Variant report

Variant	nsv970846
Chromosome Location	chr7:57467707-57475411
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:490)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:57472380-57472530	SK-N-SH_RA	brain:	n/a	n/a
2	FOXA1	chr7:57472215-57472591	T-47D	breast:	n/a	n/a
3	HA-E2F1	chr7:57471665-57472774	MCF-7	breast:	n/a	chr7:57472208-57472220 chr7:57472315-57472324
4	HCFC1	chr7:57472184-57472576	K562	blood:	n/a	n/a
5	HMGN3	chr7:57472483-57472683	K562	blood:	n/a	n/a
6	MAX	chr7:57472271-57472780	MCF-7	breast:	n/a	n/a
7	MAZ	chr7:57472375-57472377	K562	blood:	n/a	n/a
8	MAZ	chr7:57471779-57472033	K562	blood:	n/a	n/a
9	MXI1	chr7:57468651-57468675	Hela-S3	cervix:	n/a	n/a
10	MYC	chr7:57472562-57472833	MCF-7	breast:	n/a	n/a
11	POLR2A	chr7:57472912-57472924	Gliobla	brain:	n/a	n/a
12	POLR2A	chr7:57472587-57472689	MCF-7	breast:	n/a	n/a
13	REST	chr7:57472903-57472993	PANC-1	pancreas:	n/a	chr7:57472942-57472951 chr7:57472942-57472962 chr7:57472942-57472962 chr7:57472943-57472961
14	REST	chr7:57472815-57473020	SK-N-SH	brain:	n/a	chr7:57472942-57472951 chr7:57472942-57472962 chr7:57472942-57472962 chr7:57472943-57472961
15	SIX5	chr7:57472277-57472442	K562	blood:	n/a	chr7:57472386-57472395 chr7:57472388-57472397
16	ZNF143	chr7:57472197-57472592	K562	blood:	n/a	chr7:57472443-57472458 chr7:57472517-57472535 chr7:57472386-57472395

(count:490 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:57472709-57472759	GM12892	blood:	n/a
2	chr7:57472222-57472272	HepG2	liver:	n/a
3	chr7:57472709-57472759	GM12892	blood:	n/a
4	chr7:57472222-57472272	HepG2	liver:	n/a
5	chr7:57472959-57473009	U87	brain:	n/a
6	chr7:57472222-57472272	HL-60	blood:	n/a
7	chr7:57472959-57473009	A549	lung:	n/a
8	chr7:57475093-57475143	ECC-1	luminal epithelium:	n/a
9	chr7:57468369-57468419	NT2-D1	testis:	n/a
10	chr7:57475093-57475143	SK-N-SH_RA	brain:	n/a
11	chr7:57472222-57472272	HRPEpiC	eye:	n/a
12	chr7:57472959-57473009	RPTEC	kidney:	n/a
13	chr7:57475093-57475143	NHDF-neo	bronchial:	n/a
14	chr7:57472709-57472759	ECC-1	luminal epithelium:	n/a
15	chr7:57472504-57472554	HRPEpiC	eye:	n/a
16	chr7:57472222-57472272	PrEC	prostate:	n/a
17	chr7:57475093-57475143	HNPCEpiC	eye:	n/a
18	chr7:57471759-57471809	NH-A	brain:	n/a
19	chr7:57475093-57475143	HUVEC	blood vessel:	n/a
20	chr7:57472367-57472417	HUVEC	blood vessel:	n/a
21	chr7:57468369-57468419	NB4	blood:	n/a
22	chr7:57472959-57473009	HAEpiC	amniotic membrane:	n/a
23	chr7:57472367-57472417	SK-N-MC	brain:	n/a
24	chr7:57472709-57472759	HRPEpiC	eye:	n/a
25	chr7:57472222-57472272	HCT-116	colon:	n/a
26	chr7:57468369-57468419	PFSK-1	brain:	n/a
27	chr7:57472504-57472554	ovcar-3	ovarian:	n/a
28	chr7:57472504-57472554	NHBE	bronchial:	n/a
29	chr7:57472959-57473009	AG04450	lung:	fetal
30	chr7:57472222-57472272	Caco-2	colon:	n/a
31	chr7:57468369-57468419	Hela-S3	cervix:	n/a
32	chr7:57472367-57472417	HNPCEpiC	eye:	n/a
33	chr7:57472222-57472272	HUVEC	blood vessel:	n/a
34	chr7:57472709-57472759	Hela-S3	cervix:	n/a
35	chr7:57472222-57472272	Hepatocyte	liver:	n/a
36	chr7:57468369-57468419	GM12892	blood:	n/a
37	chr7:57471759-57471809	H1-hESC	embryonic stem cell:	embryo
38	chr7:57468369-57468419	HCF	heart:	n/a
39	chr7:57472959-57473009	AG04449	skin:	fetal
40	chr7:57472222-57472272	NHDF-neo	bronchial:	n/a
41	chr7:57472367-57472417	NHDF-neo	bronchial:	n/a
42	chr7:57471759-57471809	HCT-116	colon:	n/a
43	chr7:57472959-57473009	GM12878	blood:	n/a
44	chr7:57468369-57468419	HCT-116	colon:	n/a
45	chr7:57472709-57472759	SK-N-SH_RA	brain:	n/a
46	chr7:57472709-57472759	NH-A	brain:	n/a
47	chr7:57468369-57468419	HPAEpiC	pulmonary alveolar:	n/a
48	chr7:57472959-57473009	LNCaP	prostate:	n/a
49	chr7:57472504-57472554	AG04450	lung:	fetal
50	chr7:57471759-57471809	T-47D	breast:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF716-3	chr7:57474787-57474876	NONHSAT120831

