Variant report

Variant	esv3418305
Chromosome Location	chr1:212549129-212552427
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr1:212550906-212551379	K562	blood:	n/a	n/a
2	CBX3	chr1:212551009-212551309	K562	blood:	n/a	n/a
3	CTCF	chr1:212552265-212552327	Kidney_OC	kidney:	n/a	n/a
4	CTCF	chr1:212549369-212549381	GM10248	blood:	n/a	n/a
5	CTCF	chr1:212550440-212550590	GM12873	blood:	n/a	n/a
6	CTCF	chr1:212549505-212549562	H1-hESC	embryonic stem cell:	n/a	n/a
7	EP300	chr1:212549860-212549880	K562	blood:	n/a	n/a
8	KAP1	chr1:212550974-212551371	K562	blood:	n/a	n/a
9	POLR2A	chr1:212550891-212550943	K562	blood:	n/a	n/a
10	RAD21	chr1:212549458-212549519	H1-hESC	embryonic stem cell:	n/a	n/a
11	SETDB1	chr1:212550963-212551311	K562	blood:	n/a	n/a
12	TRIM28	chr1:212550919-212551399	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:212549233..212551182-chr1:212586836..212589324,2	K562	blood:
2	chr1:212535909..212537642-chr1:212547330..212549342,2	K562	blood:
3	chr1:212548749..212550698-chr1:212631997..212633826,2	K562	blood:
4	chr1:212550848..212553114-chr1:212586010..212588532,2	MCF-7	breast:

No data

Variant related genes	Relation type
TMEM206	TF binding region
ENSG00000065600	chromatin interactions

Extended variants
information (count: 121 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:121 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529706509	chr1:212549129-212549130	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs547845325	chr1:212549142-212549143	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566771894	chr1:212549266-212549267	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs527628054	chr1:212549278-212549279	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs552500064	chr1:212549282-212549283	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs570690212	chr1:212549351-212549352	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs386639112	chr1:212549356-212549357	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs1774247	chr1:212549357-212549358	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs76432728	chr1:212549360-212549361	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
10	rs74138132	chr1:212549467-212549468	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs554626939	chr1:212549484-212549485	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs550935641	chr1:212549511-212549512	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs386639113	chr1:212549543-212549544	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs701906	chr1:212549544-212549545	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs558801155	chr1:212549604-212549605	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs369567324	chr1:212549605-212549606	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs367810687	chr1:212549618-212549619	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs544362829	chr1:212549627-212549628	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs562622576	chr1:212549656-212549657	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs375510216	chr1:212549754-212549755	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs191029489	chr1:212549776-212549777	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs527615419	chr1:212549782-212549783	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs529705676	chr1:212549794-212549795	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs541902631	chr1:212549796-212549797	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs559941907	chr1:212549804-212549805	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs527258513	chr1:212549823-212549824	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs547338688	chr1:212549828-212549829	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs552535174	chr1:212549833-212549834	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs570726594	chr1:212550001-212550002	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs531558762	chr1:212550064-212550065	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs143003179	chr1:212550090-212550091	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs113209117	chr1:212550125-212550126	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs372687162	chr1:212550153-212550154	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs138597726	chr1:212550180-212550181	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs141601957	chr1:212550221-212550222	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs146130768	chr1:212550223-212550224	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs182375451	chr1:212550246-212550247	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs76525225	chr1:212550248-212550249	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs566555119	chr1:212550270-212550271	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs533916119	chr1:212550288-212550289	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs558836395	chr1:212550295-212550296	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs188317339	chr1:212550309-212550310	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs567274180	chr1:212550339-212550340	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs577091336	chr1:212550500-212550501	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs544790898	chr1:212550511-212550512	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs12145484	chr1:212550531-212550532	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs574976591	chr1:212550606-212550607	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs541591290	chr1:212550698-212550699	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs192601333	chr1:212550699-212550700	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs549910531	chr1:212550703-212550704	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:212 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212489600-212554800	Weak transcription	Small Intestine	intestine
2	chr1:212502600-212563400	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr1:212502600-212564600	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr1:212523600-212550600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:212524400-212554600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr1:212526800-212549200	Weak transcription	Brain Germinal Matrix	brain
7	chr1:212526800-212550800	Weak transcription	HSMMtube	muscle
8	chr1:212526800-212582800	Weak transcription	Fetal Brain Male	brain
9	chr1:212528400-212583000	Weak transcription	Fetal Kidney	kidney
10	chr1:212529000-212550800	Weak transcription	NHLF	lung
11	chr1:212529400-212562400	Strong transcription	Dnd41	blood
12	chr1:212529800-212563200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr1:212530200-212552600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:212531600-212550000	Weak transcription	Pancreas	Pancrea
15	chr1:212531800-212550400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr1:212532200-212550400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr1:212532400-212560200	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr1:212533400-212557000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr1:212533800-212552800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr1:212534000-212558200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr1:212534000-212570200	Weak transcription	HSMM	muscle
22	chr1:212534400-212570600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr1:212534600-212560000	Weak transcription	Colon Smooth Muscle	Colon
24	chr1:212535000-212552800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr1:212535000-212561400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr1:212535200-212560200	Weak transcription	Hela-S3	cervix
27	chr1:212536200-212550400	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr1:212536200-212550600	Weak transcription	Brain Angular Gyrus	brain
29	chr1:212536200-212561600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr1:212536600-212549400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr1:212536600-212552800	Weak transcription	HMEC	breast
32	chr1:212537800-212551600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr1:212538000-212571000	Weak transcription	NH-A	brain
34	chr1:212538200-212550600	Weak transcription	Placenta	Placenta
35	chr1:212538200-212559600	Weak transcription	Right Atrium	heart
36	chr1:212538600-212550000	Weak transcription	Colonic Mucosa	Colon
37	chr1:212538600-212550400	Weak transcription	Ovary	ovary
38	chr1:212538800-212549400	Weak transcription	Gastric	stomach
39	chr1:212539400-212549400	Weak transcription	Aorta	Aorta
40	chr1:212539600-212550800	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr1:212540000-212549400	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr1:212540200-212550400	Weak transcription	Left Ventricle	heart
43	chr1:212540400-212549600	Weak transcription	Stomach Smooth Muscle	stomach
44	chr1:212540400-212549800	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr1:212540400-212550400	Weak transcription	Liver	Liver
46	chr1:212540400-212575400	Weak transcription	HUVEC	blood vessel
47	chr1:212540600-212550400	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr1:212540600-212562600	Weak transcription	Osteobl	bone
49	chr1:212540600-212564000	Weak transcription	Stomach Mucosa	stomach
50	chr1:212540800-212549800	Weak transcription	Duodenum Mucosa	Duodenum

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