Variant report

Variant	nsv1044939
Chromosome Location	chr12:67207260-67377982
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:75)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:75 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr12:67270133..67270911-chr12:67613617..67614322,2	MCF-7	breast:
2	chr12:67296511..67299023-chr12:67323435..67324974,2	MCF-7	breast:
3	chr12:67296029..67298947-chr12:67402634..67404774,2	K562	blood:
4	chr12:67253715..67256707-chr12:67270307..67272731,2	K562	blood:
5	chr12:67322533..67324494-chr12:67328156..67330477,2	K562	blood:
6	chr12:67331706..67334297-chr12:67337234..67339922,3	K562	blood:
7	chr12:67263616..67266720-chr12:67267325..67269969,3	MCF-7	breast:
8	chr12:67253380..67256928-chr12:67258329..67261239,3	K562	blood:
9	chr12:67263616..67266720-chr12:67267325..67269969,3	MCF-7	breast:
10	chr12:67346635..67348185-chr12:67352722..67355002,2	MCF-7	breast:
11	chr12:67314178..67315962-chr12:67342919..67344851,2	K562	blood:
12	chr12:67110006..67111455-chr12:67254721..67255586,6	MCF-7	breast:
13	chr12:67253715..67256707-chr12:67270307..67272731,2	K562	blood:
14	chr12:67331706..67333236-chr12:67337234..67339922,2	K562	blood:
15	chr12:67208944..67211936-chr12:67215045..67216994,2	K562	blood:
16	chr1:234360449..234360966-chr12:67305655..67306184,2	MCF-7	breast:
17	chr12:67297065..67298731-chr12:67613597..67614634,5	MCF-7	breast:
18	chr12:67352176..67353838-chr12:67356274..67358051,2	MCF-7	breast:
19	chr12:67331706..67333236-chr12:67337234..67339922,2	K562	blood:
20	chr12:67306567..67308676-chr12:67310361..67312988,2	K562	blood:
21	chr12:67308306..67310520-chr12:67311991..67314710,2	K562	blood:
22	chr12:67262259..67265055-chr12:67432650..67435604,2	MCF-7	breast:
23	chr12:67235225..67237663-chr12:67242475..67245104,2	MCF-7	breast:
24	chr12:67216740..67218475-chr12:67222220..67224061,2	MCF-7	breast:
25	chr12:67354144..67356767-chr12:67362428..67365138,2	MCF-7	breast:
26	chr12:67289452..67290999-chr12:67296445..67299201,2	MCF-7	breast:
27	chr12:67253647..67256314-chr12:67565336..67566847,2	K562	blood:
28	chr12:67354444..67357348-chr12:67368007..67370761,2	MCF-7	breast:
29	chr12:67308306..67310520-chr12:67311991..67314710,2	K562	blood:
30	chr12:67352783..67353464-chr12:67479586..67480363,2	MCF-7	breast:
31	chr12:67109764..67110463-chr12:67254735..67255402,2	MCF-7	breast:
32	chr12:67289479..67291060-chr12:67301635..67303898,2	K562	blood:
33	chr12:67326854..67328503-chr12:67662512..67664147,2	MCF-7	breast:
34	chr12:67331706..67334297-chr12:67337234..67339922,3	K562	blood:
35	chr12:67092019..67092945-chr12:67254522..67255578,9	MCF-7	breast:
36	chr12:67306214..67308962-chr12:67318247..67321230,2	MCF-7	breast:
37	chr12:67346635..67348185-chr12:67352722..67355002,2	MCF-7	breast:
38	chr12:67228648..67230716-chr12:67231553..67234052,2	K562	blood:
39	chr12:67235225..67237663-chr12:67242475..67245104,2	MCF-7	breast:
40	chr12:67376717..67378720-chr12:67409319..67411495,2	MCF-7	breast:
41	chr12:67306214..67308962-chr12:67318247..67321230,2	MCF-7	breast:
42	chr12:67292063..67294236-chr12:67462037..67463720,2	MCF-7	breast:
43	chr12:67300543..67302588-chr12:67306675..67309652,2	MCF-7	breast:
44	chr12:67228648..67230716-chr12:67231553..67234052,2	K562	blood:
45	chr12:67354144..67356767-chr12:67362428..67365138,2	MCF-7	breast:
46	chr12:67298346..67300741-chr12:67305071..67306583,2	MCF-7	breast:
47	chr12:67075881..67076642-chr12:67254630..67255196,2	MCF-7	breast:
48	chr12:67300543..67302588-chr12:67306675..67309652,2	MCF-7	breast:
49	chr12:67297515..67298406-chr12:67615824..67616730,3	MCF-7	breast:
50	chr12:67352323..67355212-chr12:67461055..67464112,3	MCF-7	breast:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CAND1-4	chr12:67350272-67350614	l_673_chr12:67349535-67350919_adrenal
2	lnc-CAND1-4	chr12:67350633-67350919	l_673_chr12:67349535-67350919_adrenal
3	lnc-GRIP1-1	chr12:67285593-67290880	XLOC_010109
4	lnc-CAND1-4	chr12:67349536-67349564	l_673_chr12:67349535-67350919_adrenal
5	lnc-GRIP1-5	chr12:67364375-67366403	NONHSAT029235
6	lnc-GRIP1-1	chr12:67285656-67285734	ENSG00000256248
7	lnc-GRIP1-1	chr12:67301276-67301326	XLOC_010109