miRNA name	Chromosome Location	mirBase accession
hsa-miR-3147	chr7:57472736-57472759	MIMAT0015019

No data

Variant related genes	Relation type
MIR3147	TF binding region
MIR3147	CpG island

Extended variants
information (count: 167 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:167 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552200436	chr7:57467734-57467735	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs570788842	chr7:57467736-57467737	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs538183503	chr7:57467744-57467745	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs556305722	chr7:57467841-57467842	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs374628512	chr7:57467844-57467845	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs139776188	chr7:57467921-57467922	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs6961333	chr7:57467930-57467931	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs553843880	chr7:57467940-57467941	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs183946361	chr7:57467954-57467955	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs6961458	chr7:57467999-57468000	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs545809636	chr7:57468014-57468015	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs564096917	chr7:57468015-57468016	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs12111876	chr7:57468030-57468031	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs12674021	chr7:57468066-57468067	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs73360827	chr7:57468080-57468081	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs529088698	chr7:57468093-57468094	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs188941733	chr7:57468125-57468126	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs560632824	chr7:57468129-57468130	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs527809702	chr7:57468150-57468151	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs552138906	chr7:57468166-57468167	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs570528941	chr7:57468239-57468240	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs116126659	chr7:57468257-57468258	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs550067699	chr7:57468268-57468269	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs568522456	chr7:57468274-57468275	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs536041138	chr7:57468349-57468350	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs554114288	chr7:57468383-57468384	ZNF genes & repeats	CpG island	1 gene(s)	Overlapped CNVs	n/a
27	rs565743871	chr7:57468403-57468404	ZNF genes & repeats	CpG island	1 gene(s)	Overlapped CNVs	n/a
28	rs192422434	chr7:57468405-57468406	ZNF genes & repeats	CpG island	1 gene(s)	Overlapped CNVs	n/a
29	rs184394226	chr7:57468441-57468442	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs576127820	chr7:57468460-57468461	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs562548225	chr7:57468461-57468462	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs188698250	chr7:57468502-57468503	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs573892416	chr7:57468503-57468504	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs541198894	chr7:57468506-57468507	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs10271587	chr7:57468513-57468514	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs527746939	chr7:57468534-57468535	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs545916174	chr7:57468559-57468560	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs564094434	chr7:57468594-57468595	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs531162287	chr7:57468614-57468615	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs531608179	chr7:57468629-57468630	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs549950433	chr7:57468631-57468632	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs545752149	chr7:57468715-57468716	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs146608740	chr7:57468721-57468722	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs870290	chr7:57468724-57468725	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs140156131	chr7:57468745-57468746	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs570974066	chr7:57468755-57468756	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs533759259	chr7:57468772-57468773	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs149902952	chr7:57468809-57468810	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs547605404	chr7:57468889-57468890	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs567341569	chr7:57468913-57468914	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	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
