Variant report

Variant	nsv983307
Chromosome Location	chr12:34178625-34183473
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr12:34181531-34181997	MCF-7	breast:	n/a	n/a
2	POLR2A	chr12:34180837-34181053	K562	blood:	n/a	n/a
3	POLR2A	chr12:34180807-34180937	MCF10A-Er-Src	breast:	n/a	n/a
4	STAT3	chr12:34183326-34183519	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	chr12:34181037-34181087	ProgFib	skin:	n/a
2	chr12:34181037-34181087	BJ	skin:	n/a
3	chr12:34181037-34181087	H1-hESC	embryonic stem cell:	embryo
4	chr12:34181037-34181087	AG09309	skin:	n/a
5	chr12:34181037-34181087	BE2_C	brain:	n/a
6	chr12:34181037-34181087	SKMC	muscle:	n/a
7	chr12:34181037-34181087	RPTEC	kidney:	n/a
8	chr12:34181037-34181087	T-47D	breast:	n/a
9	chr12:34181037-34181087	PFSK-1	brain:	n/a
10	chr12:34181037-34181087	NT2-D1	testis:	n/a
11	chr12:34181037-34181087	AG04449	skin:	fetal
12	chr12:34181037-34181087	A549	lung:	n/a
13	chr12:34181037-34181087	U87	brain:	n/a
14	chr12:34181037-34181087	MCF10A-Er-Src	breast:	n/a
15	chr12:34181037-34181087	LNCaP	prostate:	n/a
16	chr12:34181037-34181087	NHBE	bronchial:	n/a
17	chr12:34181037-34181087	SK-N-SH	brain:	n/a
18	chr12:34181037-34181087	GM06990	blood:	n/a
19	chr12:34181037-34181087	PrEC	prostate:	n/a
20	chr12:34181037-34181087	NHDF-neo	bronchial:	n/a
21	chr12:34181037-34181087	K562	blood:	n/a
22	chr12:34181037-34181087	AoSMC	blood vessel:	n/a
23	chr12:34181037-34181087	HNPCEpiC	eye:	n/a
24	chr12:34181037-34181087	HEK293	kidney:	embryo
25	chr12:34181037-34181087	SK-N-SH_RA	brain:	n/a
26	chr12:34181037-34181087	GM12892	blood:	n/a
27	chr12:34181037-34181087	HPAEpiC	pulmonary alveolar:	n/a
28	chr12:34181037-34181087	HRPEpiC	eye:	n/a
29	chr12:34181037-34181087	ovcar-3	ovarian:	n/a
30	chr12:34181037-34181087	Hepatocyte	liver:	n/a
31	chr12:34181037-34181087	GM12891	blood:	n/a
32	chr12:34181037-34181087	HCM	heart:	n/a
33	chr12:34181037-34181087	NH-A	brain:	n/a
34	chr12:34181037-34181087	SK-N-MC	brain:	n/a
35	chr12:34181037-34181087	HIPEpiC	eye:	n/a
36	chr12:34181037-34181087	IMR90	lung:	fetal
37	chr12:34181037-34181087	Jurkat	blood:	n/a
38	chr12:34181037-34181087	AG04450	lung:	fetal
39	chr12:34181037-34181087	Hela-S3	cervix:	n/a
40	chr12:34181037-34181087	MCF-7	breast:	n/a
41	chr12:34181037-34181087	Caco-2	colon:	n/a
42	chr12:34181037-34181087	HAEpiC	amniotic membrane:	n/a
43	chr12:34181037-34181087	CMK	blood:	n/a
44	chr12:34181037-34181087	ECC-1	luminal epithelium:	n/a
45	chr12:34181037-34181087	HRCEpiC	kidney:	n/a
46	chr12:34181037-34181087	HUVEC	blood vessel:	n/a
47	chr12:34181037-34181087	HCPEpiC	choroid plexus:	n/a
48	chr12:34181037-34181087	AG09319	gingival:	n/a
49	chr12:34181037-34181087	HCT-116	colon:	n/a
50	chr12:34181037-34181087	SAEC	small airway:	n/a

No data

Variant related genes	Relation type
ENSG00000264446	TF binding region
ENSG00000264446	CpG island

