Variant report

Variant	nsv527194
Chromosome Location	chr6:44523591-44534397
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:44532570..44534270-chr6:44534486..44536425,2	K562	blood:
2	chr6:44525504..44527468-chr6:44529113..44531042,2	MCF-7	breast:
3	chr6:44521774..44524426-chr6:44524796..44527777,2	K562	blood:
4	chr6:44500312..44506091-chr6:44519423..44524807,5	K562	blood:
5	chr6:44499633..44501812-chr6:44521351..44523786,2	K562	blood:
6	chr6:44525504..44527468-chr6:44529113..44531042,2	MCF-7	breast:
7	chr6:44521774..44524426-chr6:44524796..44527777,2	K562	blood:

Extended variants
information (count: 465 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:465 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6939369	chr6:44523591-44523592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs557034580	chr6:44523610-44523611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs911982	chr6:44523643-44523644	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs200307510	chr6:44523668-44523669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs397755692	chr6:44523669-44523670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs140334933	chr6:44523670-44523671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs199515354	chr6:44523671-44523672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs542583253	chr6:44523672-44523673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs142170113	chr6:44523689-44523690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs571980394	chr6:44523697-44523698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs528246139	chr6:44523699-44523700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540041350	chr6:44523700-44523701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs59323737	chr6:44523712-44523713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs117012155	chr6:44523742-44523743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs56693922	chr6:44523835-44523836	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs142190987	chr6:44523889-44523890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs184264402	chr6:44523928-44523929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs554302466	chr6:44523930-44523931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs73436114	chr6:44523976-44523977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs548563131	chr6:44523991-44523992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs529976663	chr6:44523994-44523995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs538660713	chr6:44524022-44524023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs567172356	chr6:44524041-44524042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs137977107	chr6:44524092-44524093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs534341319	chr6:44524095-44524096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs543502274	chr6:44524150-44524151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs552811607	chr6:44524152-44524153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs7739888	chr6:44524173-44524174	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs151193048	chr6:44524217-44524218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs189326695	chr6:44524222-44524223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs7739795	chr6:44524262-44524263	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs7740201	chr6:44524269-44524270	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs11394133	chr6:44524295-44524296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs397818380	chr6:44524296-44524297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs28755958	chr6:44524297-44524298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs72855720	chr6:44524309-44524310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs192415238	chr6:44524367-44524368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs367559362	chr6:44524408-44524409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs573101596	chr6:44524417-44524418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs4711786	chr6:44524429-44524430	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs564782420	chr6:44524470-44524471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs576903016	chr6:44524476-44524477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs544331876	chr6:44524500-44524501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs11394134	chr6:44524506-44524507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs35979874	chr6:44524507-44524508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs10664994	chr6:44524523-44524524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs374812111	chr6:44524524-44524525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs548910868	chr6:44524551-44524552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs530017794	chr6:44524552-44524553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs548569524	chr6:44524572-44524573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Gastrointestinal stromal cancer	20818650	CNVD

Chromatin state (count:270 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44513400-44523800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:44520600-44526600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr6:44523000-44531000	Weak transcription	Ovary	ovary
4	chr6:44523200-44526200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr6:44523600-44524600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr6:44523800-44524000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr6:44523800-44524000	Enhancers	Gastric	stomach
8	chr6:44523800-44524000	Enhancers	Pancreas	Pancrea
9	chr6:44523800-44524200	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr6:44523800-44527200	Enhancers	Primary hematopoietic stem cells	blood
11	chr6:44523800-44527600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr6:44524000-44525000	Weak transcription	Pancreas	Pancrea
13	chr6:44524000-44527400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr6:44524000-44531000	Weak transcription	Gastric	stomach
15	chr6:44524200-44525400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr6:44524600-44525000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr6:44525000-44525200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr6:44525000-44525200	Enhancers	Fetal Kidney	kidney
19	chr6:44525000-44527600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr6:44525000-44529200	Enhancers	Pancreas	Pancrea
21	chr6:44525200-44525400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr6:44525200-44525800	Weak transcription	Fetal Kidney	kidney
23	chr6:44525400-44527000	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr6:44525600-44526000	Enhancers	Placenta Amnion	Placenta Amnion
25	chr6:44525800-44526000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
26	chr6:44525800-44526400	Enhancers	Fetal Lung	lung
27	chr6:44525800-44526600	Enhancers	Fetal Thymus	thymus
28	chr6:44525800-44526800	Enhancers	Fetal Stomach	stomach
29	chr6:44525800-44527800	Enhancers	Fetal Kidney	kidney
30	chr6:44526000-44526600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
31	chr6:44526000-44527800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr6:44526200-44526600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
33	chr6:44526200-44528000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr6:44526200-44528800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr6:44526400-44526600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr6:44526400-44526600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr6:44526400-44526600	Bivalent Enhancer	Colon Smooth Muscle	Colon
38	chr6:44526400-44526600	Enhancers	Left Ventricle	heart
39	chr6:44526400-44526600	Enhancers	Right Atrium	heart
40	chr6:44526400-44527200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr6:44526400-44527600	Enhancers	Fetal Brain Male	brain
42	chr6:44526400-44527800	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr6:44526400-44527800	Enhancers	Brain Substantia Nigra	brain
44	chr6:44526400-44527800	Enhancers	Rectal Smooth Muscle	rectum
45	chr6:44526400-44528200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
46	chr6:44526400-44528600	Weak transcription	Fetal Lung	lung
47	chr6:44526600-44526800	Bivalent Enhancer	Fetal Intestine Small	intestine
48	chr6:44526600-44526800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
49	chr6:44526600-44527000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr6:44526600-44527600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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