Variant report

Variant	esv3436133
Chromosome Location	chr2:152686106-152690504
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:61)
Chromatin interactive
region (count:8)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:152687480-152687927	HepG2	liver:	n/a	n/a
2	BATF	chr2:152690499-152690789	GM12878	blood:	n/a	n/a
3	CEBPB	chr2:152687596-152687748	HepG2	liver:	n/a	n/a
4	CTCF	chr2:152686692-152686699	K562	blood:	n/a	n/a
5	CTCF	chr2:152687525-152687573	Kidney_OC	kidney:	n/a	n/a
6	CUX1	chr2:152689915-152689949	K562	blood:	n/a	n/a
7	EP300	chr2:152687604-152687615	HepG2	liver:	n/a	n/a
8	JUND	chr2:152687639-152687738	HepG2	liver:	n/a	n/a
9	KAP1	chr2:152686161-152686614	K562	blood:	n/a	n/a
10	MAFF	chr2:152687766-152687878	HepG2	liver:	n/a	n/a
11	MAFK	chr2:152687646-152687927	HepG2	liver:	n/a	chr2:152687775-152687786 chr2:152687775-152687786
12	MAFK	chr2:152689812-152689813	K562	blood:	n/a	n/a
13	MAFK	chr2:152687626-152687851	HepG2	liver:	n/a	chr2:152687775-152687786 chr2:152687775-152687786
14	MAX	chr2:152687617-152687664	HepG2	liver:	n/a	n/a
15	MAZ	chr2:152687539-152687668	HepG2	liver:	n/a	n/a
16	MEF2A	chr2:152690487-152690935	GM12878	blood:	n/a	n/a
17	POLR2A	chr2:152687796-152687923	MCF10A-Er-Src	breast:	n/a	n/a
18	RCOR1	chr2:152687780-152687846	HepG2	liver:	n/a	n/a
19	RFX5	chr2:152689179-152689243	K562	blood:	n/a	n/a
20	RUNX3	chr2:152690466-152690896	GM12878	blood:	n/a	n/a
21	STAT3	chr2:152689807-152689884	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	chr2:152688701-152688751	NT2-D1	testis:	n/a
2	chr2:152688701-152688751	LNCaP	prostate:	n/a
3	chr2:152688701-152688751	CMK	blood:	n/a
4	chr2:152688701-152688751	HUVEC	blood vessel:	n/a
5	chr2:152688701-152688751	PFSK-1	brain:	n/a
6	chr2:152688701-152688751	HCT-116	colon:	n/a
7	chr2:152688701-152688751	SK-N-SH	brain:	n/a
8	chr2:152688701-152688751	IMR90	lung:	fetal
9	chr2:152688701-152688751	SKMC	muscle:	n/a
10	chr2:152688701-152688751	HNPCEpiC	eye:	n/a
11	chr2:152688701-152688751	AG04450	lung:	fetal
12	chr2:152688701-152688751	HMEC	breast:	n/a
13	chr2:152688701-152688751	HCF	heart:	n/a
14	chr2:152688701-152688751	H1-hESC	embryonic stem cell:	embryo
15	chr2:152688701-152688751	NB4	blood:	n/a
16	chr2:152688701-152688751	PANC-1	pancreas:	n/a
17	chr2:152688701-152688751	GM06990	blood:	n/a
18	chr2:152688701-152688751	NHBE	bronchial:	n/a
19	chr2:152688701-152688751	SK-N-MC	brain:	n/a
20	chr2:152688701-152688751	A549	lung:	n/a
21	chr2:152688701-152688751	GM12892	blood:	n/a
22	chr2:152688701-152688751	ovcar-3	ovarian:	n/a
23	chr2:152688701-152688751	AG04449	skin:	fetal
24	chr2:152688701-152688751	GM19239	blood:	n/a
25	chr2:152688701-152688751	NH-A	brain:	n/a
26	chr2:152688701-152688751	HRCEpiC	kidney:	n/a
27	chr2:152688701-152688751	HRE	kidney:	n/a
28	chr2:152688701-152688751	HAEpiC	amniotic membrane:	n/a
29	chr2:152688701-152688751	GM12891	blood:	n/a
30	chr2:152688701-152688751	BE2_C	brain:	n/a
31	chr2:152688701-152688751	AoSMC	blood vessel:	n/a
32	chr2:152688701-152688751	AG09309	skin:	n/a
33	chr2:152688701-152688751	HEEpiC	esophagus:	n/a
34	chr2:152688701-152688751	Jurkat	blood:	n/a
35	chr2:152688701-152688751	Caco-2	colon:	n/a
36	chr2:152688701-152688751	RPTEC	kidney:	n/a
37	chr2:152688701-152688751	HCM	heart:	n/a
38	chr2:152688701-152688751	HPAEpiC	pulmonary alveolar:	n/a
39	chr2:152688701-152688751	T-47D	breast:	n/a
40	chr2:152688701-152688751	HepG2	liver:	n/a
41	chr2:152688701-152688751	MCF-7	breast:	n/a
42	chr2:152688701-152688751	AG09319	gingival:	n/a
43	chr2:152688701-152688751	HL-60	blood:	n/a
44	chr2:152688701-152688751	ECC-1	luminal epithelium:	n/a
45	chr2:152688701-152688751	PrEC	prostate:	n/a
46	chr2:152688701-152688751	U87	brain:	n/a
47	chr2:152688701-152688751	HIPEpiC	eye:	n/a
48	chr2:152688701-152688751	ProgFib	skin:	n/a
49	chr2:152688701-152688751	NHDF-neo	bronchial:	n/a
50	chr2:152688701-152688751	HRPEpiC	eye:	n/a

