Variant report

Variant	nsv600809
Chromosome Location	chr6:1732741-1775436
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:31)
LncRNA
region (count:11)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:31 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:1762365..1765398-chr6:1767554..1769715,3	K562	blood:
2	chr6:1714828..1716630-chr6:1737875..1739669,2	MCF-7	breast:
3	chr6:1772266..1774519-chr6:1779951..1781505,2	K562	blood:
4	chr6:1640395..1643139-chr6:1772426..1774181,2	MCF-7	breast:
5	chr6:1641157..1641856-chr6:1767705..1768705,2	MCF-7	breast:
6	chr6:1762522..1764369-chr6:1837443..1839225,2	MCF-7	breast:
7	chr6:1756824..1758512-chr6:1760303..1761859,2	MCF-7	breast:
8	chr6:1759044..1762047-chr6:1765205..1768245,4	MCF-7	breast:
9	chr6:1773332..1775371-chr6:1778272..1781076,2	MCF-7	breast:
10	chr6:1743383..1745368-chr6:1746475..1748448,2	MCF-7	breast:
11	chr6:1610592..1613564-chr6:1758328..1760331,2	MCF-7	breast:
12	chr6:1759044..1762047-chr6:1765205..1768245,4	MCF-7	breast:
13	chr6:1641308..1641822-chr6:1768377..1768898,2	MCF-7	breast:
14	chr6:1769402..1771120-chr6:1775658..1777745,2	K562	blood:
15	chr6:1755640..1757171-chr6:1759989..1761623,2	K562	blood:
16	chr6:1762365..1765398-chr6:1767554..1769715,3	K562	blood:
17	chr6:1609985..1612105-chr6:1773959..1776813,2	MCF-7	breast:
18	chr6:1769402..1772177-chr6:1775658..1777982,2	K562	blood:
19	chr6:1767654..1768676-chr6:1832751..1833553,3	MCF-7	breast:
20	chr6:1606384..1611793-chr6:1762059..1766159,7	MCF-7	breast:
21	chr6:1755526..1758374-chr6:1765956..1768528,2	MCF-7	breast:
22	chr6:1616799..1619206-chr6:1761673..1763182,2	MCF-7	breast:
23	chr6:1768794..1770294-chr8:43091411..43093269,2	MCF-7	breast:
24	chr6:1756824..1758512-chr6:1760303..1761859,2	MCF-7	breast:
25	chr6:1743383..1745368-chr6:1746475..1748448,2	MCF-7	breast:
26	chr6:1755640..1757171-chr6:1759989..1761623,2	K562	blood:
27	chr6:1774055..1775958-chr6:1777177..1778698,2	K562	blood:
28	chr6:1755526..1758374-chr6:1765956..1768528,2	MCF-7	breast:
29	chr6:1728980..1730810-chr6:1735730..1738252,2	MCF-7	breast:
30	chr6:1640135..1642323-chr6:1758348..1760880,2	MCF-7	breast:
31	chr6:1641286..1642167-chr6:1767930..1768507,2	MCF-7	breast:

(count:11 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C6orf195-34	chr6:1774271-1774764	NONHSAT106546
2	lnc-FOXC1-8	chr6:1742168-1742215	NONHSAT106545
3	lnc-FOXC1-8	chr6:1741460-1741576	NONHSAT106545
4	lnc-C6orf195-34	chr6:1774271-1774764	NONHSAT106547
5	lnc-FOXC1-8	chr6:1739800-1739957	NONHSAT106545
6	lnc-FOXC1-8	chr6:1739435-1739570	NONHSAT106545
7	lnc-FOXC1-8	chr6:1741077-1741352	NONHSAT106545
8	lnc-C6orf195-34	chr6:1767197-1772399	NONHSAT106547
9	lnc-FOXC1-8	chr6:1743077-1746752	NONHSAT106545
10	lnc-FOXC1-8	chr6:1740270-1740480	NONHSAT106545
11	lnc-C6orf195-34	chr6:1767197-1772399	NONHSAT106546

