:	n/a	n/a
7	RUNX3	chr7:86970752-86971169	GM12878	blood:	n/a	n/a
8	USF2	chr7:86970499-86970520	Hela-S3	cervix:	n/a	n/a
9	USF2	chr7:86970850-86971060	GM12878	blood:	n/a	n/a
10	WRNIP1	chr7:86970750-86970898	GM12878	blood:	n/a	n/a
11	WRNIP1	chr7:86971108-86971281	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:86970843-86970893	PANC-1	pancreas:	n/a
2	chr7:86970843-86970893	Hepatocyte	liver:	n/a
3	chr7:86970843-86970893	AG09309	skin:	n/a
4	chr7:86970843-86970893	SAEC	small airway:	n/a
5	chr7:86970843-86970893	AoSMC	blood vessel:	n/a
6	chr7:86970843-86970893	Caco-2	colon:	n/a
7	chr7:86970843-86970893	Jurkat	blood:	n/a
8	chr7:86970843-86970893	HCF	heart:	n/a
9	chr7:86970843-86970893	NHBE	bronchial:	n/a
10	chr7:86970843-86970893	HCPEpiC	choroid plexus:	n/a
11	chr7:86970843-86970893	SK-N-MC	brain:	n/a
12	chr7:86970843-86970893	NB4	blood:	n/a
13	chr7:86970843-86970893	HIPEpiC	eye:	n/a
14	chr7:86970843-86970893	ECC-1	luminal epithelium:	n/a
15	chr7:86970843-86970893	AG04449	skin:	fetal
16	chr7:86970843-86970893	GM12878	blood:	n/a
17	chr7:86970843-86970893	A549	lung:	n/a
18	chr7:86970843-86970893	GM06990	blood:	n/a
19	chr7:86970843-86970893	RPTEC	kidney:	n/a
20	chr7:86970843-86970893	SK-N-SH	brain:	n/a
21	chr7:86970843-86970893	HepG2	liver:	n/a
22	chr7:86970843-86970893	HRE	kidney:	n/a
23	chr7:86970843-86970893	NHDF-neo	bronchial:	n/a
24	chr7:86970843-86970893	NT2-D1	testis:	n/a
25	chr7:86970843-86970893	HCT-116	colon:	n/a
26	chr7:86970843-86970893	CMK	blood:	n/a
27	chr7:86970843-86970893	SKMC	muscle:	n/a
28	chr7:86970843-86970893	ProgFib	skin:	n/a
29	chr7:86970843-86970893	HUVEC	blood vessel:	n/a
30	chr7:86970843-86970893	BJ	skin:	n/a
31	chr7:86970843-86970893	HRPEpiC	eye:	n/a
32	chr7:86970843-86970893	H1-hESC	embryonic stem cell:	embryo
33	chr7:86970843-86970893	Hela-S3	cervix:	n/a
34	chr7:86970843-86970893	U87	brain:	n/a
35	chr7:86970843-86970893	AG09319	gingival:	n/a
36	chr7:86970843-86970893	HPAEpiC	pulmonary alveolar:	n/a
37	chr7:86970843-86970893	HCM	heart:	n/a
38	chr7:86970843-86970893	PrEC	prostate:	n/a
39	chr7:86970843-86970893	GM12892	blood:	n/a
40	chr7:86970843-86970893	HL-60	blood:	n/a
41	chr7:86970843-86970893	SK-N-SH_RA	brain:	n/a
42	chr7:86970843-86970893	T-47D	breast:	n/a
43	chr7:86970843-86970893	HEK293	kidney:	embryo
44	chr7:86970843-86970893	HEEpiC	esophagus:	n/a
45	chr7:86970843-86970893	ovcar-3	ovarian:	n/a
46	chr7:86970843-86970893	LNCaP	prostate:	n/a
47	chr7:86970843-86970893	HNPCEpiC	eye:	n/a
48	chr7:86970843-86970893	BE2_C	brain:	n/a
49	chr7:86970843-86970893	NH-A	brain:	n/a
50	chr7:86970843-86970893	MCF-7	breast:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:86945673..86950114-chr7:86965968..86970483,8	MCF-7	breast:

(count:13 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ABCB4-1	chr7:86970839-86971000	NONHSAT121825
2	lnc-ABCB4-1	chr7:86970839-86971000	ENSG00000182165
3	lnc-ABCB4-1	chr7:86970839-86971000	ENSG00000182165
4	lnc-ABCB4-1	chr7:86970839-86971000	XLOC_006516
5	lnc-ABCB4-1	chr7:86970839-86971000	XLOC_006516
6	lnc-ABCB4-1	chr7:86970839-86971000	ENSG00000182165
7	lnc-ABCB4-1	chr7:86970839-86971000	XLOC_006516
8	lnc-ABCB4-1	chr7:86970671-86971000	ENSG00000182165.13
9	lnc-ABCB4-1	chr7:86970839-86971000	NONHSAT121828
10	lnc-ABCB4-1	chr7:86970839-86971000	NONHSAT121830
11	lnc-ABCB4-1	chr7:86970954-86971000	NONHSAT121827
12	lnc-ABCB4-1	chr7:86970839-86971000	ENSG00000182165
13	lnc-ABCB4-1	chr7:86970839-86971000	NR_015381

