Variant report

Variant	esv2761731
Chromosome Location	chr12:32177270-32206870
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:22)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:32192092..32194335-chr12:32198674..32200576,2	K562	blood:
2	chr12:32193881..32196557-chr12:32221966..32223576,2	MCF-7	breast:
3	chr12:32173443..32176016-chr12:32188514..32190413,2	K562	blood:
4	chr12:32185942..32189585-chr12:32195326..32198101,3	K562	blood:
5	chr12:32192092..32194335-chr12:32198674..32200576,2	K562	blood:
6	chr12:32112309..32113815-chr12:32205277..32207073,2	K562	blood:
7	chr12:32185942..32188780-chr12:32195326..32198101,2	K562	blood:
8	chr12:32185942..32189585-chr12:32195326..32198101,3	K562	blood:
9	chr12:31881091..31882971-chr12:32206555..32209474,2	K562	blood:
10	chr12:32167636..32169968-chr12:32184518..32186741,2	K562	blood:
11	chr12:32111704..32113744-chr12:32185448..32187261,2	K562	blood:
12	chr12:32175862..32178406-chr12:32179354..32181196,2	K562	blood:
13	chr12:31867484..31869953-chr12:32200460..32203745,3	K562	blood:
14	chr12:32175862..32178406-chr12:32179354..32181196,2	K562	blood:
15	chr12:32168121..32171020-chr12:32184096..32185622,2	K562	blood:
16	chr12:32185942..32188780-chr12:32195326..32198101,2	K562	blood:
17	chr12:32184129..32186800-chr12:32198545..32200849,2	K562	blood:
18	chr12:32199482..32202478-chr12:32260191..32262626,2	K562	blood:
19	chr12:32184129..32187066-chr12:32199349..32202275,2	K562	blood:
20	chr12:32184129..32187066-chr12:32199349..32202275,2	K562	blood:
21	chr12:32173013..32175537-chr12:32177292..32179791,2	K562	blood:
22	chr12:32184129..32186800-chr12:32198545..32200849,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BICD1-2	chr12:32204371-32204515	NONHSAT027603
2	lnc-BICD1-2	chr12:32204070-32204143	NONHSAT027603

No data

Variant related genes	Relation type
ENSG00000174718	chromatin interactions
ENSG00000151746	chromatin interactions
ENSG00000151743	chromatin interactions
ENSG00000257530	chromatin interactions

Extended variants
information (count: 1392 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:1392 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533048712	chr12:32177287-32177288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs541580680	chr12:32177305-32177306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560474081	chr12:32177311-32177312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs529077234	chr12:32177353-32177354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs187796065	chr12:32177358-32177359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs561500666	chr12:32177376-32177377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs11834721	chr12:32177392-32177393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs531840158	chr12:32177411-32177412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs116188279	chr12:32177469-32177470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs115191853	chr12:32177472-32177473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs529077885	chr12:32177486-32177487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs35118688	chr12:32177520-32177521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs184507397	chr12:32177551-32177552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs533462069	chr12:32177552-32177553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs7297111	chr12:32177575-32177576	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs75258477	chr12:32177598-32177599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs543070518	chr12:32177609-32177610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs200742759	chr12:32177610-32177611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs397850816	chr12:32177613-32177614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs61931418	chr12:32177620-32177621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs566995913	chr12:32177630-32177631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs368295033	chr12:32177632-32177633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs551529301	chr12:32177647-32177648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs139539220	chr12:32177656-32177657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs191328	chr12:32177692-32177693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs181304953	chr12:32177707-32177708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs191327	chr12:32177746-32177747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs149694706	chr12:32177766-32177767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs577549590	chr12:32177783-32177784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs540258849	chr12:32177821-32177822	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs145293426	chr12:32177830-32177831	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529241709	chr12:32177838-32177839	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542800548	chr12:32177871-32177872	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562704369	chr12:32177984-32177985	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs149196681	chr12:32177986-32177987	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs330687	chr12:32178041-32178042	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs551838270	chr12:32178054-32178055	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565265620	chr12:32178071-32178072	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs145144348	chr12:32178081-32178082	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547428114	chr12:32178097-32178098	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs141882514	chr12:32178153-32178154	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs567580282	chr12:32178158-32178159	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs113231099	chr12:32178196-32178197	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs371352983	chr12:32178197-32178198	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570246114	chr12:32178200-32178201	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374247677	chr12:32178203-32178204	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569824201	chr12:32178210-32178211	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs140486353	chr12:32178255-32178256	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs145662789	chr12:32178344-32178345	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs533757948	chr12:32178359-32178360	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
microdeletion syndrome	16199537	CNVD
Chordoma	18071362	CNVD
Cancer	20164920	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:415 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32154400-32177800	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr12:32154400-32178400	Weak transcription	Primary B cells from peripheral blood	blood
3	chr12:32154800-32178000	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr12:32154800-32179400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr12:32156200-32177800	Weak transcription	Primary T cells from cord blood	blood
6	chr12:32156200-32179000	Weak transcription	Primary B cells from cord blood	blood
7	chr12:32166000-32186400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr12:32166400-32184200	Weak transcription	Ovary	ovary
9	chr12:32168200-32177800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr12:32168600-32178000	Weak transcription	Thymus	Thymus
11	chr12:32171800-32181000	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr12:32173200-32178000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr12:32173600-32178000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr12:32174000-32178000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr12:32174000-32178400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr12:32174200-32177800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr12:32174200-32178000	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr12:32174400-32177800	Weak transcription	Dnd41	blood
19	chr12:32174400-32178000	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr12:32174600-32177600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr12:32174800-32177800	Weak transcription	K562	blood
22	chr12:32175000-32178000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr12:32176600-32177600	Enhancers	Placenta	Placenta
24	chr12:32176600-32179000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr12:32176800-32177600	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr12:32176800-32177800	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr12:32176800-32177800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr12:32177000-32177800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr12:32177200-32177600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr12:32177200-32178000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr12:32177400-32180000	Weak transcription	Gastric	stomach
32	chr12:32177600-32178200	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr12:32177600-32178600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr12:32177600-32181400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr12:32177800-32178000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:32177800-32178000	Enhancers	K562	blood
37	chr12:32177800-32178200	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr12:32177800-32178200	Enhancers	Fetal Lung	lung
39	chr12:32177800-32178200	Enhancers	A549	lung
40	chr12:32177800-32178400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr12:32177800-32178400	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr12:32177800-32178400	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr12:32177800-32178400	Enhancers	HepG2	liver
44	chr12:32177800-32178600	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr12:32177800-32179000	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr12:32177800-32179200	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr12:32177800-32179200	Enhancers	Dnd41	blood
48	chr12:32177800-32180200	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr12:32177800-32180200	Enhancers	Fetal Thymus	thymus
50	chr12:32177800-32181400	Enhancers	Primary T cells from cord blood	blood

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