Variant report

Variant	nsv966781
Chromosome Location	chr7:38694728-38696473
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:38695536-38695615	GM13976	blood:	n/a	n/a
2	POLR2A	chr7:38695479-38695595	MCF-7	breast:	n/a	n/a
3	POLR2A	chr7:38695492-38695553	MCF-7	breast:	n/a	n/a
4	POLR2A	chr7:38694774-38694863	HepG2	liver:	n/a	n/a
5	POLR2A	chr7:38695844-38695916	MCF-7	breast:	n/a	n/a
6	POLR2A	chr7:38694761-38694850	A549	lung:	n/a	n/a
7	POLR2A	chr7:38694659-38694900	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr7:38696232-38696248	MCF-7	breast:	n/a	n/a
9	POLR2A	chr7:38694779-38694857	A549	lung:	n/a	n/a
10	POLR2A	chr7:38694745-38694876	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr7:38694769-38694859	A549	lung:	n/a	n/a
12	POLR2A	chr7:38695826-38695833	MCF-7	breast:	n/a	n/a
13	POLR2A	chr7:38694763-38694858	HepG2	liver:	n/a	n/a
14	POLR2A	chr7:38694743-38694880	A549	lung:	n/a	n/a
15	STAT3	chr7:38694551-38694751	MCF10A-Er-Src	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:38695932-38695982	HRPEpiC	eye:	n/a
2	chr7:38695932-38695982	MCF10A-Er-Src	breast:	n/a
3	chr7:38695932-38695982	AoSMC	blood vessel:	n/a
4	chr7:38695932-38695982	HAEpiC	amniotic membrane:	n/a
5	chr7:38695932-38695982	H1-hESC	embryonic stem cell:	embryo
6	chr7:38695932-38695982	NH-A	brain:	n/a
7	chr7:38695932-38695982	SK-N-SH	brain:	n/a
8	chr7:38695932-38695982	BJ	skin:	n/a
9	chr7:38695932-38695982	PFSK-1	brain:	n/a
10	chr7:38695932-38695982	GM12878	blood:	n/a
11	chr7:38695932-38695982	NHBE	bronchial:	n/a
12	chr7:38695932-38695982	NHDF-neo	bronchial:	n/a
13	chr7:38695932-38695982	HCF	heart:	n/a
14	chr7:38695932-38695982	SAEC	small airway:	n/a
15	chr7:38695932-38695982	PANC-1	pancreas:	n/a
16	chr7:38695932-38695982	HUVEC	blood vessel:	n/a
17	chr7:38695932-38695982	AG09309	skin:	n/a
18	chr7:38695932-38695982	CMK	blood:	n/a
19	chr7:38695932-38695982	T-47D	breast:	n/a
20	chr7:38695932-38695982	HIPEpiC	eye:	n/a
21	chr7:38695932-38695982	GM06990	blood:	n/a
22	chr7:38695932-38695982	NB4	blood:	n/a
23	chr7:38695932-38695982	HNPCEpiC	eye:	n/a
24	chr7:38695932-38695982	SK-N-MC	brain:	n/a
25	chr7:38695932-38695982	HRCEpiC	kidney:	n/a
26	chr7:38695932-38695982	GM12891	blood:	n/a
27	chr7:38695932-38695982	Caco-2	colon:	n/a
28	chr7:38695932-38695982	ECC-1	luminal epithelium:	n/a
29	chr7:38695932-38695982	SK-N-SH_RA	brain:	n/a
30	chr7:38695932-38695982	Jurkat	blood:	n/a
31	chr7:38695932-38695982	AG04449	skin:	fetal
32	chr7:38695932-38695982	AG10803	skin:	n/a
33	chr7:38695932-38695982	U87	brain:	n/a
34	chr7:38695932-38695982	SKMC	muscle:	n/a
35	chr7:38695932-38695982	Hepatocyte	liver:	n/a
36	chr7:38695932-38695982	HMEC	breast:	n/a
37	chr7:38695932-38695982	IMR90	lung:	fetal
38	chr7:38695932-38695982	ovcar-3	ovarian:	n/a
39	chr7:38695932-38695982	NT2-D1	testis:	n/a
40	chr7:38695932-38695982	HEK293	kidney:	embryo
41	chr7:38695932-38695982	HCT-116	colon:	n/a
42	chr7:38695932-38695982	AG09319	gingival:	n/a
43	chr7:38695932-38695982	K562	blood:	n/a
44	chr7:38695932-38695982	LNCaP	prostate:	n/a
45	chr7:38695932-38695982	Hela-S3	cervix:	n/a
46	chr7:38695932-38695982	HCM	heart:	n/a
47	chr7:38695932-38695982	HRE	kidney:	n/a
48	chr7:38695932-38695982	GM12892	blood:	n/a
49	chr7:38695932-38695982	ProgFib	skin:	n/a
50	chr7:38695932-38695982	MCF-7	breast:	n/a