No data

Variant related genes	Relation type
CROT	TF binding region
CROT	CpG island
TUSC2	miRNA target sites
NIN	miRNA target sites
NHP2L1	miRNA target sites
MAPRE2	miRNA target sites
C1orf63	miRNA target sites

Extended variants
information (count: 37 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs56181621	chr7:86970392-86970393	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs192106089	chr7:86970396-86970397	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs77316695	chr7:86970405-86970406	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs74470371	chr7:86970438-86970439	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs77826192	chr7:86970439-86970440	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs76030692	chr7:86970441-86970442	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs184196372	chr7:86970456-86970457	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs529554804	chr7:86970480-86970481	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs540976200	chr7:86970534-86970535	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs114597734	chr7:86970538-86970539	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs533011624	chr7:86970560-86970561	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs551174625	chr7:86970574-86970575	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs149742818	chr7:86970603-86970604	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs373540184	chr7:86970604-86970605	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs144017340	chr7:86970668-86970669	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs78868110	chr7:86970684-86970685	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
17	rs189903133	chr7:86970685-86970686	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
18	rs567519184	chr7:86970686-86970687	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
19	rs181173512	chr7:86970703-86970704	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
20	rs547732880	chr7:86970713-86970714	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
21	rs565917132	chr7:86970720-86970721	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
22	rs146850272	chr7:86970721-86970722	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
23	rs557970063	chr7:86970734-86970735	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
24	rs140645708	chr7:86970801-86970802	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
25	rs537210427	chr7:86970844-86970845	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
26	rs144530736	chr7:86970863-86970864	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
27	rs1128461	chr7:86970864-86970865	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs151123666	chr7:86970899-86970900	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
29	rs560029428	chr7:86970927-86970928	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs577489026	chr7:86970948-86970949	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs184584806	chr7:86971010-86971011	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs545028154	chr7:86971017-86971018	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs563331310	chr7:86971019-86971020	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs530624297	chr7:86971025-86971026	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs36118089	chr7:86971167-86971168	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs549168700	chr7:86971187-86971188	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs561078866	chr7:86971281-86971282	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:179 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:86951000-86972600	Weak transcription	Fetal Kidney	kidney
2	chr7:86958200-86970800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr7:86958400-86970400	Weak transcription	Pancreas	Pancrea
4	chr7:86958400-86972600	Weak transcription	Osteobl	bone
5	chr7:86958600-86971000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr7:86958800-86971200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr7:86958800-86972600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr7:86959000-86970400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr7:86959000-86973200	Weak transcription	A549	lung
10	chr7:86959000-86973400	Weak transcription	Brain Hippocampus Middle	brain
11	chr7:86959400-86970400	Weak transcription	Fetal Muscle Trunk	muscle
12	chr7:86959400-86970600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr7:86959400-86972600	Weak transcription	Brain Cingulate Gyrus	brain
14	chr7:86959400-86973800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr7:86959400-86973800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr7:86959400-86973800	Weak transcription	Thymus	Thymus
17	chr7:86959400-86974200	Weak transcription	Small Intestine	intestine
18	chr7:86959400-86974400	Weak transcription	Spleen	Spleen
19	chr7:86959600-86970400	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr7:86959600-86973000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr7:86959600-86973400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr7:86959600-86974200	Weak transcription	Colonic Mucosa	Colon
23	chr7:86959800-86971200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr7:86959800-86974200	Weak transcription	Esophagus	oesophagus
25	chr7:86959800-86974200	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr7:86960000-86971800	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr7:86960000-86972600	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr7:86960000-86973600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr7:86960400-86971200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr7:86960600-86970400	Weak transcription	Fetal Thymus	thymus
31	chr7:86960600-86971000	Weak transcription	HMEC	breast
32	chr7:86960600-86973800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr7:86960600-86974200	Weak transcription	Placenta	Placenta
34	chr7:86960600-86974200	Weak transcription	Lung	lung
35	chr7:86961200-86973400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr7:86963000-86972800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr7:86963600-86973800	Weak transcription	HSMM	muscle
38	chr7:86963600-86974200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr7:86964000-86970600	Weak transcription	Fetal Heart	heart
40	chr7:86964000-86971400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr7:86964000-86972600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr7:86964000-86974200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr7:86964400-86972600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr7:86964600-86973600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr7:86964600-86973800	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr7:86964800-86970600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr7:86965400-86970800	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr7:86965400-86970800	Weak transcription	NHLF	lung
49	chr7:86965400-86974000	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr7:86965400-86974200	Weak transcription	HSMMtube	muscle

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