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:152686002..152688866-chr2:152703453..152705205,2	MCF-7	breast:
2	chr2:152688578..152690368-chr2:152697278..152699911,2	K562	blood:
3	chr2:152684763..152686807-chr2:153031833..153033553,2	MCF-7	breast:
4	chr2:152686310..152687943-chr2:152704557..152706509,2	MCF-7	breast:
5	chr2:152657917..152660487-chr2:152685208..152686908,2	K562	blood:
6	chr2:152689042..152691234-chr2:152692225..152695696,3	K562	blood:
7	chr2:152684180..152686852-chr2:152690162..152693530,4	MCF-7	breast:
8	chr2:152685053..152687897-chr2:152732170..152734670,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARL5A-2	chr2:152690495-152691098	NONHSAT074969

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	CACNB4	hsa-miR-26b-5p	chr2:152689828-152689851

Variant related genes	Relation type
ARL5A	TF binding region
ARL5A	CpG island
ENSG00000115145	chromatin interactions
ENSG00000162980	chromatin interactions

Extended variants
information (count: 142 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:142 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377597206	chr2:152686112-152686113	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs369969647	chr2:152686123-152686124	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs568435653	chr2:152686138-152686139	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs571169905	chr2:152686157-152686158	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs190890432	chr2:152686160-152686161	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs183314302	chr2:152686174-152686175	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs137958347	chr2:152686277-152686278	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs538458619	chr2:152686286-152686287	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs538551693	chr2:152686298-152686299	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs72995402	chr2:152686306-152686307	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs575466489	chr2:152686332-152686333	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs111454910	chr2:152686352-152686353	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs112283942	chr2:152686404-152686405	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs574133293	chr2:152686409-152686410	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs539835723	chr2:152686412-152686413	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs559859704	chr2:152686499-152686500	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs537437425	chr2:152686521-152686522	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs189248616	chr2:152686603-152686604	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs546089079	chr2:152686605-152686606	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs563062174	chr2:152686607-152686608	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs140330334	chr2:152686641-152686642	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs78292479	chr2:152686663-152686664	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs557674619	chr2:152686693-152686694	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs114165741	chr2:152686697-152686698	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs567820779	chr2:152686710-152686711	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs536271310	chr2:152686735-152686736	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs527727321	chr2:152686754-152686755	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs192283498	chr2:152686759-152686760	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs78201387	chr2:152686761-152686762	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs539889597	chr2:152686778-152686779	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs552109956	chr2:152686783-152686784	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs372521994	chr2:152686795-152686796	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs569064259	chr2:152686851-152686852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs116823687	chr2:152686864-152686865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs554486554	chr2:152686868-152686869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs184512793	chr2:152686885-152686886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs533544219	chr2:152686955-152686956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs553309373	chr2:152687031-152687032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs576879354	