No data

Variant related genes	Relation type
ENSG00000054598	chromatin interactions

Extended variants
information (count: 1789 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:1789 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6928775	chr6:1732741-1732742	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs75370904	chr6:1732746-1732747	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs543912419	chr6:1732762-1732763	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs140765639	chr6:1732765-1732766	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs6924173	chr6:1732770-1732771	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs542168732	chr6:1732771-1732772	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185943634	chr6:1732804-1732805	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs6928953	chr6:1732826-1732827	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs534416939	chr6:1732861-1732862	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs375144526	chr6:1732863-1732864	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547611800	chr6:1732868-1732869	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570554394	chr6:1732941-1732942	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs372950743	chr6:1733002-1733003	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs80277711	chr6:1733011-1733012	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs148228251	chr6:1733019-1733020	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549428331	chr6:1733023-1733024	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs569329961	chr6:1733031-1733032	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535036289	chr6:1733054-1733055	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556323724	chr6:1733067-1733068	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549419067	chr6:1733089-1733090	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566402235	chr6:1733165-1733166	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535002983	chr6:1733177-1733178	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs76812703	chr6:1733187-1733188	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568955608	chr6:1733206-1733207	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs373047232	chr6:1733216-1733217	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs578099117	chr6:1733219-1733220	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs6929393	chr6:1733262-1733263	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs557463388	chr6:1733269-1733270	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs6929402	chr6:1733278-1733279	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs543004967	chr6:1733388-1733389	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs74425062	chr6:1733398-1733399	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376441050	chr6:1733483-1733484	ZNF genes & repeats Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs559480556	chr6:1733509-1733510	ZNF genes & repeats Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs572355592	chr6:1733563-1733564	ZNF genes & repeats Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540948249	chr6:1733572-1733573	ZNF genes & repeats Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564318405	chr6:1733611-1733612	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532931466	chr6:1733614-1733615	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549466941	chr6:1733639-1733640	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563001054	chr6:1733681-1733682	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs2064316	chr6:1733702-1733703	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs374326619	chr6:1733715-1733716	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs6906968	chr6:1733746-1733747	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs6934958	chr6:1733794-1733795	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs535362659	chr6:1733797-1733798	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs551754557	chr6:1733807-1733808	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs144623774	chr6:1733817-1733818	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs56171917	chr6:1733825-1733826	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs146689696	chr6:1733826-1733827	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs114373073	chr6:1733828-1733829	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs140314747	chr6:1733881-1733882	Weak transcription Strong transcription	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:618 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:1701200-1749400	Weak transcription	Colonic Mucosa	Colon
2	chr6:1716000-1749200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr6:1721200-1746200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:1721200-1748800	Weak transcription	Osteobl	bone
5	chr6:1721400-1739400	Weak transcription	Hela-S3	cervix
6	chr6:1723000-1743200	Strong transcription	HepG2	liver
7	chr6:1725000-1737800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr6:1725200-1733400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr6:1725400-1735600	Weak transcription	Stomach Mucosa	stomach
10	chr6:1726800-1735400	Weak transcription	Gastric	stomach
11	chr6:1726800-1735600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr6:1726800-1749000	Weak transcription	Duodenum Mucosa	Duodenum
13	chr6:1726800-1749000	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr6:1727000-1735600	Weak transcription	Pancreas	Pancrea
15	chr6:1727000-1737600	Weak transcription	Primary T cells from cord blood	blood
16	chr6:1730400-1733000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr6:1730800-1735800	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr6:1731000-1736400	Weak transcription	GM12878-XiMat	blood
19	chr6:1731800-1745000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr6:1731800-1746200	Weak transcription	Right Atrium	heart
21	chr6:1732200-1732800	Weak transcription	Primary hematopoietic stem cells	blood
22	chr6:1732200-1732800	Weak transcription	Fetal Intestine Small	intestine
23	chr6:1732200-1733200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr6:1732200-1744800	Weak transcription	Aorta	Aorta
25	chr6:1732200-1750600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr6:1732200-1756600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr6:1733000-1733400	ZNF genes & repeats	Fetal Intestine Small	intestine
28	chr6:1733000-1733600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr6:1733000-1733600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr6:1733200-1733400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr6:1733400-1733600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr6:1733400-1735800	Strong transcription	Fetal Intestine Small	intestine
33	chr6:1733600-1735600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr6:1735000-1735800	Enhancers	Fetal Thymus	thymus
35	chr6:1735400-1736000	Enhancers	Esophagus	oesophagus
36	chr6:1735400-1736000	Genic enhancers	Gastric	stomach
37	chr6:1735600-1735800	Genic enhancers	Sigmoid Colon	Sigmoid Colon
38	chr6:1735600-1735800	ZNF genes & repeats	Spleen	Spleen
39	chr6:1735600-1736000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr6:1735600-1736000	Enhancers	Pancreas	Pancrea
41	chr6:1735600-1737000	Enhancers	Stomach Mucosa	stomach
42	chr6:1735800-1736000	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr6:1735800-1736400	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr6:1735800-1738000	Weak transcription	Spleen	Spleen
45	chr6:1735800-1741600	Weak transcription	Fetal Intestine Small	intestine
46	chr6:1736000-1737600	Weak transcription	Gastric	stomach
47	chr6:1736000-1737800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr6:1736000-1737800	Weak transcription	Pancreas	Pancrea
49	chr6:1736000-1746200	Weak transcription	Esophagus	oesophagus
50	chr6:1736000-1746200	Weak transcription	Sigmoid Colon	Sigmoid Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links