Variant report

Variant	nsv979137
Chromosome Location	chr2:153246337-153247112
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:153246073-153246358	GM12892	blood:	n/a	n/a
2	POLR2A	chr2:153246138-153246356	A549	lung:	n/a	n/a
3	POLR2A	chr2:153246513-153246848	K562	blood:	n/a	n/a
4	POLR2A	chr2:153246589-153246737	MCF-7	breast:	n/a	n/a
5	POLR2A	chr2:153246037-153246411	MCF-7	breast:	n/a	n/a
6	POLR2A	chr2:153246019-153246439	MCF-7	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:153246299-153246349	MCF-7	breast:	n/a
2	chr2:153246299-153246349	GM12878	blood:	n/a
3	chr2:153246299-153246349	IMR90	lung:	fetal
4	chr2:153246299-153246349	BE2_C	brain:	n/a
5	chr2:153246299-153246349	RPTEC	kidney:	n/a
6	chr2:153246299-153246349	HCM	heart:	n/a
7	chr2:153246299-153246349	HL-60	blood:	n/a
8	chr2:153246299-153246349	HEK293	kidney:	embryo
9	chr2:153246299-153246349	ovcar-3	ovarian:	n/a
10	chr2:153246299-153246349	AoSMC	blood vessel:	n/a
11	chr2:153246299-153246349	LNCaP	prostate:	n/a
12	chr2:153246299-153246349	AG09309	skin:	n/a
13	chr2:153246299-153246349	HIPEpiC	eye:	n/a
14	chr2:153246299-153246349	AG10803	skin:	n/a
15	chr2:153246299-153246349	NHBE	bronchial:	n/a
16	chr2:153246299-153246349	NHDF-neo	bronchial:	n/a
17	chr2:153246299-153246349	HCF	heart:	n/a
18	chr2:153246299-153246349	SK-N-MC	brain:	n/a
19	chr2:153246299-153246349	SK-N-SH_RA	brain:	n/a
20	chr2:153246299-153246349	HPAEpiC	pulmonary alveolar:	n/a
21	chr2:153246299-153246349	CMK	blood:	n/a
22	chr2:153246299-153246349	SKMC	muscle:	n/a
23	chr2:153246299-153246349	GM12892	blood:	n/a
24	chr2:153246299-153246349	Jurkat	blood:	n/a
25	chr2:153246299-153246349	ECC-1	luminal epithelium:	n/a
26	chr2:153246299-153246349	HCPEpiC	choroid plexus:	n/a
27	chr2:153246299-153246349	AG04449	skin:	fetal
28	chr2:153246299-153246349	A549	lung:	n/a
29	chr2:153246299-153246349	PFSK-1	brain:	n/a
30	chr2:153246299-153246349	GM06990	blood:	n/a
31	chr2:153246299-153246349	HepG2	liver:	n/a
32	chr2:153246299-153246349	HRE	kidney:	n/a
33	chr2:153246299-153246349	NH-A	brain:	n/a
34	chr2:153246299-153246349	AG09319	gingival:	n/a
35	chr2:153246299-153246349	SK-N-SH	brain:	n/a
36	chr2:153246299-153246349	HRCEpiC	kidney:	n/a
37	chr2:153246299-153246349	HCT-116	colon:	n/a
38	chr2:153246299-153246349	K562	blood:	n/a
39	chr2:153246299-153246349	BJ	skin:	n/a
40	chr2:153246299-153246349	T-47D	breast:	n/a
41	chr2:153246299-153246349	HEEpiC	esophagus:	n/a
42	chr2:153246299-153246349	Hela-S3	cervix:	n/a
43	chr2:153246299-153246349	AG04450	lung:	fetal
44	chr2:153246299-153246349	NT2-D1	testis:	n/a
45	chr2:153246299-153246349	SAEC	small airway:	n/a
46	chr2:153246299-153246349	GM12891	blood:	n/a
47	chr2:153246299-153246349	ProgFib	skin:	n/a
48	chr2:153246299-153246349	MCF10A-Er-Src	breast:	n/a
49	chr2:153246299-153246349	PANC-1	pancreas:	n/a
50	chr2:153246299-153246349	HUVEC	blood vessel:	n/a

No data

Variant related genes	Relation type
ENSG00000213197	TF binding region
ENSG00000213197	CpG island

