Variant report

Variant	esv2763550
Chromosome Location	chr6:45186825-45275593
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:17)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:45271340..45273940-chr6:45277312..45279261,2	K562	blood:
2	chr6:45200553..45203015-chr6:45211837..45214861,3	K562	blood:
3	chr20:59263227..59263735-chr6:45242300..45243068,2	MCF-7	breast:
4	chr6:45232941..45235847-chr6:45236328..45239058,2	MCF-7	breast:
5	chr6:45220520..45222060-chr6:45226309..45228939,2	MCF-7	breast:
6	chr6:45226327..45228586-chr6:45230289..45234245,4	K562	blood:
7	chr6:45260561..45262170-chr6:45267835..45269561,2	K562	blood:
8	chr6:45226327..45228586-chr6:45230289..45234245,4	K562	blood:
9	chr6:45200553..45203015-chr6:45211837..45214861,3	K562	blood:
10	chr6:45235925..45238854-chr6:45344533..45347145,2	K562	blood:
11	chr6:45263673..45265578-chr6:45288685..45291243,2	K562	blood:
12	chr6:45213921..45216260-chr6:45230809..45233624,3	K562	blood:
13	chr6:45271337..45274007-chr6:45344284..45348156,3	K562	blood:
14	chr6:45220520..45222060-chr6:45226309..45228939,2	MCF-7	breast:
15	chr6:45260561..45262170-chr6:45267835..45269561,2	K562	blood:
16	chr6:45232941..45235847-chr6:45236328..45239058,2	MCF-7	breast:
17	chr6:45213921..45216260-chr6:45230809..45233624,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CLIC5-3	chr6:45218692-45218873	NONHSAT112976
2	lnc-CLIC5-2	chr6:45227949-45228305	ENSG00000230554.1
3	lnc-CLIC5-2	chr6:45227825-45227890	ENSG00000230554.1

No data

Variant related genes	Relation type
ENSG00000196284	chromatin interactions

Extended variants
information (count: 3496 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:3496 , 50 per page) page: 1 2 3 4 5 6 7 ... 70

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527992771	chr6:45186836-45186837	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs553165243	chr6:45186848-45186849	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs149772973	chr6:45186858-45186859	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs538200297	chr6:45186883-45186884	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs369387283	chr6:45186919-45186920	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538909603	chr6:45186921-45186922	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs557235789	chr6:45186930-45186931	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs377624235	chr6:45186956-45186957	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575481536	chr6:45186976-45186977	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs184941341	chr6:45186979-45186980	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554312387	chr6:45186980-45186981	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572595203	chr6:45187009-45187010	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373685404	chr6:45187057-45187058	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs80311223	chr6:45187061-45187062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs145688559	chr6:45187095-45187096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528815521	chr6:45187109-45187110	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544514909	chr6:45187110-45187111	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189875253	chr6:45187115-45187116	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182088380	chr6:45187167-45187168	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185494771	chr6:45187184-45187185	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566885236	chr6:45187189-45187190	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs75275564	chr6:45187192-45187193	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550198877	chr6:45187279-45187280	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536880373	chr6:45187285-45187286	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570008353	chr6:45187310-45187311	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs552729544	chr6:45187316-45187317	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs148694375	chr6:45187318-45187319	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556465518	chr6:45187388-45187389	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538819351	chr6:45187477-45187478	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190824124	chr6:45187495-45187496	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs142205126	chr6:45187515-45187516	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs146749320	chr6:45187543-45187544	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs140359363	chr6:45187545-45187546	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs9349317	chr6:45187548-45187549	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs13340453	chr6:45187551-45187552	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184924240	chr6:45187554-45187555	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558215898	chr6:45187555-45187556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs10948216	chr6:45187556-45187557	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs558534267	chr6:45187611-45187612	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs10948217	chr6:45187618-45187619	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs189780026	chr6:45187639-45187640	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531981468	chr6:45187652-45187653	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs530380389	chr6:45187653-45187654	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs535226852	chr6:45187679-45187680	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560483819	chr6:45187690-45187691	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527704914	chr6:45187691-45187692	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376865687	chr6:45187732-45187733	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112983096	chr6:45187733-45187734	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181098941	chr6:45187735-45187736	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs80340644	chr6:45187777-45187778	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
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
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
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
abnormal development	18461090	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16790693	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Systemic lupus erythematosus	19287148	CNVD
Colorectal cancer	19359472	CNVD
Multiple myeloma	16616336	CNVD
Chordoma	18071362	CNVD
Follicular lymphoma	16790693	CNVD
Osteosarcoma	19286668	CNVD
Neurocytoma	17123091	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Ovarian cancer	20844748	CNVD
lymphocytic leukemia	21291569	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	23813976	CNVD
Heart disease	21282601	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Breast cancer	16608533	CNVD

Chromatin state (count:264 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45186200-45189200	Weak transcription	HSMM	muscle
2	chr6:45186600-45187000	Enhancers	Stomach Mucosa	stomach
3	chr6:45186800-45188000	Enhancers	Dnd41	blood
4	chr6:45189800-45192800	Weak transcription	Primary B cells from cord blood	blood
5	chr6:45190000-45190400	Enhancers	K562	blood
6	chr6:45190200-45190800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr6:45190600-45191000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:45196600-45199600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr6:45196800-45207600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:45197400-45198800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:45198800-45200400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr6:45198800-45200400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr6:45199000-45200800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr6:45199600-45200200	Weak transcription	Ovary	ovary
15	chr6:45199600-45201200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr6:45199600-45201400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
17	chr6:45199600-45201400	ZNF genes & repeats	Dnd41	blood
18	chr6:45199600-45201600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr6:45199800-45200400	ZNF genes & repeats	Brain Angular Gyrus	brain
20	chr6:45199800-45201000	Weak transcription	Fetal Heart	heart
21	chr6:45199800-45201200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
22	chr6:45199800-45201400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr6:45200000-45200400	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
24	chr6:45200000-45200600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
25	chr6:45200000-45201200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr6:45200000-45201200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr6:45200000-45201200	ZNF genes & repeats	Fetal Intestine Small	intestine
28	chr6:45200200-45200400	ZNF genes & repeats	Ovary	ovary
29	chr6:45200200-45200600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr6:45200200-45201600	ZNF genes & repeats	Fetal Intestine Large	intestine
31	chr6:45200400-45201200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr6:45200400-45201200	ZNF genes & repeats	Fetal Stomach	stomach
33	chr6:45200400-45201200	Strong transcription	Ovary	ovary
34	chr6:45200400-45201400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr6:45200400-45201400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr6:45200400-45201400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr6:45200600-45200800	ZNF genes & repeats	Primary B cells from cord blood	blood
38	chr6:45200600-45201200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr6:45200600-45201200	ZNF genes & repeats	Esophagus	oesophagus
40	chr6:45200600-45201200	ZNF genes & repeats	Lung	lung
41	chr6:45200800-45201000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr6:45200800-45201200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr6:45200800-45201400	Strong transcription	Primary B cells from cord blood	blood
44	chr6:45201000-45201400	ZNF genes & repeats	Aorta	Aorta
45	chr6:45201000-45201400	ZNF genes & repeats	Fetal Heart	heart
46	chr6:45201000-45201600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr6:45201000-45203400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr6:45201200-45201800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr6:45201200-45203400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr6:45201200-45203800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links