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	CNVD
Biliary cancer	19435499	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Glioma	17634744	CNVD
Oral squamous cell carcinoma	19276369	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Lung cancer	20031968	CNVD
Glioblastoma	17090523	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Glioma	17123091	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:57465400-57468800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:57465800-57468600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr7:57468200-57469000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
4	chr7:57471200-57471400	Active TSS	Skeletal Muscle Male	skeletal muscle
5	chr7:57471200-57471400	Bivalent Enhancer	Stomach Smooth Muscle	stomach
6	chr7:57471200-57472000	Active TSS	Brain Anterior Caudate	brain
7	chr7:57471200-57473200	ZNF genes & repeats	Pancreas	Pancrea
8	chr7:57471200-57473200	Active TSS	Rectal Smooth Muscle	rectum
9	chr7:57471400-57471600	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
10	chr7:57471400-57471600	Enhancers	Ovary	ovary
11	chr7:57471400-57471800	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
12	chr7:57471400-57472000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr7:57471400-57472200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
14	chr7:57471400-57472600	Active TSS	Brain Cingulate Gyrus	brain
15	chr7:57471400-57472800	Active TSS	Brain Angular Gyrus	brain
16	chr7:57471400-57473000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr7:57471400-57473000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr7:57471400-57473000	ZNF genes & repeats	Gastric	stomach
19	chr7:57471400-57473200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
20	chr7:57471400-57473200	ZNF genes & repeats	Adipose Nuclei	Adipose
21	chr7:57471400-57473200	ZNF genes & repeats	Liver	Liver
22	chr7:57471600-57472200	Active TSS	Brain Inferior Temporal Lobe	brain
23	chr7:57471600-57472400	ZNF genes & repeats	Brain Hippocampus Middle	brain
24	chr7:57471600-57472800	Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr7:57471600-57473000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr7:57471600-57473000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr7:57471600-57473000	Active TSS	Brain Substantia Nigra	brain
28	chr7:57471600-57473000	Active TSS	Left Ventricle	heart
29	chr7:57471600-57473000	Active TSS	Ovary	ovary
30	chr7:57471600-57473000	Active TSS	Rectal Mucosa Donor 29	rectum
31	chr7:57471600-57473200	Active TSS	Colon Smooth Muscle	Colon
32	chr7:57471600-57473200	Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr7:57471600-57473200	ZNF genes & repeats	Esophagus	oesophagus
34	chr7:57471600-57473200	Active TSS	Right Atrium	heart
35	chr7:57471600-57473400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
36	chr7:57471800-57472400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
37	chr7:57471800-57472800	ZNF genes & repeats	Spleen	Spleen
38	chr7:57471800-57473200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
39	chr7:57471800-57473200	Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr7:57472000-57473200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr7:57472000-57473200	ZNF genes & repeats	Brain Anterior Caudate	brain
42	chr7:57472200-57473000	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
43	chr7:57472200-57473200	Active TSS	Stomach Smooth Muscle	stomach
44	chr7:57472400-57473000	Active TSS	Brain Hippocampus Middle	brain
45	chr7:57472600-57473200	ZNF genes & repeats	Brain Cingulate Gyrus	brain
46	chr7:57473000-57473400	Enhancers	Left Ventricle	heart

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