chr2:152687044-152687045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs545855109	chr2:152687058-152687059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs562420393	chr2:152687071-152687072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs143292138	chr2:152687083-152687084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs542432134	chr2:152687172-152687173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs576102653	chr2:152687185-152687186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs144822233	chr2:152687234-152687235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs7600765	chr2:152687238-152687239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs2345154	chr2:152687242-152687243	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs114602566	chr2:152687246-152687247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs538381686	chr2:152687249-152687250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs533154639	chr2:152687257-152687258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152685400-152686400	Weak transcription	Spleen	Spleen
2	chr2:152685400-152688200	Enhancers	Fetal Intestine Large	intestine
3	chr2:152685400-152697200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:152685600-152686600	Weak transcription	Small Intestine	intestine
5	chr2:152685600-152687200	Weak transcription	Aorta	Aorta
6	chr2:152685600-152687600	Enhancers	Fetal Intestine Small	intestine
7	chr2:152685600-152688600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:152685600-152694600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:152685600-152695200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr2:152685600-152697600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:152685600-152699400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr2:152685600-152709600	Weak transcription	Fetal Brain Female	brain
13	chr2:152685800-152686600	Enhancers	Adipose Nuclei	Adipose
14	chr2:152685800-152686600	Enhancers	Duodenum Mucosa	Duodenum
15	chr2:152685800-152686600	Enhancers	K562	blood
16	chr2:152685800-152689800	Weak transcription	GM12878-XiMat	blood
17	chr2:152685800-152690000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr2:152685800-152690400	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr2:152685800-152690400	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr2:152685800-152690400	Weak transcription	Primary B cells from cord blood	blood
21	chr2:152685800-152690400	Weak transcription	Primary hematopoietic stem cells	blood
22	chr2:152685800-152690400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr2:152685800-152690400	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr2:152685800-152692000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr2:152685800-152695200	Weak transcription	Brain Anterior Caudate	brain
26	chr2:152685800-152695600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr2:152685800-152697400	Weak transcription	Fetal Muscle Leg	muscle
28	chr2:152685800-152699200	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr2:152685800-152699400	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr2:152685800-152702200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr2:152686000-152688000	Enhancers	HepG2	liver
32	chr2:152686400-152686600	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr2:152686400-152686600	Enhancers	Spleen	Spleen
34	chr2:152686600-152686800	Enhancers	Small Intestine	intestine
35	chr2:152686600-152687200	Weak transcription	Duodenum Mucosa	Duodenum
36	chr2:152687200-152688000	Enhancers	Duodenum Mucosa	Duodenum
37	chr2:152687600-152687800	Enhancers	Aorta	Aorta
38	chr2:152687600-152696600	Weak transcription	Fetal Intestine Small	intestine
39	chr2:152688000-152697600	Weak transcription	HepG2	liver
40	chr2:152688200-152691400	Weak transcription	Fetal Intestine Large	intestine
41	chr2:152689800-152692200	Enhancers	GM12878-XiMat	blood
42	chr2:152690000-152692400	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr2:152690400-152690800	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr2:152690400-152690800	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr2:152690400-152691000	Enhancers	Primary B cells from cord blood	blood
46	chr2:152690400-152691000	Enhancers	Primary hematopoietic stem cells	blood
47	chr2:152690400-152691000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr2:152690400-152691400	Enhancers	Monocytes-CD14+_RO01746	blood

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