Extended variants
information (count: 166 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:166 , 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	rs552807525	chr12:34178628-34178629	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs571016570	chr12:34178692-34178693	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs79570124	chr12:34178702-34178703	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs149880150	chr12:34178733-34178734	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556090431	chr12:34178754-34178755	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs369014729	chr12:34178762-34178763	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs372398491	chr12:34178779-34178780	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs375455612	chr12:34178791-34178792	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs576278078	chr12:34178798-34178799	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs138466767	chr12:34178830-34178831	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565008457	chr12:34178836-34178837	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572149419	chr12:34178959-34178960	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373756547	chr12:34178973-34178974	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376693739	chr12:34178974-34178975	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs199700179	chr12:34178985-34178986	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370864522	chr12:34179034-34179035	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372903050	chr12:34179045-34179046	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200842600	chr12:34179046-34179047	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs377509986	chr12:34179080-34179081	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370309111	chr12:34179095-34179096	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs78273253	chr12:34179157-34179158	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs368635314	chr12:34179166-34179167	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560928942	chr12:34179199-34179200	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs140234919	chr12:34179211-34179212	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185875444	chr12:34179233-34179234	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375466130	chr12:34179253-34179254	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550400857	chr12:34179264-34179265	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556158211	chr12:34179267-34179268	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200821176	chr12:34179294-34179295	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532531658	chr12:34179316-34179317	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368406673	chr12:34179354-34179355	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372357537	chr12:34179358-34179359	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545011776	chr12:34179369-34179370	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565861105	chr12:34179391-34179392	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374962518	chr12:34179392-34179393	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs367903509	chr12:34179413-34179414	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs371450099	chr12:34179454-34179455	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs367613863	chr12:34179456-34179457	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553709023	chr12:34179470-34179471	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534786683	chr12:34179495-34179496	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374731792	chr12:34179502-34179503	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370166956	chr12:34179529-34179530	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373375014	chr12:34179535-34179536	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373209005	chr12:34179546-34179547	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571993592	chr12:34179577-34179578	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs377557149	chr12:34179605-34179606	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376642089	chr12:34179634-34179635	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201824550	chr12:34179648-34179649	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373989392	chr12:34179650-34179651	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201276321	chr12:34179675-34179676	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chordoma	18071362	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:34175800-34184200	Weak transcription	Spleen	Spleen
2	chr12:34176000-34178800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr12:34176000-34179000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr12:34176000-34186800	Weak transcription	Lung	lung
5	chr12:34176200-34178800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr12:34176200-34178800	Weak transcription	Thymus	Thymus
7	chr12:34176200-34178800	Weak transcription	Hela-S3	cervix
8	chr12:34176200-34179200	Weak transcription	Fetal Intestine Large	intestine
9	chr12:34176200-34179800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:34176200-34179800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr12:34176200-34179800	Weak transcription	HSMM	muscle
12	chr12:34176200-34180000	Weak transcription	Fetal Muscle Leg	muscle
13	chr12:34176200-34180000	Weak transcription	Left Ventricle	heart
14	chr12:34176200-34180000	Weak transcription	NHDF-Ad	bronchial
15	chr12:34176200-34181200	Weak transcription	Fetal Thymus	thymus
16	chr12:34176200-34182200	Weak transcription	Fetal Muscle Trunk	muscle
17	chr12:34176200-34182400	Weak transcription	Brain Hippocampus Middle	brain
18	chr12:34176200-34182400	Weak transcription	Brain Substantia Nigra	brain
19	chr12:34176200-34182400	Weak transcription	Right Ventricle	heart
20	chr12:34176200-34182600	Weak transcription	Pancreas	Pancrea
21	chr12:34176200-34182800	Weak transcription	Gastric	stomach
22	chr12:34176200-34183200	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr12:34176200-34184200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr12:34176200-34184200	Weak transcription	Esophagus	oesophagus
25	chr12:34176200-34184800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr12:34176200-34187200	Weak transcription	Ovary	ovary
27	chr12:34176400-34178800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr12:34176400-34178800	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr12:34176400-34179400	Weak transcription	Primary B cells from peripheral blood	blood
30	chr12:34176400-34179800	Weak transcription	Duodenum Mucosa	Duodenum
31	chr12:34176400-34179800	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr12:34176400-34180200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr12:34176400-34181200	Weak transcription	NH-A	brain
34	chr12:34176400-34182200	Weak transcription	Brain Anterior Caudate	brain
35	chr12:34176400-34182400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr12:34176400-34186800	Weak transcription	Primary T cells from cord blood	blood
37	chr12:34176400-34187200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr12:34176600-34179400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr12:34176600-34179800	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr12:34176600-34180800	Weak transcription	A549	lung
41	chr12:34176600-34182400	Weak transcription	Stomach Smooth Muscle	stomach
42	chr12:34176600-34183800	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr12:34176600-34183800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr12:34176600-34185200	Weak transcription	Primary hematopoietic stem cells	blood
45	chr12:34176600-34187200	Weak transcription	K562	blood
46	chr12:34176600-34187600	Weak transcription	Fetal Brain Male	brain
47	chr12:34176600-34190000	Weak transcription	Fetal Heart	heart
48	chr12:34176800-34179200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr12:34176800-34179200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr12:34176800-34181200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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