Variant report

Variant	nsv981586
Chromosome Location	chr7:136622695-136626358
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD1	chr7:136624985-136625021	GM12878	blood:	n/a	n/a
2	GATA2	chr7:136622565-136622913	SH-SY5Y	brain:	n/a	n/a
3	GATA3	chr7:136622658-136622836	SH-SY5Y	brain:	n/a	n/a
4	MYC	chr7:136622756-136622791	GM12878	blood:	n/a	n/a
5	MYC	chr7:136622797-136622843	GM12878	blood:	n/a	n/a
6	NRF1	chr7:136622846-136622856	GM12878	blood:	n/a	n/a
7	POLR2A	chr7:136622194-136622913	H1-neurons	neurons:	n/a	n/a
8	POLR2A	chr7:136622994-136623117	A549	lung:	n/a	n/a
9	POLR2A	chr7:136622155-136622772	H1-neurons	neurons:	n/a	n/a
10	STAT3	chr7:136624586-136624595	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	chr7:136626256-136626306	SK-N-SH_RA	brain:	n/a
2	chr7:136626256-136626306	HCM	heart:	n/a
3	chr7:136626256-136626306	AoSMC	blood vessel:	n/a
4	chr7:136626256-136626306	ovcar-3	ovarian:	n/a
5	chr7:136626256-136626306	HCF	heart:	n/a
6	chr7:136626256-136626306	H1-hESC	embryonic stem cell:	embryo
7	chr7:136626256-136626306	A549	lung:	n/a
8	chr7:136626256-136626306	ECC-1	luminal epithelium:	n/a
9	chr7:136626256-136626306	GM12878	blood:	n/a
10	chr7:136626256-136626306	GM12892	blood:	n/a
11	chr7:136626256-136626306	K562	blood:	n/a
12	chr7:136626256-136626306	NHBE	bronchial:	n/a
13	chr7:136626256-136626306	HEEpiC	esophagus:	n/a
14	chr7:136626256-136626306	Hela-S3	cervix:	n/a
15	chr7:136626256-136626306	HCPEpiC	choroid plexus:	n/a
16	chr7:136626256-136626306	SKMC	muscle:	n/a
17	chr7:136626256-136626306	SK-N-MC	brain:	n/a
18	chr7:136626256-136626306	AG09309	skin:	n/a
19	chr7:136626256-136626306	HPAEpiC	pulmonary alveolar:	n/a
20	chr7:136626256-136626306	HMEC	breast:	n/a
21	chr7:136626256-136626306	Hepatocyte	liver:	n/a
22	chr7:136626256-136626306	PrEC	prostate:	n/a
23	chr7:136626256-136626306	HUVEC	blood vessel:	n/a
24	chr7:136626256-136626306	GM06990	blood:	n/a
25	chr7:136626256-136626306	IMR90	lung:	fetal
26	chr7:136626256-136626306	NT2-D1	testis:	n/a
27	chr7:136626256-136626306	AG04449	skin:	fetal
28	chr7:136626256-136626306	HRPEpiC	eye:	n/a
29	chr7:136626256-136626306	NHDF-neo	bronchial:	n/a
30	chr7:136626256-136626306	AG09319	gingival:	n/a
31	chr7:136626256-136626306	T-47D	breast:	n/a
32	chr7:136626256-136626306	Jurkat	blood:	n/a
33	chr7:136626256-136626306	MCF10A-Er-Src	breast:	n/a
34	chr7:136626256-136626306	CMK	blood:	n/a
35	chr7:136626256-136626306	RPTEC	kidney:	n/a
36	chr7:136626256-136626306	PFSK-1	brain:	n/a
37	chr7:136626256-136626306	HRCEpiC	kidney:	n/a
38	chr7:136626256-136626306	PANC-1	pancreas:	n/a
39	chr7:136626256-136626306	HAEpiC	amniotic membrane:	n/a
40	chr7:136626256-136626306	BE2_C	brain:	n/a
41	chr7:136626256-136626306	ProgFib	skin:	n/a
42	chr7:136626256-136626306	HIPEpiC	eye:	n/a
43	chr7:136626256-136626306	GM19239	blood:	n/a
44	chr7:136626256-136626306	AG04450	lung:	fetal
45	chr7:136626256-136626306	HepG2	liver:	n/a
46	chr7:136626256-136626306	HEK293	kidney:	embryo
47	chr7:136626256-136626306	U87	brain:	n/a
48	chr7:136626256-136626306	BJ	skin:	n/a
49	chr7:136626256-136626306	SAEC	small airway:	n/a
50	chr7:136626256-136626306	HNPCEpiC	eye:	n/a

