Variant report

Variant	nsv524717
Chromosome Location	chr6:39139764-39149140
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:39144434..39148189-chr6:39148364..39150360,3	K562	blood:
2	chr6:39138537..39141644-chr6:39194959..39198507,3	K562	blood:
3	chr6:39145690..39147325-chr6:39148809..39151666,2	MCF-7	breast:
4	chr6:39135364..39137798-chr6:39146976..39150175,3	K562	blood:
5	chr6:39145356..39147354-chr6:39149327..39151993,3	K562	blood:
6	chr6:39145278..39148548-chr6:39191713..39196059,4	K562	blood:
7	chr6:39148107..39150094-chr6:39152838..39154749,3	MCF-7	breast:
8	chr6:39148774..39151359-chr6:39193575..39195195,2	K562	blood:
9	chr6:39145690..39147325-chr6:39148809..39151666,2	MCF-7	breast:
10	chr6:39146215..39148913-chr6:39269564..39272045,2	MCF-7	breast:
11	chr6:39147161..39148825-chr6:39159496..39161252,2	K562	blood:
12	chr6:39144434..39148189-chr6:39148364..39150360,3	K562	blood:
13	chr6:39141745..39144055-chr6:39195107..39197568,2	MCF-7	breast:
14	chr6:39145278..39148040-chr6:39193328..39197491,3	K562	blood:
15	chr6:39148178..39150759-chr6:39195877..39198514,2	K562	blood:
16	chr6:39146675..39149644-chr6:39153708..39155552,2	K562	blood:
17	chr6:39138230..39140824-chr6:39155196..39157727,3	K562	blood:
18	chr6:39139089..39141843-chr6:39153750..39157319,3	MCF-7	breast:
19	chr6:39146393..39149644-chr6:39153708..39157375,4	K562	blood:
20	chr6:39136826..39139018-chr6:39145230..39147827,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000164626	chromatin interactions

Extended variants
information (count: 359 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:359 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7747840	chr6:39139764-39139765	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs543727130	chr6:39139784-39139785	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs183226729	chr6:39139796-39139797	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs577456260	chr6:39139806-39139807	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs114414075	chr6:39139841-39139842	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs558545054	chr6:39139845-39139846	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs559653395	chr6:39139866-39139867	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs368237687	chr6:39139873-39139874	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs528587269	chr6:39139885-39139886	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs557710891	chr6:39139891-39139892	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs187919199	chr6:39139943-39139944	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs561090611	chr6:39140004-39140005	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs190925697	chr6:39140037-39140038	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs79217998	chr6:39140040-39140041	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs59763187	chr6:39140069-39140070	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs540759313	chr6:39140095-39140096	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs755852	chr6:39140125-39140126	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs113136009	chr6:39140154-39140155	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs551886975	chr6:39140170-39140171	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs565627919	chr6:39140180-39140181	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs149220680	chr6:39140209-39140210	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs182721635	chr6:39140275-39140276	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs567793129	chr6:39140295-39140296	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs369574237	chr6:39140296-39140297	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs371279146	chr6:39140307-39140308	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs542628268	chr6:39140308-39140309	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs577471123	chr6:39140342-39140343	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs540084370	chr6:39140348-39140349	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs553107203	chr6:39140354-39140355	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs188458136	chr6:39140358-39140359	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs755853	chr6:39140384-39140385	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs562195530	chr6:39140416-39140417	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs575797077	chr6:39140423-39140424	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs543690878	chr6:39140454-39140455	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs563453482	chr6:39140498-39140499	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs532316670	chr6:39140502-39140503	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs192843445	chr6:39140599-39140600	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs11752785	chr6:39140612-39140613	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs559109397	chr6:39140656-39140657	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs529877043	chr6:39140691-39140692	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs2561415	chr6:39140698-39140699	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs115515599	chr6:39140769-39140770	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs138824923	chr6:39140786-39140787	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs115738454	chr6:39140787-39140788	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs531584753	chr6:39140798-39140799	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs373333892	chr6:39140843-39140844	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs550902116	chr6:39140889-39140890	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs75985001	chr6:39140985-39140986	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs570989319	chr6:39141019-39141020	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs549970627	chr6:39141032-39141033	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
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
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	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
Hepatocellular carcinoma	16750200	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Osteosarcoma	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
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Lung cancer	19153074	CNVD
Ovarian cancer	21720365	CNVD
Melanoma	21693616	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Breast cancer	16397240	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
abnormal development	18461090	CNVD
Breast cancer	17603634	CNVD
Cancer	20164919	CNVD
Sotos syndrome	21204797	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:39138000-39139800	Weak transcription	Gastric	stomach
2	chr6:39138800-39140000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr6:39138800-39146400	Weak transcription	Stomach Mucosa	stomach
4	chr6:39139000-39139800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
5	chr6:39139000-39140400	ZNF genes & repeats	Fetal Intestine Small	intestine
6	chr6:39139200-39140000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:39139200-39140000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
8	chr6:39139400-39139800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
9	chr6:39139400-39139800	ZNF genes & repeats	Fetal Lung	lung
10	chr6:39139400-39140000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr6:39139400-39140200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
12	chr6:39139400-39140200	ZNF genes & repeats	Fetal Stomach	stomach
13	chr6:39139600-39140000	Enhancers	Pancreas	Pancrea
14	chr6:39139600-39140200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
15	chr6:39139600-39157600	Weak transcription	Ovary	ovary
16	chr6:39139800-39140000	ZNF genes & repeats	Gastric	stomach
17	chr6:39139800-39140200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr6:39140000-39140400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr6:39140000-39145200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr6:39140000-39146000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr6:39140000-39148800	Weak transcription	Pancreas	Pancrea
22	chr6:39140200-39140600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr6:39140200-39142000	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr6:39140200-39145200	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr6:39140200-39147800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr6:39140400-39142000	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr6:39140400-39142000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr6:39140400-39142400	Weak transcription	Fetal Intestine Small	intestine
29	chr6:39140600-39141600	Enhancers	Primary hematopoietic stem cells	blood
30	chr6:39140600-39141600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr6:39140600-39141800	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr6:39141400-39141600	Weak transcription	Gastric	stomach
33	chr6:39142400-39142600	Enhancers	Fetal Intestine Small	intestine
34	chr6:39144200-39144800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr6:39144800-39145600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
36	chr6:39145200-39145400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
37	chr6:39145200-39145400	ZNF genes & repeats	Gastric	stomach
38	chr6:39145200-39145800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
39	chr6:39145400-39154600	Weak transcription	Gastric	stomach
40	chr6:39145600-39152200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr6:39145800-39152400	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr6:39146000-39146200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr6:39146000-39146200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr6:39146000-39146400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr6:39146000-39147400	Enhancers	Fetal Intestine Large	intestine
46	chr6:39146200-39147600	Enhancers	Fetal Intestine Small	intestine
47	chr6:39146200-39148600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr6:39146200-39152800	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr6:39146200-39160400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr6:39146400-39146600	Enhancers	ES-I3 Cell Line	embryonic stem cell

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