Variant report

Variant	nsv602963
Chromosome Location	chr6:39050384-39062990
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:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:38964768..38966045-chr6:39059915..39060630,3	MCF-7	breast:
2	chr6:39042906..39044931-chr6:39052683..39055087,2	MCF-7	breast:
3	chr6:39055500..39058719-chr6:39195179..39198658,3	K562	blood:
4	chr6:39055835..39056584-chr6:39271011..39271689,3	K562	blood:
5	chr6:38997151..38998027-chr6:39059643..39060342,2	MCF-7	breast:
6	chr6:38940416..38941559-chr6:39059453..39060636,4	K562	blood:
7	chr6:39062208..39065386-chr6:39081467..39083073,3	MCF-7	breast:
8	chr6:39054886..39057587-chr6:39057914..39060553,2	MCF-7	breast:
9	chr6:38940785..38941562-chr6:39059873..39060576,3	MCF-7	breast:
10	chr6:39052982..39054673-chr6:39056335..39058628,2	K562	blood:
11	chr6:39056771..39059349-chr6:39083061..39085112,2	K562	blood:
12	chr6:39062721..39065364-chr6:39067469..39070050,3	K562	blood:
13	chr6:38941129..38941714-chr6:39059120..39059717,2	MCF-7	breast:
14	chr6:38940723..38941491-chr6:39055376..39056317,2	MCF-7	breast:
15	chr6:39061249..39061773-chr6:39242560..39243109,2	MCF-7	breast:
16	chr6:39062197..39062843-chr6:39133865..39134736,2	K562	blood:
17	chr6:39059952..39062322-chr6:39081352..39083480,3	K562	blood:
18	chr6:39052982..39054673-chr6:39056335..39058628,2	K562	blood:
19	chr6:39049391..39052267-chr6:39080061..39083528,3	K562	blood:
20	chr6:39055895..39057214-chr6:39125035..39125985,4	MCF-7	breast:
21	chr6:39047800..39050333-chr6:39052277..39054288,2	K562	blood:
22	chr6:39049293..39050891-chr6:39079605..39081561,2	K562	blood:
23	chr6:39054886..39057587-chr6:39057914..39060553,2	MCF-7	breast:
24	chr6:38997318..38997990-chr6:39055855..39056407,2	MCF-7	breast:
25	chr6:39056188..39058332-chr6:39081788..39085534,3	MCF-7	breast:
26	chr6:39046271..39047893-chr6:39050344..39052466,2	K562	blood:
27	chr6:38970479..38971603-chr6:39058514..39059664,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000112167	chromatin interactions
ENSG00000164626	chromatin interactions

Extended variants
information (count: 547 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:547 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2268640	chr6:39050384-39050385	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs559263508	chr6:39050406-39050407	Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs189329132	chr6:39050407-39050408	Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs181987052	chr6:39050415-39050416	Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs140956085	chr6:39050446-39050447	Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs150217219	chr6:39050471-39050472	Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs550357194	chr6:39050479-39050480	Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs565168020	chr6:39050484-39050485	Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs57381835	chr6:39050527-39050528	Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs541204695	chr6:39050533-39050534	Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs138858123	chr6:39050535-39050536	Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs553598064	chr6:39050561-39050562	Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs573605171	chr6:39050581-39050582	Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs2268639	chr6:39050622-39050623	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
15	rs555816064	chr6:39050630-39050631	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs112859544	chr6:39050633-39050634	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs544699173	chr6:39050634-39050635	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs185902588	chr6:39050640-39050641	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs549925974	chr6:39050712-39050713	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs2268638	chr6:39050713-39050714	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs545641463	chr6:39050714-39050715	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs559101006	chr6:39050719-39050720	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs73416412	chr6:39050735-39050736	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs548051896	chr6:39050747-39050748	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs561726443	chr6:39050754-39050755	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs530385190	chr6:39050756-39050757	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs532394736	chr6:39050762-39050763	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs550541916	chr6:39050768-39050769	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs147182200	chr6:39050858-39050859	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs372504567	chr6:39050888-39050889	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs539496224	chr6:39050889-39050890	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs2268637	chr6:39050918-39050919	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs138844040	chr6:39050939-39050940	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs368036323	chr6:39050940-39050941	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs142863662	chr6:39051000-39051001	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs117958004	chr6:39051010-39051011	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs569247117	chr6:39051019-39051020	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs534923998	chr6:39051078-39051079	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs558130771	chr6:39051116-39051117	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs144639782	chr6:39051168-39051169	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs540314687	chr6:39051194-39051195	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs148398400	chr6:39051287-39051288	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs572654486	chr6:39051310-39051311	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs190670362	chr6:39051330-39051331	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs371256017	chr6:39051403-39051404	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs561874060	chr6:39051423-39051424	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs2206942	chr6:39051439-39051440	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
48	rs543890807	chr6:39051440-39051441	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs369882145	chr6:39051474-39051475	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs2268636	chr6:39051475-39051476	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Glioblastoma multiforme	21510904	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD

