Variant report

Variant	nsv538092
Chromosome Location	chr6:1661111-1717786
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:53)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:53 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr6:1659597..1662358-chr6:1663128..1666835,3	K562	blood:
2	chr6:1687898..1689601-chr6:1699469..1701760,2	K562	blood:
3	chr6:1602365..1603969-chr6:1707557..1710103,2	MCF-7	breast:
4	chr6:1650312..1652659-chr6:1683276..1685859,2	MCF-7	breast:
5	chr6:1641340..1642322-chr6:1679602..1680506,3	MCF-7	breast:
6	chr6:1686716..1688297-chr6:1699129..1701507,3	MCF-7	breast:
7	chr6:1609064..1611202-chr6:1696861..1699392,3	MCF-7	breast:
8	chr6:1660153..1662358-chr6:1664089..1666835,2	K562	blood:
9	chr6:1709833..1714241-chr6:1719630..1722826,3	MCF-7	breast:
10	chr6:1704437..1707209-chr6:1712553..1715727,3	MCF-7	breast:
11	chr6:1638763..1640765-chr6:1680468..1682167,2	MCF-7	breast:
12	chr6:1692499..1695604-chr6:1698340..1700844,3	K562	blood:
13	chr6:1641618..1642150-chr6:1680027..1680532,2	MCF-7	breast:
14	chr6:1702313..1705686-chr6:1707242..1710657,4	K562	blood:
15	chr6:1604414..1605201-chr6:1686792..1687667,3	MCF-7	breast:
16	chr6:1606529..1608370-chr6:1661699..1664667,2	MCF-7	breast:
17	chr6:1670342..1674168-chr6:1677426..1680417,3	MCF-7	breast:
18	chr6:1604178..1605147-chr6:1698461..1699421,2	MCF-7	breast:
19	chr6:1706527..1710172-chr6:1711910..1715681,3	K562	blood:
20	chr6:1670342..1674168-chr6:1677426..1680417,3	MCF-7	breast:
21	chr6:1639353..1642939-chr6:1657811..1662658,4	MCF-7	breast:
22	chr6:1708672..1711562-chr6:1713048..1715527,2	K562	blood:
23	chr6:1686716..1688297-chr6:1699129..1701507,3	MCF-7	breast:
24	chr6:1607133..1612092-chr6:1684732..1690668,9	MCF-7	breast:
25	chr6:1609862..1613098-chr6:1679340..1682407,4	MCF-7	breast:
26	chr6:1640459..1644974-chr6:1686187..1689863,6	MCF-7	breast:
27	chr6:1702313..1705686-chr6:1707242..1710657,4	K562	blood:
28	chr6:1608729..1613027-chr6:1665615..1670900,5	MCF-7	breast:
29	chr6:1660153..1662358-chr6:1664089..1666835,2	K562	blood:
30	chr6:1609163..1611632-chr6:1678623..1681633,3	MCF-7	breast:
31	chr6:1708672..1711562-chr6:1713048..1715527,2	K562	blood:
32	chr6:1714828..1716630-chr6:1737875..1739669,2	MCF-7	breast:
33	chr6:1605093..1609098-chr6:1671097..1673871,3	MCF-7	breast:
34	chr6:1659597..1662358-chr6:1663128..1666835,3	K562	blood:
35	chr6:1646158..1647833-chr6:1681019..1683141,2	MCF-7	breast:
36	chr6:1688857..1691695-chr6:1693539..1695185,2	K562	blood:
37	chr6:1704437..1707209-chr6:1712553..1715727,3	MCF-7	breast:
38	chr6:1708677..1711111-chr6:1726818..1728968,2	K562	blood:
39	chr6:1687898..1689601-chr6:1699469..1701760,2	K562	blood:
40	chr6:1688857..1691695-chr6:1693539..1695185,2	K562	blood:
41	chr6:1641575..1642150-chr6:1679764..1680527,2	MCF-7	breast:
42	chr6:1687705..1689318-chr6:1909899..1912443,2	K562	blood:
43	chr6:1641612..1643839-chr6:1669976..1671799,2	MCF-7	breast:
44	chr6:1640825..1645110-chr6:1678460..1681234,5	MCF-7	breast:
45	chr6:1605266..1613695-chr6:1683912..1689235,13	MCF-7	breast:
46	chr6:1687393..1689735-chr6:1723369..1725669,2	MCF-7	breast:
47	chr6:1615844..1618039-chr6:1678564..1681319,2	MCF-7	breast:
48	chr6:1692499..1695604-chr6:1698340..1700844,3	K562	blood:
49	chr6:1685631..1688598-chr6:1691274..1692793,2	MCF-7	breast:
50	chr6:1639221..1644063-chr6:1670120..1672806,4	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C6orf195-37	chr6:1672168-1674105	ucscGeneNc_uc003mtr_2