No data

Variant related genes	Relation type
KRT8P20	TF binding region
KRT8P20	CpG island

Extended variants
information (count: 78 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546375535	chr7:38694767-38694768	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs139850485	chr7:38694820-38694821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531421298	chr7:38694832-38694833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs541878448	chr7:38694857-38694858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs11767436	chr7:38694901-38694902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs561691105	chr7:38694923-38694924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs188761885	chr7:38694944-38694945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs547382176	chr7:38694959-38694960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs180739149	chr7:38694992-38694993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533023923	chr7:38694998-38694999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs141825751	chr7:38695000-38695001	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs569043506	chr7:38695021-38695022	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs111748240	chr7:38695029-38695030	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs368141427	chr7:38695042-38695043	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs117869503	chr7:38695050-38695051	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs557758619	chr7:38695067-38695068	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs534151758	chr7:38695100-38695101	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs183706216	chr7:38695123-38695124	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs2392590	chr7:38695129-38695130	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs374357867	chr7:38695133-38695134	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs546115741	chr7:38695144-38695145	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs2392591	chr7:38695210-38695211	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs550199577	chr7:38695219-38695220	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs541964460	chr7:38695234-38695235	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs561723502	chr7:38695249-38695250	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs139948510	chr7:38695250-38695251	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs149853312	chr7:38695252-38695253	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs564261441	chr7:38695278-38695279	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs188470404	chr7:38695294-38695295	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs113905629	chr7:38695307-38695308	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs371813693	chr7:38695317-38695318	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs111501299	chr7:38695339-38695340	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs552917953	chr7:38695413-38695414	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs532562140	chr7:38695430-38695431	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs17171427	chr7:38695431-38695432	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs548281299	chr7:38695440-38695441	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs368530227	chr7:38695448-38695449	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs182069366	chr7:38695476-38695477	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs554121115	chr7:38695492-38695493	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs566184894	chr7:38695513-38695514	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs139728412	chr7:38695546-38695547	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs540150830	chr7:38695555-38695556	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs187433072	chr7:38695558-38695559	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs576721198	chr7:38695573-38695574	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs10226586	chr7:38695584-38695585	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs555545097	chr7:38695599-38695600	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs572095580	chr7:38695610-38695611	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs540701849	chr7:38695665-38695666	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs568548742	chr7:38695679-38695680	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs577537714	chr7:38695755-38695756	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	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
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
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	18632612	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Acute myeloid leukemia	17237825	CNVD
Breast cancer	17899364	CNVD
Breast cancer	20409316	CNVD
Acute monocytic leukemia	16498392	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	19455253	CNVD
Glioblastoma multiforme	22286061	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Sezary syndrome	18413736	CNVD
Gastric cancer	24379144	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:38694400-38698200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr7:38694800-38696400	Enhancers	Fetal Muscle Leg	muscle
3	chr7:38695000-38695800	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
4	chr7:38695400-38696000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:38695600-38696400	Enhancers	Fetal Muscle Trunk	muscle
6	chr7:38695600-38696400	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr7:38695600-38697000	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
8	chr7:38695600-38700000	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr7:38695600-38700200	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr7:38696000-38726000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr7:38696200-38696600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr7:38696200-38696800	Enhancers	Primary B cells from cord blood	blood
13	chr7:38696400-38696800	Enhancers	Primary T cells from cord blood	blood
14	chr7:38696400-38697000	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr7:38696400-38697000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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