No data

Variant related genes	Relation type
ENSG00000256248	chromatin interactions
ENSG00000163636	chromatin interactions
ENSG00000111530	chromatin interactions
DCBLD2	miRNA target sites

Extended variants
information (count: 6213 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:6213 , 50 per page) page: 1 2 3 4 5 6 7 ... 125

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552036084	chr12:67207264-67207265	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs573977283	chr12:67207277-67207278	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531496682	chr12:67207368-67207369	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs550018589	chr12:67207420-67207421	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs11829714	chr12:67207438-67207439	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs535777655	chr12:67207447-67207448	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs79112778	chr12:67207487-67207488	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs2870914	chr12:67207489-67207490	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs368053078	chr12:67207513-67207514	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576360470	chr12:67207538-67207539	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs149339251	chr12:67207598-67207599	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs7957244	chr12:67207630-67207631	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs569830476	chr12:67207689-67207690	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7960199	chr12:67207700-67207701	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs555566021	chr12:67207782-67207783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374929113	chr12:67207794-67207795	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs540123350	chr12:67207891-67207892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs12320075	chr12:67207906-67207907	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs368989951	chr12:67208001-67208002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553727367	chr12:67208257-67208258	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571901655	chr12:67208258-67208259	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560106799	chr12:67208273-67208274	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs148584319	chr12:67208325-67208326	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531456050	chr12:67208334-67208335	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543621140	chr12:67208342-67208343	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369516447	chr12:67208369-67208370	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573395747	chr12:67208370-67208371	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs79461500	chr12:67208384-67208385	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561900003	chr12:67208405-67208406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs142994932	chr12:67208417-67208418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529057627	chr12:67208438-67208439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547326587	chr12:67208451-67208452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369681492	chr12:67208456-67208457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182237691	chr12:67208508-67208509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533139263	chr12:67208546-67208547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs79161171	chr12:67208553-67208554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569789623	chr12:67208572-67208573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs537180113	chr12:67208589-67208590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112193360	chr12:67208615-67208616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373045781	chr12:67208616-67208617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200371870	chr12:67208618-67208619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs375875455	chr12:67208653-67208654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554241485	chr12:67208731-67208732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544469963	chr12:67208737-67208738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555529122	chr12:67208773-67208774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12314839	chr12:67208774-67208775	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs535225100	chr12:67208775-67208776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186251131	chr12:67208802-67208803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190665365	chr12:67208807-67208808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545457472	chr12:67208808-67208809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Wilms tumour	21544195	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
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Fibroblasts	20926602	CNVD
Metanephric adenoma	20802469	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Mental retardation	17220210	CNVD
Osteopoikilosis	17220210	CNVD
short stature	17220210	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Ovarian neoplasms	16753589	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16620391	CNVD
Neuroticism	17667963	CNVD
Breast cancer	21364760	CNVD
Urothelial cell carcinoma	18451213	CNVD
Breast cancer	22048815	CNVD
Congenital anomalies of the kidney and urinary tract	21113617	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	CNVD
Myxofibrosarcoma	16751306	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Lung cancer	17925434	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Disease	21505450	CNVD
craniofacial dysmorphism	21918468	CNVD
Glioblastoma multiforme	21569311	CNVD
Osteosarcoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Glioblastoma multiforme	19115005	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:816 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67206400-67207800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:67206600-67207800	Enhancers	HMEC	breast
3	chr12:67206800-67207600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr12:67206800-67207600	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr12:67206800-67207600	Enhancers	Fetal Brain Male	brain
6	chr12:67206800-67207800	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr12:67206800-67207800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr12:67207000-67207400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr12:67207000-67207400	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr12:67207000-67207600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr12:67207000-67207600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr12:67207000-67207600	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr12:67207000-67207600	Enhancers	Primary T cells fromperipheralblood	blood
14	chr12:67207000-67207800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr12:67207000-67207800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr12:67207000-67207800	Enhancers	NHEK	skin
17	chr12:67207000-67208000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr12:67207200-67207400	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr12:67207200-67207600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr12:67207200-67207600	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr12:67207200-67207800	Enhancers	Primary T cells from cord blood	blood
22	chr12:67207400-67207800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:67207600-67207800	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr12:67207600-67210800	Weak transcription	Fetal Brain Male	brain
25	chr12:67208200-67208400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr12:67209800-67210200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr12:67210800-67211200	Enhancers	Fetal Brain Male	brain
28	chr12:67213800-67214000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr12:67214000-67217200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr12:67216200-67216400	Enhancers	Placenta Amnion	Placenta Amnion
31	chr12:67216200-67218600	Enhancers	HMEC	breast
32	chr12:67216400-67218400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr12:67216600-67217800	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr12:67216600-67217800	Enhancers	NHEK	skin
35	chr12:67216600-67218400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr12:67216600-67218600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr12:67216800-67218600	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr12:67216800-67219600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr12:67217200-67218200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr12:67217200-67219400	Enhancers	Colon Smooth Muscle	Colon
41	chr12:67217400-67218000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr12:67217400-67218200	Enhancers	Fetal Heart	heart
43	chr12:67217600-67218000	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr12:67217600-67218400	Enhancers	Stomach Smooth Muscle	stomach
45	chr12:67217800-67218200	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr12:67217800-67218200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr12:67217800-67218200	Enhancers	Rectal Smooth Muscle	rectum
48	chr12:67217800-67218400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr12:67217800-67218400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr12:67217800-67218400	Enhancers	Placenta	Placenta

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