No data

Variant related genes	Relation type
KRT8P51	TF binding region
KRT8P51	CpG island

Extended variants
information (count: 152 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:152 , 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	rs531391109	chr7:136622695-136622696	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs184178498	chr7:136622705-136622706	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs189325772	chr7:136622721-136622722	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs11765746	chr7:136622747-136622748	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547017383	chr7:136622793-136622794	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs182017994	chr7:136622815-136622816	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs151006520	chr7:136622828-136622829	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs142194799	chr7:136622839-136622840	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs569771144	chr7:136622867-136622868	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs538301052	chr7:136622873-136622874	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs114852281	chr7:136622895-136622896	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs578067311	chr7:136622905-136622906	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs116788051	chr7:136622939-136622940	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs145943306	chr7:136622942-136622943	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs186254611	chr7:136622945-136622946	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs534677258	chr7:136622962-136622963	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs574345978	chr7:136622964-136622965	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs112485957	chr7:136622967-136622968	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs67514280	chr7:136623016-136623017	Genic enhancers Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs563044455	chr7:136623021-136623022	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs576578396	chr7:136623038-136623039	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs147807782	chr7:136623039-136623040	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs190615949	chr7:136623040-136623041	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs527422738	chr7:136623130-136623131	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs141184073	chr7:136623181-136623182	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs181493951	chr7:136623211-136623212	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs36210734	chr7:136623214-136623215	Genic enhancers Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs150297808	chr7:136623215-136623216	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs369282891	chr7:136623218-136623219	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs569965410	chr7:136623234-136623235	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs545074432	chr7:136623291-136623292	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs552393266	chr7:136623295-136623296	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs112797617	chr7:136623298-136623299	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs186623236	chr7:136623342-136623343	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs534300503	chr7:136623386-136623387	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs554164536	chr7:136623387-136623388	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs567687638	chr7:136623397-136623398	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs536912455	chr7:136623401-136623402	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556881616	chr7:136623417-136623418	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs576701421	chr7:136623426-136623427	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545269997	chr7:136623434-136623435	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs137876422	chr7:136623439-136623440	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs571999436	chr7:136623462-136623463	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376047803	chr7:136623467-136623468	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs79416180	chr7:136623471-136623472	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529625348	chr7:136623489-136623490	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs543040031	chr7:136623498-136623499	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563429699	chr7:136623502-136623503	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs575700959	chr7:136623526-136623527	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532481169	chr7:136623546-136623547	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	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
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Melanoma	19188590	CNVD
Glioblastoma multiforme	18628472	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant melanoma	17260012	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Low-grade fibromyxoid sarcoma	21536545	CNVD
Breast cancer	16272173	CNVD
Myxofibrosarcoma	16751306	CNVD
Stuttering	21108403	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Neuroticism	17667963	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute myeloid leukemia	17237825	CNVD
Esophageal cancer	21851588	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:136607800-136638000	Weak transcription	NHLF	lung
2	chr7:136610800-136623400	Weak transcription	Colon Smooth Muscle	Colon
3	chr7:136611000-136623200	Weak transcription	Left Ventricle	heart
4	chr7:136620600-136624800	Enhancers	Fetal Heart	heart
5	chr7:136622600-136623000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr7:136622600-136623000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr7:136623000-136623200	Enhancers	Rectal Smooth Muscle	rectum
8	chr7:136623000-136623400	Enhancers	Right Ventricle	heart
9	chr7:136623000-136623600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr7:136623200-136623600	Enhancers	Left Ventricle	heart
11	chr7:136623200-136623600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr7:136623400-136627800	Enhancers	Colon Smooth Muscle	Colon
13	chr7:136623400-136641600	Weak transcription	Right Ventricle	heart
14	chr7:136623600-136626200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr7:136623600-136626400	Enhancers	Rectal Smooth Muscle	rectum
16	chr7:136623600-136641600	Weak transcription	Left Ventricle	heart
17	chr7:136623800-136624200	Enhancers	Stomach Smooth Muscle	stomach
18	chr7:136624800-136625600	Flanking Active TSS	Fetal Heart	heart
19	chr7:136625400-136629000	Enhancers	Placenta Amnion	Placenta Amnion
20	chr7:136625600-136628000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr7:136625600-136628600	Enhancers	Fetal Heart	heart
22	chr7:136625800-136626200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr7:136626000-136628200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr7:136626200-136628000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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