Variant report

Variant	nsv527808
Chromosome Location	chr6:2122454-2145447
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:10)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:2133819..2135581-chr6:2140564..2142589,2	K562	blood:
2	chr6:2110933..2112552-chr6:2126239..2128267,2	MCF-7	breast:
3	chr6:2130543..2132757-chr6:2133403..2136232,3	K562	blood:
4	chr6:2134081..2137218-chr6:2139617..2142589,3	K562	blood:
5	chr6:2133819..2135581-chr6:2140564..2142589,2	K562	blood:
6	chr6:2128247..2132613-chr6:2133683..2136448,4	K562	blood:
7	chr6:2134081..2137218-chr6:2139617..2142589,3	K562	blood:
8	chr6:2130543..2132757-chr6:2133403..2136232,3	K562	blood:
9	chr6:2128247..2132613-chr6:2133683..2136448,4	K562	blood:
10	chr6:2040794..2041414-chr6:2132566..2133423,2	MCF-7	breast:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FOXC1-12	chr6:2125723-2125802	NONHSAT106599
2	lnc-FOXC1-12	chr6:2122596-2122839	NONHSAT106600
3	lnc-FOXC1-12	chr6:2122596-2124499	NONHSAT106601
4	lnc-FOXC1-12	chr6:2125895-2126649	NONHSAT106599
5	lnc-FOXC1-12	chr6:2123357-2124499	NONHSAT106600

No data

Extended variants
information (count: 870 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:870 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7768483	chr6:2122454-2122455	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs146988235	chr6:2122457-2122458	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547349901	chr6:2122458-2122459	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs542176674	chr6:2122460-2122461	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs141090831	chr6:2122463-2122464	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561939313	chr6:2122486-2122487	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs138180857	chr6:2122525-2122526	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189082556	chr6:2122537-2122538	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs377554220	chr6:2122552-2122553	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564620092	chr6:2122597-2122598	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs533547150	chr6:2122644-2122645	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs116123844	chr6:2122657-2122658	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs149119457	chr6:2122663-2122664	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs535796161	chr6:2122673-2122674	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs539284067	chr6:2122684-2122685	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs115583482	chr6:2122697-2122698	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs143018553	chr6:2122700-2122701	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs148204879	chr6:2122740-2122741	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs567483312	chr6:2122770-2122771	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs139941232	chr6:2122772-2122773	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs557408684	chr6:2122821-2122822	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs559206868	chr6:2122824-2122825	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs577352848	chr6:2122847-2122848	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs536815525	chr6:2122885-2122886	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs116731528	chr6:2122895-2122896	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs569221259	chr6:2122915-2122916	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs7765134	chr6:2122975-2122976	Weak transcription Enhancers Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs34909627	chr6:2122989-2122990	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs192268190	chr6:2123007-2123008	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs572348254	chr6:2123024-2123025	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs200649567	chr6:2123037-2123038	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs538360476	chr6:2123052-2123053	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs141203051	chr6:2123062-2123063	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs533482922	chr6:2123064-2123065	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs550370855	chr6:2123146-2123147	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs563735192	chr6:2123147-2123148	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs529551206	chr6:2123176-2123177	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs183789056	chr6:2123271-2123272	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs6911073	chr6:2123272-2123273	Weak transcription Enhancers Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs534303405	chr6:2123343-2123344	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs550976103	chr6:2123358-2123359	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs570980257	chr6:2123379-2123380	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs569800611	chr6:2123412-2123413	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs536750631	chr6:2123422-2123423	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs188452426	chr6:2123429-2123430	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs146200694	chr6:2123462-2123463	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs137943706	chr6:2123470-2123471	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs116076604	chr6:2123483-2123484	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs6934917	chr6:2123495-2123496	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs367602368	chr6:2123529-2123530	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
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
Chronic lymphocytic leukemia	21546498	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
Schizophrenia	23813976	CNVD

Chromatin state (count:381 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:2081600-2131800	Weak transcription	Fetal Intestine Small	intestine
2	chr6:2104400-2132000	Weak transcription	Fetal Intestine Large	intestine
3	chr6:2104600-2128200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr6:2105200-2123400	Weak transcription	Gastric	stomach
5	chr6:2108000-2126400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr6:2109600-2127800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:2109600-2133600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr6:2110200-2129000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr6:2111800-2127800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr6:2111800-2129000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr6:2112000-2124000	Weak transcription	Primary hematopoietic stem cells	blood
12	chr6:2112000-2124600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr6:2112400-2127200	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr6:2112400-2129400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr6:2114200-2134200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr6:2115600-2123600	Weak transcription	HUVEC	blood vessel
17	chr6:2116000-2134200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr6:2117800-2125200	Weak transcription	Primary T cells from cord blood	blood
19	chr6:2118000-2131800	Weak transcription	Duodenum Mucosa	Duodenum
20	chr6:2118400-2123400	Weak transcription	Pancreas	Pancrea
21	chr6:2118600-2126400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr6:2118600-2129000	Weak transcription	Aorta	Aorta
23	chr6:2119200-2127800	Weak transcription	Primary B cells from cord blood	blood
24	chr6:2119600-2132600	Weak transcription	NHEK	skin
25	chr6:2119800-2124400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr6:2120200-2123400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr6:2120800-2124600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr6:2121000-2124000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr6:2121200-2125800	Strong transcription	HepG2	liver
30	chr6:2121800-2124400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr6:2122000-2123200	Weak transcription	Small Intestine	intestine
32	chr6:2122000-2127800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr6:2122400-2127200	Weak transcription	GM12878-XiMat	blood
34	chr6:2122600-2123400	Enhancers	Brain Germinal Matrix	brain
35	chr6:2122600-2129400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr6:2122800-2127800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr6:2123200-2123400	Enhancers	Small Intestine	intestine
38	chr6:2123400-2123600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr6:2123400-2123600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr6:2123400-2123600	Genic enhancers	Gastric	stomach
41	chr6:2123400-2123600	Enhancers	Left Ventricle	heart
42	chr6:2123400-2123600	ZNF genes & repeats	Pancreas	Pancrea
43	chr6:2123400-2127600	Weak transcription	Small Intestine	intestine
44	chr6:2123600-2124400	Enhancers	HUVEC	blood vessel
45	chr6:2123600-2124600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr6:2123600-2124600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr6:2123600-2124800	Weak transcription	Pancreas	Pancrea
48	chr6:2123600-2127800	Weak transcription	Left Ventricle	heart
49	chr6:2123600-2134000	Weak transcription	Gastric	stomach
50	chr6:2124000-2125200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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