Variant report

Variant	nsv1041160
Chromosome Location	chr12:67357870-67439696
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:35)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:35 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:67432681..67436154-chr12:67437903..67440752,3	K562	blood:
2	chr12:67430001..67432291-chr12:67437281..67438811,2	K562	blood:
3	chr12:67428119..67432291-chr12:67435591..67438811,4	K562	blood:
4	chr12:67296029..67298947-chr12:67402634..67404774,2	K562	blood:
5	chr12:67416068..67418354-chr12:67426398..67428133,2	MCF-7	breast:
6	chr12:67390978..67393668-chr12:67401763..67404161,2	MCF-7	breast:
7	chr12:67419005..67419983-chr12:67613517..67614351,5	MCF-7	breast:
8	chr12:67426397..67429234-chr12:67432372..67434207,2	MCF-7	breast:
9	chr12:67418734..67420386-chr12:67615976..67617354,5	MCF-7	breast:
10	chr12:67428119..67432291-chr12:67435591..67438811,4	K562	blood:
11	chr12:67419197..67419716-chr12:67554308..67555068,2	MCF-7	breast:
12	chr12:67435225..67438016-chr12:67462068..67464213,3	MCF-7	breast:
13	chr12:67416068..67418354-chr12:67426398..67428133,2	MCF-7	breast:
14	chr12:67418711..67421143-chr12:67461098..67463852,2	MCF-7	breast:
15	chr12:67376717..67378720-chr12:67409319..67411495,2	MCF-7	breast:
16	chr12:67427801..67429631-chr12:67463165..67465076,2	MCF-7	breast:
17	chr12:67390978..67393668-chr12:67401763..67404161,2	MCF-7	breast:
18	chr12:67405670..67407679-chr12:67409417..67411266,2	K562	blood:
19	chr12:67432681..67436154-chr12:67437903..67440752,3	K562	blood:
20	chr12:67436694..67438476-chr12:67441715..67443438,2	MCF-7	breast:
21	chr12:67376717..67378720-chr12:67409319..67411495,2	MCF-7	breast:
22	chr12:67408467..67411253-chr12:67422516..67424188,2	K562	blood:
23	chr12:67418551..67421085-chr12:67462574..67464115,2	MCF-7	breast:
24	chr12:67408467..67411253-chr12:67422516..67424188,2	K562	blood:
25	chr12:67352176..67353838-chr12:67356274..67358051,2	MCF-7	breast:
26	chr12:67431904..67434505-chr12:67437825..67439671,2	MCF-7	breast:
27	chr12:67405670..67407679-chr12:67409417..67411266,2	K562	blood:
28	chr12:67431904..67434505-chr12:67437825..67439671,2	MCF-7	breast:
29	chr12:67426397..67429234-chr12:67432372..67434207,2	MCF-7	breast:
30	chr12:67405871..67408664-chr12:67412311..67414518,2	MCF-7	breast:
31	chr12:67262259..67265055-chr12:67432650..67435604,2	MCF-7	breast:
32	chr12:67430001..67432291-chr12:67437281..67438811,2	K562	blood:
33	chr12:67405871..67408664-chr12:67412311..67414518,2	MCF-7	breast:
34	chr12:67354144..67356767-chr12:67362428..67365138,2	MCF-7	breast:
35	chr12:67354444..67357348-chr12:67368007..67370761,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GRIP1-2	chr12:67429288-67429443	ENSG00000257083
2	lnc-GRIP1-5	chr12:67364375-67366403	NONHSAT029235
3	lnc-GRIP1-2	chr12:67431165-67431272	ENSG00000257083

No data

Variant related genes	Relation type
ENSG00000256248	chromatin interactions

Extended variants
information (count: 2987 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:2987 , 50 per page) page: 1 2 3 4 5 6 7 ... 60