Extended variants
information (count: 38 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111359143	chr2:153246373-153246374	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs555799126	chr2:153246386-153246387	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs575771604	chr2:153246388-153246389	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs139777309	chr2:153246399-153246400	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs145226853	chr2:153246431-153246432	Strong transcription Weak transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs572680337	chr2:153246439-153246440	Strong transcription Weak transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs376675958	chr2:153246440-153246441	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs191469342	chr2:153246462-153246463	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs578185238	chr2:153246481-153246482	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs544042231	chr2:153246532-153246533	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs563764397	chr2:153246591-153246592	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs529415415	chr2:153246601-153246602	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs556001988	chr2:153246620-153246621	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs369871596	chr2:153246635-153246636	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs574212595	chr2:153246639-153246640	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs559523408	chr2:153246648-153246649	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs35174814	chr2:153246675-153246676	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs374081753	chr2:153246681-153246682	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs547328441	chr2:153246708-153246709	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs570423435	chr2:153246709-153246710	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs539238888	chr2:153246710-153246711	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs112146210	chr2:153246716-153246717	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs549610175	chr2:153246727-153246728	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs544905894	chr2:153246728-153246729	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs569388795	chr2:153246790-153246791	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs535228757	chr2:153246800-153246801	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs114563578	chr2:153246807-153246808	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs571915760	chr2:153246808-153246809	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs188860865	chr2:153246825-153246826	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs558452918	chr2:153246834-153246835	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs578260509	chr2:153246857-153246858	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs147627488	chr2:153246868-153246869	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs112987025	chr2:153246981-153246982	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs111529407	chr2:153246995-153246996	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs542720445	chr2:153247028-153247029	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs3890370	chr2:153247069-153247070	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs528435091	chr2:153247074-153247075	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs551401601	chr2:153247076-153247077	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	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
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	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
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	19156171	CNVD
Acute myeloid leukemia	18000384	CNVD
Autism	20808228	CNVD
early-passage human iPS cells	21368824	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Gastric cancer	17229543	CNVD

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153207600-153246400	Weak transcription	Fetal Intestine Small	intestine
2	chr2:153226200-153249400	Weak transcription	Right Ventricle	heart
3	chr2:153226200-153251800	Weak transcription	HSMMtube	muscle
4	chr2:153229200-153252400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr2:153233400-153249000	Weak transcription	Gastric	stomach
6	chr2:153233800-153255400	Weak transcription	NHEK	skin
7	chr2:153237400-153249000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:153237400-153255400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:153237400-153255400	Weak transcription	HMEC	breast
10	chr2:153238400-153246400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr2:153238600-153246600	Weak transcription	Ovary	ovary
12	chr2:153238600-153258600	Weak transcription	Left Ventricle	heart
13	chr2:153241200-153251600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr2:153241200-153255400	Weak transcription	Pancreas	Pancrea
15	chr2:153241600-153249000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr2:153242600-153247200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr2:153242800-153247800	Weak transcription	Psoas Muscle	Psoas
18	chr2:153242800-153248000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr2:153242800-153248000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr2:153242800-153249200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:153242800-153252600	Weak transcription	A549	lung
22	chr2:153243000-153247200	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr2:153243000-153251600	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr2:153243200-153249200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr2:153243400-153247400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr2:153243400-153252600	Weak transcription	Fetal Brain Female	brain
27	chr2:153243600-153247000	Weak transcription	Brain Anterior Caudate	brain
28	chr2:153243800-153246800	Weak transcription	Stomach Mucosa	stomach
29	chr2:153243800-153252000	Weak transcription	Fetal Lung	lung
30	chr2:153244400-153247200	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr2:153244600-153246800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:153245000-153247000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr2:153245000-153249200	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr2:153245000-153251800	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr2:153245400-153246600	Weak transcription	Brain Substantia Nigra	brain
36	chr2:153245600-153246400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr2:153245600-153247000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr2:153245800-153247000	Weak transcription	Brain Hippocampus Middle	brain
39	chr2:153245800-153247200	Weak transcription	Brain Cingulate Gyrus	brain
40	chr2:153245800-153247400	Weak transcription	Brain Angular Gyrus	brain
41	chr2:153245800-153250800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr2:153245800-153250800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr2:153246000-153246400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr2:153246000-153247000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr2:153246000-153247200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr2:153246000-153247400	Strong transcription	Fetal Stomach	stomach
47	chr2:153246000-153248200	Strong transcription	HepG2	liver
48	chr2:153246000-153251400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr2:153246200-153247000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr2:153246200-153247400	Enhancers	Placenta	Placenta

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