Variant report

Variant	nsv1019895
Chromosome Location	chr6:1832936-1882435
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:46)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:46 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:1641227..1642195-chr6:1832847..1833566,5	MCF-7	breast:
2	chr6:1838007..1840315-chr6:1844075..1845612,2	MCF-7	breast:
3	chr6:1843508..1846277-chr6:1850765..1853357,2	MCF-7	breast:
4	chr6:1838007..1840315-chr6:1844075..1845612,2	MCF-7	breast:
5	chr6:1841908..1843510-chr6:1844738..1846986,2	MCF-7	breast:
6	chr6:1858177..1860635-chr6:1865077..1867804,2	MCF-7	breast:
7	chr6:1613523..1614289-chr6:1838606..1839498,2	MCF-7	breast:
8	chr6:1868113..1870293-chr6:1878428..1880757,2	MCF-7	breast:
9	chr6:1860563..1862869-chr6:1864416..1866746,2	K562	blood:
10	chr6:1843508..1846277-chr6:1850765..1853357,2	MCF-7	breast:
11	chr6:1641265..1641834-chr6:1839284..1840013,2	MCF-7	breast:
12	chr6:1839588..1841532-chr6:1851475..1853574,2	MCF-7	breast:
13	chr6:1778842..1781326-chr6:1839801..1842724,2	MCF-7	breast:
14	chr6:1833159..1835523-chr6:1854062..1855942,2	K562	blood:
15	chr6:1856826..1858830-chr6:1861067..1863033,2	MCF-7	breast:
16	chr6:1612577..1614591-chr6:1838798..1840944,2	MCF-7	breast:
17	chr6:1876778..1878814-chr6:1880634..1882553,2	K562	blood:
18	chr6:1839714..1842732-chr6:1843630..1846250,4	MCF-7	breast:
19	chr6:1839588..1841532-chr6:1851475..1853574,2	MCF-7	breast:
20	chr6:1845499..1849284-chr6:1851999..1854046,3	K562	blood:
21	chr6:1879945..1882331-chr6:1886412..1889066,2	K562	blood:
22	chr6:1839714..1842732-chr6:1843630..1846250,4	MCF-7	breast:
23	chr6:1608467..1612521-chr6:1837362..1840946,6	MCF-7	breast:
24	chr6:1845499..1849284-chr6:1851999..1854046,3	K562	blood:
25	chr6:1833159..1835523-chr6:1854062..1855942,2	K562	blood:
26	chr6:1861369..1863684-chr6:1864416..1866242,2	K562	blood:
27	chr6:1641242..1642170-chr6:1838518..1839870,7	MCF-7	breast:
28	chr6:1762522..1764369-chr6:1837443..1839225,2	MCF-7	breast:
29	chr6:1856826..1858830-chr6:1861067..1863033,2	MCF-7	breast:
30	chr6:1839372..1842046-chr6:1850595..1852706,2	MCF-7	breast:
31	chr6:1612565..1615275-chr6:1837590..1839107,2	MCF-7	breast:
32	chr6:1858177..1860635-chr6:1865077..1867804,2	MCF-7	breast:
33	chr6:1611913..1614321-chr6:1833472..1836057,3	MCF-7	breast:
34	chr6:1841908..1843510-chr6:1844738..1846986,2	MCF-7	breast:
35	chr6:1641276..1642150-chr6:1832654..1833597,12	MCF-7	breast:
36	chr6:1829103..1830910-chr6:1832147..1834124,2	MCF-7	breast:
37	chr6:1831250..1835471-chr6:1835503..1841068,8	MCF-7	breast:
38	chr6:1876778..1878814-chr6:1880634..1882553,2	K562	blood:
39	chr6:1839372..1842046-chr6:1850595..1852706,2	MCF-7	breast:
40	chr6:1612582..1614145-chr6:1846859..1849142,2	MCF-7	breast:
41	chr6:1868113..1870293-chr6:1878428..1880757,2	MCF-7	breast:
42	chr6:1860563..1862869-chr6:1864416..1866746,2	K562	blood:
43	chr6:1831250..1835471-chr6:1835503..1841068,8	MCF-7	breast:
44	chr6:1861369..1863684-chr6:1864416..1866242,2	K562	blood:
45	chr6:1767654..1768676-chr6:1832751..1833553,3	MCF-7	breast:
46	chr6:1641276..1642209-chr6:1832654..1833597,16	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000054598	chromatin interactions

Extended variants
information (count: 1906 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:1906 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3778533	chr6:1832936-1832937	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs561275653	chr6:1832979-1832980	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs530220086	chr6:1832997-1832998	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs141076626	chr6:1832998-1832999	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs151240915	chr6:1833008-1833009	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
6	rs1028714	chr6:1833041-1833042	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
7	rs375481340	chr6:1833047-1833048	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
8	rs189209380	chr6:1833090-1833091	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
9	rs552137076	chr6:1833093-1833094	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
10	rs571248651	chr6:1833131-1833132	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
11	rs530712008	chr6:1833144-1833145	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
12	rs571916113	chr6:1833195-1833196	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
13	rs533623575	chr6:1833199-1833200	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
14	rs536363808	chr6:1833215-1833216	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs537519604	chr6:1833226-1833227	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs369731104	chr6:1833229-1833230	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs117759468	chr6:1833242-1833243	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs538675138	chr6:1833269-1833270	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs558579774	chr6:1833312-1833313	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs576009739	chr6:1833314-1833315	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs544877000	chr6:1833315-1833316	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs79026605	chr6:1833359-1833360	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs74617387	chr6:1833360-1833361	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs34633662	chr6:1833361-1833362	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs74327850	chr6:1833362-1833363	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs80117787	chr6:1833363-1833364	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs398048371	chr6:1833383-1833384	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs555158569	chr6:1833391-1833392	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs182443232	chr6:1833462-1833463	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs574092960	chr6:1833470-1833471	