Variant report

Variant	nsv1040723
Chromosome Location	chr12:67329322-67396230
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:18)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:67314178..67315962-chr12:67342919..67344851,2	K562	blood:
2	chr12:67376717..67378720-chr12:67409319..67411495,2	MCF-7	breast:
3	chr12:67331706..67333236-chr12:67337234..67339922,2	K562	blood:
4	chr12:67331706..67334297-chr12:67337234..67339922,3	K562	blood:
5	chr12:67354444..67357348-chr12:67368007..67370761,2	MCF-7	breast:
6	chr12:67390978..67393668-chr12:67401763..67404161,2	MCF-7	breast:
7	chr12:67346635..67348185-chr12:67352722..67355002,2	MCF-7	breast:
8	chr12:67352176..67353838-chr12:67356274..67358051,2	MCF-7	breast:
9	chr12:67322533..67324494-chr12:67328156..67330477,2	K562	blood:
10	chr12:67352176..67353838-chr12:67356274..67358051,2	MCF-7	breast:
11	chr12:67331706..67333236-chr12:67337234..67339922,2	K562	blood:
12	chr12:67354144..67356767-chr12:67362428..67365138,2	MCF-7	breast:
13	chr12:67354444..67357348-chr12:67368007..67370761,2	MCF-7	breast:
14	chr12:67346635..67348185-chr12:67352722..67355002,2	MCF-7	breast:
15	chr12:67352323..67355212-chr12:67461055..67464112,3	MCF-7	breast:
16	chr12:67331706..67334297-chr12:67337234..67339922,3	K562	blood:
17	chr12:67352783..67353464-chr12:67479586..67480363,2	MCF-7	breast:
18	chr12:67354144..67356767-chr12:67362428..67365138,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CAND1-4	chr12:67350633-67350919	l_673_chr12:67349535-67350919_adrenal
2	lnc-CAND1-4	chr12:67349536-67349564	l_673_chr12:67349535-67350919_adrenal
3	lnc-GRIP1-5	chr12:67364375-67366403	NONHSAT029235
4	lnc-CAND1-4	chr12:67350272-67350614	l_673_chr12:67349535-67350919_adrenal

No data

Variant related genes	Relation type
ENSG00000256248	chromatin interactions

Extended variants
information (count: 2469 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:2469 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12818966	chr12:67329322-67329323	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs182253679	chr12:67329324-67329325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs527669603	chr12:67329353-67329354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs545996712	chr12:67329360-67329361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs149878881	chr12:67329397-67329398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531815111	chr12:67329401-67329402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs73333038	chr12:67329429-67329430	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs58957383	chr12:67329440-67329441	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs529591693	chr12:67329522-67329523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571260499	chr12:67329548-67329549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs186606932	chr12:67329590-67329591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547665143	chr12:67329591-67329592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533549119	chr12:67329627-67329628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554473016	chr12:67329662-67329663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs111765833	chr12:67329678-67329679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533750193	chr12:67329733-67329734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs552011719	chr12:67329737-67329738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs192691341	chr12:67329775-67329776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs9668743	chr12:67329783-67329784	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs199751270	chr12:67329793-67329794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs377402859	chr12:67329803-67329804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs149122527	chr12:67329903-67329904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556442478	chr12:67329957-67329958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542827659	chr12:67329978-67329979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574661059	chr12:67330009-67330010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556309859	chr12:67330062-67330063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183831042	chr12:67330109-67330110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs188896104	chr12:67330191-67330192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs143120784	chr12:67330192-67330193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559275918	chr12:67330207-67330208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs35370978	chr12:67330226-67330227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs114084602	chr12:67330247-67330248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs138648762	chr12:67330259-67330260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs118099430	chr12:67330284-67330285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561973986	chr12:67330288-67330289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545061081	chr12:67330335-67330336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529432349	chr12:67330346-67330347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547702189	chr12:67330349-67330350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs559971569	chr12:67330405-67330406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs527295242	chr12:67330423-67330424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs552188521	chr12:67330453-67330454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs570347521	chr12:67330514-67330515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs10506512	chr12:67330560-67330561	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs12825803	chr12:67330574-67330575	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs192911676	chr12:67330575-67330576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs185177052	chr12:67330578-67330579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs553785417	chr12:67330580-67330581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs572263455	chr12:67330581-67330582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs116250415	chr12:67330599-67330600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs61918817	chr12:67330600-67330601	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:85)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Glioblastoma multiforme	19115005	CNVD
Melanoma	20877625	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:300 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67323800-67330400	Weak transcription	Primary T cells from cord blood	blood
2	chr12:67328400-67335200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr12:67328800-67339200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:67329200-67332800	Weak transcription	Colon Smooth Muscle	Colon
5	chr12:67329200-67335200	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr12:67330400-67330800	Enhancers	Primary T cells from cord blood	blood
7	chr12:67330800-67334000	Weak transcription	Primary T cells from cord blood	blood
8	chr12:67332800-67336600	Enhancers	Colon Smooth Muscle	Colon
9	chr12:67333000-67333200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr12:67333200-67335200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr12:67333800-67335800	Enhancers	NH-A	brain
12	chr12:67334000-67334200	Enhancers	Primary T cells from cord blood	blood
13	chr12:67334200-67334600	Weak transcription	Primary T cells from cord blood	blood
14	chr12:67334600-67336000	Enhancers	Primary T cells from cord blood	blood
15	chr12:67334800-67335800	Enhancers	Hela-S3	cervix
16	chr12:67334800-67336200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr12:67335000-67335400	Enhancers	HMEC	breast
18	chr12:67335000-67335600	Enhancers	A549	lung
19	chr12:67335000-67338200	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr12:67335200-67335400	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr12:67335200-67335800	Enhancers	Rectal Smooth Muscle	rectum
22	chr12:67335200-67336400	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr12:67335200-67336800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr12:67335200-67337600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr12:67335200-67338000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr12:67335400-67336800	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr12:67335400-67337000	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr12:67335400-67340800	Weak transcription	HMEC	breast
29	chr12:67335600-67336800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:67335600-67337200	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr12:67335800-67337200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr12:67335800-67345200	Weak transcription	Rectal Smooth Muscle	rectum
33	chr12:67336000-67337800	Weak transcription	Primary T cells from cord blood	blood
34	chr12:67336200-67336400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
35	chr12:67336200-67336600	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr12:67336400-67337400	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr12:67336400-67338400	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr12:67336400-67338600	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr12:67336400-67343600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr12:67336600-67337800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr12:67336600-67338000	Weak transcription	Colon Smooth Muscle	Colon
42	chr12:67336600-67338600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr12:67336800-67337800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr12:67336800-67338000	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr12:67337000-67338000	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr12:67337200-67338200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr12:67337200-67338200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr12:67337400-67337800	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr12:67337600-67344800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr12:67337800-67338200	Enhancers	Brain Anterior Caudate	brain

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