Variant report

Variant	nsv969344
Chromosome Location	chr6:2332252-2344883
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ELK4	chr6:2333336-2333433	HEK293	kidney:	n/a	n/a
2	JUND	chr6:2335250-2335472	HepG2	liver:	n/a	n/a
3	POLR2A	chr6:2341674-2341686	MCF-7	breast:	n/a	n/a
4	POLR2A	chr6:2341176-2341244	Hela-S3	cervix:	n/a	n/a
5	SETDB1	chr6:2338405-2338934	U2OS	brain:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-WRNIP1-2	chr6:2344099-2344270	ucscGeneNc_uc003mtu_1
2	lnc-WRNIP1-36	chr6:2341684-2341950	NONHSAT106649

Variant related genes	Relation type
HMGN2P28	TF binding region

Extended variants
information (count: 500 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:500 , 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	rs184141830	chr6:2332270-2332271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs146271944	chr6:2332273-2332274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs532928332	chr6:2332281-2332282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs188517425	chr6:2332282-2332283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs116414786	chr6:2332285-2332286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs549832527	chr6:2332302-2332303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs115563783	chr6:2332348-2332349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs552125201	chr6:2332364-2332365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs147875333	chr6:2332383-2332384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs531394397	chr6:2332403-2332404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs548346521	chr6:2332411-2332412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs568259543	chr6:2332423-2332424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs534011184	chr6:2332427-2332428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs555474085	chr6:2332450-2332451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs570697883	chr6:2332542-2332543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs539353617	chr6:2332586-2332587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs181379126	chr6:2332614-2332615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs558868022	chr6:2332647-2332648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs185057405	chr6:2332665-2332666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs114494474	chr6:2332689-2332690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs554674371	chr6:2332690-2332691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs572500427	chr6:2332713-2332714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs574678725	chr6:2332762-2332763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs141688146	chr6:2332806-2332807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs560544211	chr6:2332865-2332866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs115669808	chr6:2332911-2332912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs75944665	chr6:2332950-2332951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs562497388	chr6:2332956-2332957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs558256102	chr6:2332960-2332961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs578147748	chr6:2332978-2332979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs76933935	chr6:2333000-2333001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs548289819	chr6:2333026-2333027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545441255	chr6:2333040-2333041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs143700898	chr6:2333199-2333200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs148253999	chr6:2333233-2333234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141242286	chr6:2333373-2333374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570560673	chr6:2333374-2333375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539708224	chr6:2333392-2333393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374954301	chr6:2333416-2333417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs116136499	chr6:2333423-2333424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs77654133	chr6:2333558-2333559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs537885249	chr6:2333562-2333563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs1887420	chr6:2333582-2333583	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs568190976	chr6:2333605-2333606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534040411	chr6:2333640-2333641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190297160	chr6:2333651-2333652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368426170	chr6:2333671-2333672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs1887419	chr6:2333707-2333708	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs571886680	chr6:2333744-2333745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562507017	chr6:2333808-2333809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
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
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
small cell lung cancer	20016488	CNVD
Autism	22495311	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Myelofibrosis	22110671	CNVD
Uveal melanoma	20484589	CNVD
Melanoma	18172304	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:2317200-2338800	Weak transcription	Rectal Smooth Muscle	rectum
2	chr6:2325800-2334200	Weak transcription	Gastric	stomach
3	chr6:2328200-2338200	Weak transcription	Liver	Liver
4	chr6:2329600-2334400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr6:2330400-2333400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr6:2330400-2337400	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr6:2330400-2337800	Weak transcription	Spleen	Spleen
8	chr6:2331800-2335200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr6:2332200-2333000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr6:2334200-2334400	Enhancers	Gastric	stomach
11	chr6:2334600-2335800	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr6:2335000-2340200	Weak transcription	Fetal Kidney	kidney
13	chr6:2335200-2335800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
14	chr6:2335200-2336200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr6:2338200-2338400	ZNF genes & repeats	Liver	Liver
16	chr6:2338200-2339800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr6:2338600-2338800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
18	chr6:2338800-2339000	Bivalent Enhancer	Esophagus	oesophagus
19	chr6:2338800-2339200	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
20	chr6:2339200-2370000	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr6:2340000-2340400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr6:2344400-2353600	Weak transcription	Fetal Intestine Small	intestine
23	chr6:2344400-2377400	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr6:2344800-2345200	Enhancers	Duodenum Mucosa	Duodenum

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