Variant report

Variant	nsv979095
Chromosome Location	chr2:111381841-111392310
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:32)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:32 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:111387416-111387443	A549	lung:	n/a	n/a
2	CTCF	chr2:111388157-111388230	LNCaP	prostate:	n/a	n/a
3	CTCF	chr2:111391703-111391729	LNCaP	prostate:	n/a	n/a
4	CTCF	chr2:111384985-111385026	Medullo	brain:	n/a	n/a
5	CTCF	chr2:111391660-111391711	ProgFib	skin:	n/a	n/a
6	CTCF	chr2:111388714-111388787	Medullo	brain:	n/a	n/a
7	FOSL2	chr2:111387409-111387723	HepG2	liver:	n/a	n/a
8	FOSL2	chr2:111391395-111391762	HepG2	liver:	n/a	n/a
9	FOXA1	chr2:111390931-111391218	HepG2	liver:	n/a	n/a
10	PBX3	chr2:111391603-111391735	GM12878	blood:	n/a	n/a
11	POLR2A	chr2:111391602-111391643	A549	lung:	n/a	n/a
12	POLR2A	chr2:111386702-111386756	A549	lung:	n/a	n/a
13	POLR2A	chr2:111385852-111385884	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr2:111392145-111392399	K562	blood:	n/a	n/a
15	POLR2A	chr2:111391938-111393100	K562	blood:	n/a	n/a
16	POLR2A	chr2:111384094-111384331	ProgFib	skin:	n/a	n/a
17	POLR2A	chr2:111392239-111392241	A549	lung:	n/a	n/a
18	POLR2A	chr2:111392214-111392245	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr2:111391513-111391700	Gliobla	brain:	n/a	n/a
20	POLR2A	chr2:111387140-111387275	K562	blood:	n/a	n/a
21	POLR2A	chr2:111384252-111384261	MCF-7	breast:	n/a	n/a
22	POLR2A	chr2:111387644-111387861	K562	blood:	n/a	n/a
23	POLR2A	chr2:111383556-111383587	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr2:111385423-111386234	K562	blood:	n/a	n/a
25	POLR2A	chr2:111383419-111383430	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr2:111386622-111386752	MCF-7	breast:	n/a	n/a
27	POLR2A	chr2:111387664-111387675	K562	blood:	n/a	n/a
28	POLR2A	chr2:111387631-111387775	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr2:111392299-111392320	A549	lung:	n/a	n/a
30	POLR2A	chr2:111387579-111387595	MCF-7	breast:	n/a	n/a
31	TBL1XR1	chr2:111392243-111392399	K562	blood:	n/a	n/a
32	ZBTB33	chr2:111391517-111391808	K562	blood:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000216867	TF binding region

Extended variants
information (count: 193 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:193 , 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	rs370616523	chr2:111381966-111381967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs556810790	chr2:111382121-111382122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546299324	chr2:111382280-111382281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566723698	chr2:111382370-111382371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559074467	chr2:111382439-111382440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs529180856	chr2:111384335-111384336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191615458	chr2:111384432-111384433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568755934	chr2:111384516-111384517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537938226	chr2:111384566-111384567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs557866028	chr2:111384577-111384578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571288165	chr2:111384639-111384640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs62162623	chr2:111384650-111384651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370948656	chr2:111384714-111384715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534170984	chr2:111384878-111384879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs553897501	chr2:111384903-111384904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574234998	chr2:111384977-111384978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs376083525	chr2:111384992-111384993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556793684	chr2:111385004-111385005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576751978	chr2:111385015-111385016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368558553	chr2:111385048-111385049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562011529	chr2:111385063-111385064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs56957318	chr2:111385081-111385082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564141772	chr2:111385135-111385136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533075184	chr2:111385148-111385149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs58524748	chr2:111385151-111385152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540185188	chr2:111385188-111385189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559893007	chr2:111385213-111385214	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs71276663	chr2:111385218-111385219	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs146634633	chr2:111385224-111385225	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs71263358	chr2:111385236-111385237	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs71263359	chr2:111385251-111385252	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs71263360	chr2:111385291-111385292	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs71276664	chr2:111385318-111385319	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549047238	chr2:111385357-111385358	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs568694343	chr2:111385396-111385397	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370126428	chr2:111385418-111385419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531432733	chr2:111385419-111385420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551186785	chr2:111385468-111385469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200953576	chr2:111385561-111385562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs571376066	chr2:111385574-111385575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs202232179	chr2:111385603-111385604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200285628	chr2:111385686-111385687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs140935409	chr2:111385754-111385755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs547722540	chr2:111385765-111385766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190097718	chr2:111385779-111385780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536943816	chr2:111385850-111385851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556932548	chr2:111385865-111385866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182411902	chr2:111385908-111385909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs563109870	chr2:111385936-111385937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539200836	chr2:111385964-111385965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	17483303	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Astrocytoma	22246337	CNVD
Myelofibrosis	22110671	CNVD
Ocular motor apraxia	21572526	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Idiopathic chronic pancreatitis	21549014	CNVD
Mental retardation	21549014	CNVD
Maculopathy	20981449	CNVD
Nephronophthisis	22470819	CNVD
Colorectal cancer	16912164	CNVD
Ischaemic stroke	16980335	CNVD
Acute myeloid leukemia	18000384	CNVD
Nephronophthisis	17901113	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	23813976	CNVD
Developmental delay	21147756	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Autism	20808228	CNVD

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111377600-111392000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr2:111384200-111410200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:111385200-111385400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:111385200-111385400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:111385200-111391800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:111385400-111392000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:111385400-111396000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:111386200-111392000	Weak transcription	Dnd41	blood
9	chr2:111386200-111395400	Weak transcription	HMEC	breast
10	chr2:111387000-111392000	Weak transcription	A549	lung
11	chr2:111388000-111392200	Weak transcription	Fetal Thymus	thymus
12	chr2:111389000-111394400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr2:111390200-111392000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:111390200-111392000	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr2:111390200-111392000	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr2:111390200-111392000	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr2:111390200-111392000	Weak transcription	Thymus	Thymus
18	chr2:111390200-111392000	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr2:111390400-111392000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:111390400-111392000	Weak transcription	Primary hematopoietic stem cells	blood
21	chr2:111390400-111392000	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr2:111390400-111392000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr2:111390400-111392000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr2:111390400-111392000	Weak transcription	Fetal Stomach	stomach
25	chr2:111390400-111392000	Weak transcription	GM12878-XiMat	blood
26	chr2:111390400-111392200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr2:111390400-111392200	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr2:111390400-111392200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr2:111390400-111392200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr2:111390400-111392200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr2:111390400-111392200	Weak transcription	HUVEC	blood vessel
32	chr2:111390600-111392200	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr2:111390600-111392200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr2:111390600-111392200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr2:111390600-111392200	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr2:111390600-111392200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr2:111390600-111392200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr2:111390600-111392200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr2:111390600-111392200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr2:111390600-111392200	Weak transcription	HepG2	liver
41	chr2:111390600-111392200	Weak transcription	NHDF-Ad	bronchial
42	chr2:111390600-111394400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr2:111390600-111394400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr2:111390600-111394400	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr2:111390600-111394400	Weak transcription	NH-A	brain
46	chr2:111390600-111394400	Weak transcription	Osteobl	bone
47	chr2:111390600-111396000	Weak transcription	Fetal Muscle Trunk	muscle
48	chr2:111390600-111396400	Weak transcription	Fetal Intestine Large	intestine
49	chr2:111390600-111397000	Weak transcription	Fetal Lung	lung
50	chr2:111390600-111397200	Weak transcription	NHEK	skin

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