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs540798415	chr6:1833495-1833496	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs184136500	chr6:1833518-1833519	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs534064925	chr6:1833529-1833530	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs115480267	chr6:1833570-1833571	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs562496823	chr6:1833578-1833579	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs530723529	chr6:1833585-1833586	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs553817952	chr6:1833591-1833592	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs550567901	chr6:1833605-1833606	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs567476600	chr6:1833643-1833644	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs34447842	chr6:1833665-1833666	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs9503027	chr6:1833678-1833679	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs546760573	chr6:1833694-1833695	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs566489075	chr6:1833704-1833705	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs150272310	chr6:1833726-1833727	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs536221553	chr6:1833740-1833741	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs397841494	chr6:1833750-1833751	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs372934223	chr6:1833758-1833759	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs3800085	chr6:1833767-1833768	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs568833856	chr6:1833793-1833794	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs553337483	chr6:1833847-1833848	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Prader-willi syndrome	20588305	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Developmental delay	19490664	CNVD
Cancer	21183584	CNVD
Multiple Epiphyseal Dysplasia	20877625	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Glaucoma	18694899	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Cancer	20164920	CNVD
Colorectal cancer	21297112	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Lung cancer	18438408	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	20164919	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
small cell lung cancer	20016488	CNVD
Autism	22495311	CNVD
Autism	21448237	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-small cell lung cancer	16651412	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:799 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:1799400-1833200	Weak transcription	Gastric	stomach
2	chr6:1822200-1833000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:1822600-1837600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr6:1829400-1837800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr6:1829800-1856600	Weak transcription	Primary T cells from cord blood	blood
6	chr6:1830000-1833000	Weak transcription	Esophagus	oesophagus
7	chr6:1830000-1833600	Weak transcription	Colonic Mucosa	Colon
8	chr6:1830200-1833000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr6:1831600-1833000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr6:1831800-1838000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr6:1832400-1833000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr6:1832400-1833200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr6:1832400-1833600	Enhancers	Fetal Muscle Leg	muscle
14	chr6:1832400-1834000	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr6:1832600-1833000	Flanking Active TSS	Liver	Liver
16	chr6:1832600-1833000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr6:1832600-1833000	Enhancers	Ovary	ovary
18	chr6:1832600-1833000	Enhancers	Pancreas	Pancrea
19	chr6:1832600-1833200	Flanking Active TSS	Fetal Kidney	kidney
20	chr6:1832600-1833800	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr6:1832600-1833800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr6:1832800-1833000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr6:1832800-1833000	Enhancers	Aorta	Aorta
24	chr6:1832800-1833000	Enhancers	Brain Anterior Caudate	brain
25	chr6:1832800-1833000	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr6:1832800-1833000	Bivalent/Poised TSS	Fetal Brain Male	brain
27	chr6:1832800-1833000	Enhancers	Fetal Intestine Small	intestine
28	chr6:1832800-1833000	Bivalent Enhancer	Fetal Lung	lung
29	chr6:1832800-1833000	Enhancers	Right Atrium	heart
30	chr6:1832800-1833000	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr6:1832800-1833000	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr6:1832800-1833000	Enhancers	Osteobl	bone
33	chr6:1832800-1833200	Enhancers	NHLF	lung
34	chr6:1832800-1833400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr6:1832800-1833400	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr6:1832800-1833400	Enhancers	Brain Germinal Matrix	brain
37	chr6:1832800-1833400	Active TSS	Brain Hippocampus Middle	brain
38	chr6:1832800-1833400	Enhancers	Brain Substantia Nigra	brain
39	chr6:1832800-1833400	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr6:1832800-1833400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
41	chr6:1832800-1833400	Flanking Active TSS	HUVEC	blood vessel
42	chr6:1832800-1833600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr6:1832800-1833600	Flanking Active TSS	Adipose Nuclei	Adipose
44	chr6:1832800-1833600	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr6:1832800-1833600	Enhancers	Duodenum Mucosa	Duodenum
46	chr6:1832800-1833600	Enhancers	Rectal Smooth Muscle	rectum
47	chr6:1832800-1833600	Enhancers	Stomach Mucosa	stomach
48	chr6:1832800-1833600	Active TSS	Stomach Smooth Muscle	stomach
49	chr6:1832800-1833600	Enhancers	NHDF-Ad	bronchial
50	chr6:1832800-1833800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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