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142096026	chr12:67357871-67357872	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs535209371	chr12:67357923-67357924	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs573579698	chr12:67357925-67357926	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs572397181	chr12:67357934-67357935	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs541464344	chr12:67357990-67357991	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs10878543	chr12:67358025-67358026	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs76962109	chr12:67358054-67358055	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs192200622	chr12:67358060-67358061	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs563894698	chr12:67358073-67358074	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs10878544	chr12:67358128-67358129	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs573952514	chr12:67358156-67358157	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs4633534	chr12:67358187-67358188	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs369899849	chr12:67358204-67358205	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs542867964	chr12:67358220-67358221	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs528771778	chr12:67358252-67358253	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs547377578	chr12:67358290-67358291	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs184227852	chr12:67358338-67358339	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs151171839	chr12:67358375-67358376	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs375293131	chr12:67358418-67358419	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188690111	chr12:67358427-67358428	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs73132091	chr12:67358430-67358431	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs74098157	chr12:67358439-67358440	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs555141395	chr12:67358447-67358448	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573921313	chr12:67358475-67358476	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540929672	chr12:67358527-67358528	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs527321896	chr12:67358528-67358529	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546953767	chr12:67358546-67358547	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs11176499	chr12:67358566-67358567	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs577931684	chr12:67358631-67358632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545499744	chr12:67358697-67358698	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181205717	chr12:67358698-67358699	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531023841	chr12:67358771-67358772	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs543283857	chr12:67358780-67358781	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374723718	chr12:67358812-67358813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs61682469	chr12:67358842-67358843	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs186281186	chr12:67358851-67358852	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546947509	chr12:67358886-67358887	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs113505263	chr12:67358915-67358916	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565683214	chr12:67358921-67358922	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189139098	chr12:67358925-67358926	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550937243	chr12:67358947-67358948	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569462781	chr12:67358961-67358962	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs1160676	chr12:67359001-67359002	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555155270	chr12:67359014-67359015	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs180716218	chr12:67359033-67359034	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs34613331	chr12:67359055-67359056	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534941212	chr12:67359075-67359076	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552958396	chr12:67359089-67359090	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200647617	chr12:67359118-67359119	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577854861	chr12:67359216-67359217	Enhancers 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
Glioblastoma multiforme	19115005	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:489 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67355600-67358200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr12:67355600-67358200	Weak transcription	HMEC	breast
3	chr12:67355600-67370000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:67356200-67359000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr12:67356400-67358000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:67356400-67358200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr12:67357200-67358400	Flanking Active TSS	Primary T cells from cord blood	blood
8	chr12:67357200-67359800	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr12:67357400-67359000	Enhancers	Primary T cells fromperipheralblood	blood
10	chr12:67357400-67359000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr12:67357400-67359400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr12:67357400-67359400	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr12:67357400-67359400	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr12:67357400-67359800	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr12:67357400-67359800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr12:67357400-67360000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr12:67357600-67359000	Enhancers	NH-A	brain
18	chr12:67357600-67359600	Enhancers	Dnd41	blood
19	chr12:67357600-67359800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr12:67357800-67358000	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr12:67357800-67359000	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr12:67357800-67359000	Enhancers	Fetal Thymus	thymus
23	chr12:67358000-67358400	Enhancers	Thymus	Thymus
24	chr12:67358000-67360800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:67358200-67358600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr12:67358200-67358600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr12:67358200-67358600	Enhancers	HMEC	breast
28	chr12:67358200-67358800	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr12:67358200-67361000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr12:67358400-67360800	Enhancers	Primary T cells from cord blood	blood
31	chr12:67359400-67360000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr12:67359800-67364200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr12:67360800-67364000	Weak transcription	Primary T cells from cord blood	blood
34	chr12:67362800-67363200	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr12:67364000-67365000	Enhancers	Primary T cells from cord blood	blood
36	chr12:67364200-67364800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr12:67370000-67371000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr12:67371000-67375600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr12:67371200-67371400	Enhancers	Colon Smooth Muscle	Colon
40	chr12:67371400-67372200	Weak transcription	Colon Smooth Muscle	Colon
41	chr12:67372200-67372600	Enhancers	Colon Smooth Muscle	Colon
42	chr12:67372200-67372800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr12:67372600-67373000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr12:67372600-67373000	Enhancers	Rectal Smooth Muscle	rectum
45	chr12:67372600-67374000	Weak transcription	Colon Smooth Muscle	Colon
46	chr12:67373000-67373400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr12:67373000-67373400	Weak transcription	Rectal Smooth Muscle	rectum
48	chr12:67373200-67373800	Enhancers	Fetal Brain Male	brain
49	chr12:67373400-67373600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr12:67373400-67373600	Enhancers	Rectal Smooth Muscle	rectum

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