Variant report

Variant	nsv885928
Chromosome Location	chr6:57400175-57481309
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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:57413449..57416181-chr6:57416496..57418603,2	K562	blood:
2	chr4:92702026..92702759-chr6:57445422..57446224,2	MCF-7	breast:
3	chr6:57444969..57446432-chr6:57539130..57540030,7	MCF-7	breast:
4	chr6:57437551..57439992-chr6:57443844..57446833,2	K562	blood:
5	chr6:57429189..57431102-chr6:57440501..57442862,2	MCF-7	breast:
6	chr6:57393591..57395977-chr6:57407320..57409957,2	MCF-7	breast:
7	chr6:57429189..57431102-chr6:57440501..57442862,2	MCF-7	breast:
8	chr6:57445367..57446031-chr6:62860058..62860574,2	MCF-7	breast:
9	chr6:57413449..57416181-chr6:57416496..57418603,2	K562	blood:
10	chr6:57472415..57474751-chr6:57478817..57480386,2	K562	blood:
11	chr6:57405693..57407850-chr6:57408076..57409919,2	K562	blood:
12	chr6:57421846..57424167-chr6:57427801..57430462,3	MCF-7	breast:
13	chr6:57405693..57407850-chr6:57408076..57409919,2	K562	blood:
14	chr6:57437551..57439992-chr6:57443844..57446833,2	K562	blood:
15	chr6:57445250..57446013-chr6:57537509..57538705,3	MCF-7	breast:
16	chr6:57460058..57461813-chr6:57464595..57467531,2	MCF-7	breast:
17	chr6:57472415..57474751-chr6:57478817..57480386,2	K562	blood:
18	chr6:57421846..57424167-chr6:57427801..57430462,3	MCF-7	breast:
19	chr6:57445326..57445995-chr6:57539539..57540106,2	MCF-7	breast:
20	chr6:57460058..57461813-chr6:57464595..57467531,2	MCF-7	breast:
21	chr6:57445356..57445958-chr6:57689666..57690275,2	MCF-7	breast:

No data

Extended variants
information (count: 4805 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:4805 , 50 per page) page: 1 2 3 4 5 6 7 ... 97

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4991127	chr6:57400177-57400178	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs533258663	chr6:57400197-57400198	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs36214596	chr6:57400224-57400225	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs545530381	chr6:57400229-57400230	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560240387	chr6:57400240-57400241	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs587598976	chr6:57400245-57400246	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs3036269	chr6:57400246-57400247	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs6459240	chr6:57400247-57400248	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs370875049	chr6:57400271-57400272	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200664123	chr6:57400273-57400274	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201171983	chr6:57400275-57400276	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs78131721	chr6:57400277-57400278	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs397738684	chr6:57400278-57400279	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs370695698	chr6:57400279-57400280	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs7744177	chr6:57400326-57400327	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs75965179	chr6:57400338-57400339	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs62399020	chr6:57400343-57400344	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7744335	chr6:57400355-57400356	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs79947160	chr6:57400366-57400367	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs527692504	chr6:57400381-57400382	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs549664485	chr6:57400391-57400392	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs79456311	chr6:57400410-57400411	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567983390	chr6:57400411-57400412	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112982385	chr6:57400418-57400419	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113991190	chr6:57400429-57400430	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs1950893	chr6:57400430-57400431	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550381386	chr6:57400461-57400462	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs75321635	chr6:57400462-57400463	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs78834984	chr6:57400469-57400470	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539159148	chr6:57400471-57400472	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557839813	chr6:57400472-57400473	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs62399021	chr6:57400479-57400480	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566306337	chr6:57400541-57400542	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533563439	chr6:57400555-57400556	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7744729	chr6:57400587-57400588	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs74756130	chr6:57400588-57400589	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs34698911	chr6:57400604-57400605	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs76173314	chr6:57400629-57400630	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113047060	chr6:57400651-57400652	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550418126	chr6:57400669-57400670	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs67047714	chr6:57400731-57400732	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs149924577	chr6:57400733-57400734	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs62399022	chr6:57400737-57400738	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs76297512	chr6:57400746-57400747	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs386701593	chr6:57400754-57400755	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544137875	chr6:57400755-57400756	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs10214721	chr6:57400780-57400781	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs529006173	chr6:57400797-57400798	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs62399023	chr6:57400801-57400802	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs556082255	chr6:57400817-57400818	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Neuroblastoma	16790693	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Intellectual disability	21811512	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Ovarian cancer	21720365	CNVD

Chromatin state (count:436 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:57387000-57401200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr6:57390600-57402600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr6:57390800-57400800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:57390800-57401600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:57393800-57402200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr6:57394200-57403600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr6:57395000-57402200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr6:57395200-57402200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr6:57396000-57401400	Weak transcription	GM12878-XiMat	blood
10	chr6:57396000-57408600	Weak transcription	Gastric	stomach
11	chr6:57396200-57403000	Weak transcription	Osteobl	bone
12	chr6:57396600-57402000	Weak transcription	Thymus	Thymus
13	chr6:57397400-57401200	Weak transcription	Dnd41	blood
14	chr6:57397600-57400600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr6:57397800-57403600	Weak transcription	Primary hematopoietic stem cells	blood
16	chr6:57399600-57401600	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr6:57399600-57402800	Weak transcription	Aorta	Aorta
18	chr6:57399600-57402800	Weak transcription	HSMM	muscle
19	chr6:57400000-57400800	Strong transcription	NHDF-Ad	bronchial
20	chr6:57400800-57401400	ZNF genes & repeats	NHDF-Ad	bronchial
21	chr6:57400800-57401600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:57401000-57408000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr6:57401200-57401800	Strong transcription	Dnd41	blood
24	chr6:57401600-57401800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
25	chr6:57401800-57412200	Weak transcription	Dnd41	blood
26	chr6:57402200-57402400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
27	chr6:57402200-57402400	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr6:57402200-57402400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr6:57402200-57404600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
30	chr6:57402400-57403600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr6:57403000-57405200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
32	chr6:57403600-57404000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr6:57403600-57404000	ZNF genes & repeats	GM12878-XiMat	blood
34	chr6:57403600-57404200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
35	chr6:57403600-57404400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr6:57403600-57404800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
37	chr6:57403600-57405000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
38	chr6:57403800-57404800	ZNF genes & repeats	Left Ventricle	heart
39	chr6:57404000-57406000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr6:57404000-57411400	Weak transcription	GM12878-XiMat	blood
41	chr6:57404800-57405800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr6:57406000-57406400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
43	chr6:57406200-57406400	Enhancers	Esophagus	oesophagus
44	chr6:57406600-57406800	Weak transcription	NHDF-Ad	bronchial
45	chr6:57408600-57408800	Enhancers	Gastric	stomach
46	chr6:57408800-57412400	Weak transcription	Gastric	stomach
47	chr6:57409200-57409800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr6:57409800-57411000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr6:57411000-57411200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr6:57411200-57412000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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