Chromatin state (count:195 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:39021200-39072000	Weak transcription	Gastric	stomach
2	chr6:39024200-39057800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr6:39027400-39073000	Weak transcription	Pancreas	Pancrea
4	chr6:39033600-39052200	Weak transcription	Right Ventricle	heart
5	chr6:39043400-39082000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:39045200-39054000	Weak transcription	Right Atrium	heart
7	chr6:39045600-39051600	Weak transcription	Fetal Heart	heart
8	chr6:39047400-39053000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr6:39050200-39050400	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr6:39050200-39050400	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr6:39050200-39050600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr6:39050200-39050800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr6:39050400-39050600	Enhancers	H1 Cell Line	embryonic stem cell
14	chr6:39050400-39050600	Bivalent/Poised TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr6:39050400-39055000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr6:39050400-39055600	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr6:39050600-39051000	Bivalent Enhancer	Fetal Stomach	stomach
18	chr6:39050600-39052200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr6:39050600-39052600	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr6:39050800-39052200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr6:39050800-39055200	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr6:39051000-39051200	Enhancers	Brain Germinal Matrix	brain
23	chr6:39051200-39052200	Bivalent Enhancer	Stomach Smooth Muscle	stomach
24	chr6:39051200-39052400	Weak transcription	Brain Germinal Matrix	brain
25	chr6:39051400-39051600	Bivalent Enhancer	Brain Cingulate Gyrus	brain
26	chr6:39051600-39052000	Genic enhancers	Fetal Heart	heart
27	chr6:39051800-39052000	Bivalent Enhancer	Rectal Smooth Muscle	rectum
28	chr6:39051800-39052200	Enhancers	Colon Smooth Muscle	Colon
29	chr6:39051800-39053200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
30	chr6:39051800-39053800	Bivalent Enhancer	Fetal Stomach	stomach
31	chr6:39052000-39052400	Enhancers	Fetal Heart	heart
32	chr6:39052000-39052800	Enhancers	Rectal Smooth Muscle	rectum
33	chr6:39052200-39052400	Enhancers	Brain Angular Gyrus	brain
34	chr6:39052200-39052400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
35	chr6:39052200-39052400	Enhancers	Psoas Muscle	Psoas
36	chr6:39052200-39052600	Flanking Active TSS	Stomach Smooth Muscle	stomach
37	chr6:39052200-39052800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr6:39052200-39053000	Enhancers	Left Ventricle	heart
39	chr6:39052200-39053200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr6:39052200-39053800	Enhancers	Right Ventricle	heart
41	chr6:39052200-39054200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr6:39052200-39054400	Enhancers	Fetal Lung	lung
43	chr6:39052200-39055800	Weak transcription	Colon Smooth Muscle	Colon
44	chr6:39052400-39052600	Flanking Active TSS	Fetal Heart	heart
45	chr6:39052400-39052600	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr6:39052400-39053000	Enhancers	Brain Germinal Matrix	brain
47	chr6:39052400-39053400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr6:39052400-39053400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr6:39052600-39052800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr6:39052600-39053400	Enhancers	H1 Cell Line	embryonic stem cell

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