Variant report

Variant	nsv898857
Chromosome Location	chr12:20359670-20423727
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:5)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:20068451..20069047-chr12:20373146..20373740,2	MCF-7	breast:
2	chr12:19891960..19892749-chr12:20373098..20373845,3	MCF-7	breast:
3	chr12:20357513..20360077-chr12:20436701..20439478,2	K562	blood:
4	chr12:20291329..20292956-chr12:20366236..20367919,2	K562	blood:
5	chr12:20357490..20359310-chr12:20364032..20366032,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLCO1A2-2	chr12:20387841-20388052	XLOC_010028
2	lnc-SLCO1A2-2	chr12:20417034-20417097	XLOC_010028
3	lnc-SLCO1A2-2	chr12:20399536-20399565	XLOC_010028

No data

Extended variants
information (count: 1106 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:1106 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2162734	chr12:20359670-20359671	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs547918950	chr12:20359685-20359686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs564407255	chr12:20359728-20359729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs113622071	chr12:20359780-20359781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs11045117	chr12:20359791-20359792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs200317954	chr12:20359794-20359795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs569026390	chr12:20359816-20359817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs150730215	chr12:20359842-20359843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563524405	chr12:20359957-20359958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs367566832	chr12:20359958-20359959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs4281546	chr12:20359982-20359983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201492659	chr12:20359984-20359985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs548390516	chr12:20360011-20360012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs73239812	chr12:20360047-20360048	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs73239813	chr12:20360075-20360076	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs190115724	chr12:20360096-20360097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535478703	chr12:20360112-20360113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541183979	chr12:20360185-20360186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576881876	chr12:20360242-20360243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs558693181	chr12:20360253-20360254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs75419235	chr12:20360290-20360291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576189433	chr12:20360307-20360308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553761795	chr12:20360323-20360324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs73073694	chr12:20360328-20360329	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs555784274	chr12:20360364-20360365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs374926901	chr12:20360369-20360370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539305174	chr12:20360370-20360371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs143720092	chr12:20360372-20360373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541081003	chr12:20360378-20360379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs556040307	chr12:20360379-20360380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs376214556	chr12:20360445-20360446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533269662	chr12:20360477-20360478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs575802847	chr12:20360483-20360484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs139034460	chr12:20360485-20360486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542021202	chr12:20360509-20360510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs143957351	chr12:20360545-20360546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531529793	chr12:20360572-20360573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs147473743	chr12:20360599-20360600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs73075654	chr12:20360602-20360603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182806465	chr12:20360637-20360638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs527548432	chr12:20360638-20360639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs11431443	chr12:20360680-20360681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547102485	chr12:20360699-20360700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188220855	chr12:20360762-20360763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs146638731	chr12:20360778-20360779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs192507921	chr12:20360846-20360847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569962823	chr12:20360884-20360885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184360558	chr12:20360895-20360896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532560216	chr12:20360924-20360925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs555892963	chr12:20360969-20360970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
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
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
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	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
Acute promyelocytic leukemia	19109227	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	16397240	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21364760	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:402 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20356000-20364600	Weak transcription	Aorta	Aorta
2	chr12:20356400-20365400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr12:20356600-20364600	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr12:20358400-20364200	Weak transcription	Fetal Intestine Small	intestine
5	chr12:20358800-20359800	Enhancers	Hela-S3	cervix
6	chr12:20359200-20359800	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr12:20359400-20364000	Weak transcription	A549	lung
8	chr12:20359400-20364200	Weak transcription	Fetal Intestine Large	intestine
9	chr12:20359600-20364400	Weak transcription	Colon Smooth Muscle	Colon
10	chr12:20359600-20364600	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr12:20359800-20363400	Weak transcription	Hela-S3	cervix
12	chr12:20359800-20364000	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr12:20362000-20362200	Enhancers	Fetal Stomach	stomach
14	chr12:20362000-20362600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr12:20362000-20363200	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr12:20362000-20364400	Weak transcription	Fetal Brain Male	brain
17	chr12:20362200-20367200	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr12:20362400-20362600	Enhancers	Adipose Nuclei	Adipose
19	chr12:20362400-20362600	Enhancers	Fetal Brain Female	brain
20	chr12:20362400-20362600	Enhancers	Fetal Muscle Leg	muscle
21	chr12:20362400-20362600	Enhancers	Left Ventricle	heart
22	chr12:20362400-20362600	Enhancers	Ovary	ovary
23	chr12:20362400-20362600	Enhancers	Right Atrium	heart
24	chr12:20362400-20362600	Enhancers	Right Ventricle	heart
25	chr12:20362400-20362600	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr12:20362400-20364000	Weak transcription	Fetal Stomach	stomach
27	chr12:20362600-20362800	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr12:20362600-20362800	Enhancers	Rectal Smooth Muscle	rectum
29	chr12:20362600-20364000	Weak transcription	Fetal Muscle Leg	muscle
30	chr12:20362600-20364000	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr12:20362600-20364600	Weak transcription	Adipose Nuclei	Adipose
32	chr12:20362600-20365400	Weak transcription	Right Atrium	heart
33	chr12:20362600-20365600	Weak transcription	Left Ventricle	heart
34	chr12:20362800-20363000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr12:20362800-20364200	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr12:20362800-20364600	Weak transcription	Rectal Smooth Muscle	rectum
37	chr12:20362800-20364800	Weak transcription	Right Ventricle	heart
38	chr12:20362800-20365000	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr12:20363000-20364000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr12:20363200-20363600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
41	chr12:20363200-20365200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr12:20363200-20365600	Enhancers	Primary B cells from cord blood	blood
43	chr12:20363200-20366000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr12:20363400-20365800	Enhancers	Primary hematopoietic stem cells	blood
45	chr12:20363400-20365800	Enhancers	Hela-S3	cervix
46	chr12:20363600-20364400	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr12:20363600-20364600	Weak transcription	Ovary	ovary
48	chr12:20363800-20364800	Enhancers	Duodenum Mucosa	Duodenum
49	chr12:20363800-20365400	Enhancers	NH-A	brain
50	chr12:20363800-20366000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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