Variant report

Variant	nsv948495
Chromosome Location	chr12:30090771-30344772
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:30093971..30096199-chr12:30100888..30102830,2	MCF-7	breast:
2	chr12:29704988..29706078-chr12:30286679..30287383,3	MCF-7	breast:
3	chr12:30307525..30310508-chr12:30315898..30318662,2	K562	blood:
4	chr12:30213828..30214334-chr3:150320315..150321086,2	K562	blood:
5	chr12:30107931..30110000-chr12:30112088..30114969,2	K562	blood:
6	chr12:30307525..30310508-chr12:30315898..30318662,2	K562	blood:
7	chr12:29705003..29705553-chr12:30288330..30288940,2	MCF-7	breast:
8	chr12:30161244..30163502-chr12:30164390..30167375,2	K562	blood:
9	chr12:30161244..30163502-chr12:30164390..30167375,2	K562	blood:
10	chr10:66245243..66246004-chr12:30303874..30304490,2	MCF-7	breast:
11	chr12:30130967..30132688-chr12:30459870..30462012,2	MCF-7	breast:
12	chr12:30093971..30096199-chr12:30100888..30102830,2	MCF-7	breast:
13	chr12:30107931..30110000-chr12:30112088..30114969,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000198843	chromatin interactions
ENSG00000120742	chromatin interactions

Extended variants
information (count: 6767 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:6767 , 50 per page) page: 1 2 3 4 5 6 7 ... 136

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185065952	chr12:30096209-30096210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs542028365	chr12:30096223-30096224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs187021429	chr12:30096246-30096247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs575803866	chr12:30096247-30096248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs374312508	chr12:30096271-30096272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs564180325	chr12:30096272-30096273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs528452369	chr12:30096332-30096333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs117667303	chr12:30096335-30096336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs145984591	chr12:30096348-30096349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs59891253	chr12:30096357-30096358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191115249	chr12:30096512-30096513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs183661544	chr12:30096584-30096585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs189206484	chr12:30096621-30096622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs146935100	chr12:30096622-30096623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs11050573	chr12:30096671-30096672	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs193290096	chr12:30096693-30096694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs11050574	chr12:30096771-30096772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs371370019	chr12:30096825-30096826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs566506134	chr12:30096828-30096829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs79330992	chr12:30096838-30096839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs555522115	chr12:30096860-30096861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs567211515	chr12:30096877-30096878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs142304852	chr12:30096881-30096882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs563177808	chr12:30096920-30096921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs557321470	chr12:30096928-30096929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs575787646	chr12:30096969-30096970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs146153784	chr12:30097065-30097066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs148257852	chr12:30097070-30097071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs117352645	chr12:30097114-30097115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs540202122	chr12:30097117-30097118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs141265449	chr12:30097158-30097159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs529320850	chr12:30097174-30097175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs185141052	chr12:30097204-30097205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs190429423	chr12:30097222-30097223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs150759996	chr12:30097225-30097226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs573385057	chr12:30097244-30097245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs566744291	chr12:30097253-30097254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs115157113	chr12:30097286-30097287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs540685753	chr12:30097333-30097334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs527297761	chr12:30097402-30097403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs562289809	chr12:30097413-30097414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs548953959	chr12:30097421-30097422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs181737548	chr12:30097422-30097423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs367642542	chr12:30097443-30097444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs11836387	chr12:30097458-30097459	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs537585064	chr12:30097547-30097548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs556212004	chr12:30097566-30097567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs58631293	chr12:30097604-30097605	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs560240413	chr12:30097632-30097633	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs569382079	chr12:30097705-30097706	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
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
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
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	17133270	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD

Chromatin state (count:619 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30096200-30098000	Enhancers	Muscle Satellite Cultured Cells	--
2	chr12:30096800-30097000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:30096800-30099200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr12:30097000-30097200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr12:30097000-30097200	Enhancers	Aorta	Aorta
6	chr12:30097600-30097800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:30097600-30102200	Weak transcription	Aorta	Aorta
8	chr12:30102200-30102400	Enhancers	Aorta	Aorta
9	chr12:30102400-30113800	Weak transcription	Aorta	Aorta
10	chr12:30104000-30104400	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr12:30104000-30104400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr12:30104000-30104600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr12:30104200-30104400	Enhancers	Ovary	ovary
14	chr12:30112400-30113600	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr12:30112600-30112800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr12:30112800-30114000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr12:30112800-30114200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:30112800-30114200	Enhancers	Fetal Brain Male	brain
19	chr12:30112800-30114400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr12:30113800-30114200	Enhancers	Aorta	Aorta
21	chr12:30113800-30114400	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr12:30114400-30114800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr12:30114400-30123200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr12:30114800-30117800	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr12:30115000-30116400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr12:30115000-30116600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr12:30115200-30115600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr12:30120000-30121000	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr12:30121000-30122400	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr12:30122400-30126600	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr12:30122800-30125000	Enhancers	HUVEC	blood vessel
32	chr12:30123000-30125800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:30123200-30124400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr12:30123200-30124400	Enhancers	Aorta	Aorta
35	chr12:30123200-30124600	Enhancers	Spleen	Spleen
36	chr12:30123600-30125400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr12:30123800-30125000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr12:30124000-30124800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr12:30124200-30124800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr12:30124400-30126200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr12:30125800-30126400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr12:30126200-30126400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr12:30126400-30126600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr12:30132800-30133200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr12:30133600-30134200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr12:30134200-30134400	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
47	chr12:30136000-30136400	Enhancers	Ovary	ovary
48	chr12:30136600-30137000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr12:30138000-30139400	Enhancers	Aorta	Aorta
50	chr12:30139400-30143400	Weak transcription	Aorta	Aorta

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