Variant report

Variant	esv3343385
Chromosome Location	chr2:99187070-99189868
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:99189020-99189170	HPAF	blood vessel:	n/a	n/a
2	POLR2A	chr2:99188749-99188814	K562	blood:	n/a	n/a
3	POLR2A	chr2:99187821-99188530	GM12878	blood:	n/a	n/a
4	POLR2A	chr2:99187828-99188716	GM12878	blood:	n/a	n/a
5	POLR2A	chr2:99187152-99187178	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr2:99187052-99187322	H1-neurons	neurons:	n/a	n/a
7	POLR2A	chr2:99187619-99187646	GM12878	blood:	n/a	n/a
8	POLR2A	chr2:99186641-99187313	GM12878	blood:	n/a	n/a
9	POLR2A	chr2:99187042-99187110	GM12878	blood:	n/a	n/a
10	POLR2A	chr2:99187182-99187574	K562	blood:	n/a	n/a
11	POLR2A	chr2:99187422-99187603	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr2:99187775-99187956	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr2:99187759-99188145	GM12878	blood:	n/a	n/a
14	POLR2A	chr2:99189318-99189444	K562	blood:	n/a	n/a
15	POLR2A	chr2:99189299-99189314	K562	blood:	n/a	n/a
16	POLR2A	chr2:99188681-99188773	GM12878	blood:	n/a	n/a
17	POLR2A	chr2:99187401-99187625	GM12878	blood:	n/a	n/a
18	POLR2A	chr2:99188035-99188188	K562	blood:	n/a	n/a
19	POLR2A	chr2:99187867-99187885	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr2:99188411-99188572	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:99185982..99187512-chr2:99223974..99225746,2	MCF-7	breast:
2	chr2:99186248..99187775-chr2:99201467..99203434,2	MCF-7	breast:

No data

Variant related genes	Relation type
INPP4A	TF binding region
ENSG00000183513	chromatin interactions
ENSG00000115446	chromatin interactions

Extended variants
information (count: 114 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:114 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149391871	chr2:99187073-99187074	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs373591478	chr2:99187094-99187095	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs77931835	chr2:99187171-99187172	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs183525891	chr2:99187267-99187268	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs530370930	chr2:99187336-99187337	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs540921223	chr2:99187361-99187362	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs144792675	chr2:99187375-99187376	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs574960338	chr2:99187393-99187394	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs116172224	chr2:99187398-99187399	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs148629648	chr2:99187429-99187430	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs3769709	chr2:99187433-99187434	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs142738488	chr2:99187436-99187437	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs188527737	chr2:99187460-99187461	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs536116714	chr2:99187484-99187485	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs552865741	chr2:99187488-99187489	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs147386757	chr2:99187513-99187514	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs527325622	chr2:99187551-99187552	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs139443643	chr2:99187595-99187596	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs386648458	chr2:99187626-99187627	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs150997506	chr2:99187628-99187629	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs3769708	chr2:99187650-99187651	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs574381335	chr2:99187752-99187753	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs192729278	chr2:99187780-99187781	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs114217948	chr2:99187825-99187826	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs11687042	chr2:99187871-99187872	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs532739298	chr2:99187876-99187877	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs77047806	chr2:99187878-99187879	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs13403971	chr2:99187898-99187899	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs562969885	chr2:99187903-99187904	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs531662221	chr2:99187911-99187912	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs113315465	chr2:99187912-99187913	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs116987505	chr2:99187914-99187915	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs527708589	chr2:99187929-99187930	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs546466107	chr2:99187969-99187970	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs35520525	chr2:99187973-99187974	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs149710111	chr2:99187978-99187979	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs145576321	chr2:99188027-99188028	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs538436980	chr2:99188065-99188066	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs184701530	chr2:99188111-99188112	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs569033827	chr2:99188219-99188220	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs530433195	chr2:99188282-99188283	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs141332225	chr2:99188283-99188284	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs537501713	chr2:99188319-99188320	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs187013579	chr2:99188329-99188330	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs574322457	chr2:99188405-99188406	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs533807794	chr2:99188423-99188424	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs554498023	chr2:99188447-99188448	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs577660658	chr2:99188471-99188472	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs140356360	chr2:99188521-99188522	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs145683107	chr2:99188547-99188548	Weak transcription Strong transcription Enhancers Genic 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
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	17483303	CNVD
Medulloblastoma	20607354	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
Breast cancer	21509527	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Glioblastoma multiforme	21138945	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:168 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99147200-99200200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:99148400-99211200	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr2:99149000-99209800	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr2:99149000-99210800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr2:99149200-99210800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr2:99156400-99197000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:99158800-99190600	Strong transcription	Cortex derived primary cultured neurospheres	brain
8	chr2:99159800-99201600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr2:99163000-99215000	Weak transcription	HMEC	breast
10	chr2:99163800-99194000	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr2:99164400-99210800	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr2:99167600-99193400	Weak transcription	Fetal Heart	heart
13	chr2:99168000-99205200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr2:99168400-99210400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr2:99168600-99197600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr2:99169400-99222600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr2:99173200-99205000	Strong transcription	Primary T cells from cord blood	blood
18	chr2:99173400-99204800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr2:99174000-99204000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
20	chr2:99174600-99207800	Weak transcription	HUVEC	blood vessel
21	chr2:99176000-99205400	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr2:99176200-99203400	Strong transcription	Primary T helper cells PMA-I stimulated	--
23	chr2:99176200-99210600	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr2:99176400-99205200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr2:99177200-99190800	Strong transcription	Brain Anterior Caudate	brain
26	chr2:99177400-99201600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr2:99177400-99210800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr2:99177400-99213000	Weak transcription	NHDF-Ad	bronchial
29	chr2:99177400-99216200	Weak transcription	NH-A	brain
30	chr2:99177400-99221000	Weak transcription	Psoas Muscle	Psoas
31	chr2:99178200-99201400	Strong transcription	Fetal Stomach	stomach
32	chr2:99178600-99189800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr2:99178600-99190600	Strong transcription	Primary T killer memory cells from peripheral blood	blood
34	chr2:99178800-99193800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr2:99178800-99201200	Strong transcription	Spleen	Spleen
36	chr2:99179200-99196600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr2:99179400-99190000	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr2:99179400-99190400	Strong transcription	H1 Cell Line	embryonic stem cell
39	chr2:99179400-99190600	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr2:99179400-99198600	Strong transcription	Fetal Intestine Small	intestine
41	chr2:99179400-99204200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr2:99179600-99190200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr2:99179600-99195400	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr2:99179600-99195400	Strong transcription	Placenta	Placenta
45	chr2:99179600-99196800	Strong transcription	Liver	Liver
46	chr2:99179800-99187400	Strong transcription	Brain Inferior Temporal Lobe	brain
47	chr2:99179800-99190000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr2:99179800-99190200	Strong transcription	Colonic Mucosa	Colon
49	chr2:99179800-99190400	Strong transcription	Gastric	stomach
50	chr2:99179800-99190800	Strong transcription	Primary B cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links