No data

Variant related genes	Relation type
ENSG00000054598	chromatin interactions

Extended variants
information (count: 2504 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:2504 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547140902	chr6:1661115-1661116	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs563934333	chr6:1661128-1661129	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs532924668	chr6:1661206-1661207	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs150208873	chr6:1661207-1661208	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs189942470	chr6:1661336-1661337	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs182177417	chr6:1661350-1661351	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs551837999	chr6:1661364-1661365	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs185376591	chr6:1661385-1661386	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs2814806	chr6:1661389-1661390	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs138807908	chr6:1661391-1661392	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs149502910	chr6:1661404-1661405	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537174600	chr6:1661412-1661413	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189502946	chr6:1661414-1661415	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542104063	chr6:1661419-1661420	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573964247	chr6:1661431-1661432	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs139476069	chr6:1661433-1661434	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542967181	chr6:1661448-1661449	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs11242712	chr6:1661454-1661455	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs2569831	chr6:1661457-1661458	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs76074379	chr6:1661470-1661471	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs4959586	chr6:1661504-1661505	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs2814807	chr6:1661570-1661571	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs2569832	chr6:1661600-1661601	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs563355613	chr6:1661605-1661606	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs180739272	chr6:1661657-1661658	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549048230	chr6:1661673-1661674	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185401126	chr6:1661720-1661721	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112268363	chr6:1661743-1661744	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113222070	chr6:1661744-1661745	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs528830751	chr6:1661746-1661747	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs552010843	chr6:1661768-1661769	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569058636	chr6:1661792-1661793	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538044073	chr6:1661793-1661794	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564464980	chr6:1661825-1661826	Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs34782087	chr6:1661872-1661873	Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs548126731	chr6:1661908-1661909	Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs113560249	chr6:1661909-1661910	Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs76263620	chr6:1661914-1661915	Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs557181937	chr6:1661942-1661943	Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs2814808	chr6:1661962-1661963	Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs79827342	chr6:1661966-1661967	Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs112661730	chr6:1662019-1662020	Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs552988514	chr6:1662025-1662026	Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs553932007	chr6:1662029-1662030	Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs572885433	chr6:1662041-1662042	Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs368117977	chr6:1662082-1662083	Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs557597979	chr6:1662086-1662087	Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs148686384	chr6:1662100-1662101	Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs543557210	chr6:1662101-1662102	Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs563338484	chr6:1662154-1662155	Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:713 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:1633000-1679800	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr6:1641800-1662800	Weak transcription	Primary T cells from cord blood	blood
3	chr6:1643800-1671200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr6:1645000-1665800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr6:1651600-1679200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr6:1651800-1678400	Weak transcription	Aorta	Aorta
7	chr6:1653200-1662200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr6:1653400-1671200	Weak transcription	Esophagus	oesophagus
9	chr6:1656800-1667400	Strong transcription	HepG2	liver
10	chr6:1657800-1665800	Weak transcription	Duodenum Mucosa	Duodenum
11	chr6:1657800-1665800	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr6:1658400-1667000	Weak transcription	Fetal Intestine Large	intestine
13	chr6:1658600-1664600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr6:1659200-1661400	Strong transcription	Fetal Intestine Small	intestine
15	chr6:1659600-1661400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr6:1660400-1661800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr6:1660400-1664600	Weak transcription	GM12878-XiMat	blood
18	chr6:1660400-1665800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr6:1660600-1665600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr6:1660800-1662400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr6:1661000-1662600	Strong transcription	Gastric	stomach
22	chr6:1661400-1662600	Weak transcription	Fetal Muscle Leg	muscle
23	chr6:1661400-1665600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr6:1661400-1667000	Weak transcription	Fetal Intestine Small	intestine
25	chr6:1661800-1662000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr6:1661800-1662400	Bivalent Enhancer	Fetal Stomach	stomach
27	chr6:1661800-1665000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr6:1662200-1662400	Enhancers	Primary hematopoietic stem cells	blood
29	chr6:1662400-1662800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr6:1662400-1663600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr6:1662400-1663800	Enhancers	Fetal Lung	lung
32	chr6:1662400-1663800	Enhancers	Fetal Stomach	stomach
33	chr6:1662400-1671000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr6:1662600-1663600	Enhancers	Fetal Brain Male	brain
35	chr6:1662600-1663600	Enhancers	Fetal Muscle Trunk	muscle
36	chr6:1662600-1664000	Enhancers	Fetal Muscle Leg	muscle
37	chr6:1662600-1664000	Enhancers	Ovary	ovary
38	chr6:1662600-1671200	Weak transcription	Gastric	stomach
39	chr6:1662800-1663400	Enhancers	Osteobl	bone
40	chr6:1662800-1663600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr6:1662800-1663800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr6:1663400-1667400	Weak transcription	Osteobl	bone
43	chr6:1663600-1667000	Weak transcription	Fetal Muscle Trunk	muscle
44	chr6:1663600-1667600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr6:1663800-1664000	Bivalent Enhancer	Fetal Stomach	stomach
46	chr6:1664400-1664800	Enhancers	Brain Cingulate Gyrus	brain
47	chr6:1664400-1665000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr6:1664600-1665000	Enhancers	Brain Angular Gyrus	brain
49	chr6:1664600-1665000	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr6:1664600-1665200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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