Variant report

Variant	nsv349719
Chromosome Location	chr6:13805047-13809959
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:13805461-13805526	Fibrobl	skin:	n/a	n/a
2	GATA1	chr6:13807827-13808358	PBDE	blood:	n/a	n/a
3	GATA3	chr6:13808832-13809142	SH-SY5Y	brain:	n/a	n/a
4	JUN	chr6:13808010-13808210	K562	blood:	n/a	n/a
5	MAFK	chr6:13806613-13806649	HepG2	liver:	n/a	n/a
6	MAFK	chr6:13806619-13806668	HepG2	liver:	n/a	n/a
7	POLR2A	chr6:13807853-13808152	K562	blood:	n/a	n/a
8	POLR2A	chr6:13806402-13806419	K562	blood:	n/a	n/a
9	POLR2A	chr6:13807250-13808022	HepG2	liver:	n/a	n/a
10	POLR2A	chr6:13806996-13807126	K562	blood:	n/a	n/a
11	POLR2A	chr6:13807513-13807561	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr6:13808740-13809452	K562	blood:	n/a	n/a
13	POLR2A	chr6:13808236-13808470	HepG2	liver:	n/a	n/a
14	POLR2A	chr6:13805281-13805316	ProgFib	skin:	n/a	n/a
15	POLR2A	chr6:13808340-13808526	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr6:13800602..13802958-chr6:13809686..13812122,2	K562	blood:
2	chr6:13798318..13799850-chr6:13805538..13807303,2	K562	blood:
3	chr6:13809739..13812067-chr6:13816627..13819617,2	K562	blood:
4	chr6:13709898..13716469-chr6:13809605..13815390,11	K562	blood:
5	chr6:13800004..13802605-chr6:13804451..13808287,4	MCF-7	breast:
6	chr6:13804130..13805948-chr6:13811469..13813056,2	MCF-7	breast:
7	chr6:13803762..13806190-chr6:13812213..13816489,4	MCF-7	breast:
8	chr6:13709898..13714007-chr6:13809605..13814723,8	K562	blood:
9	chr6:13800783..13803479-chr6:13807754..13809495,2	K562	blood:
10	chr6:13800783..13803816-chr6:13807754..13809556,3	K562	blood:
11	chr6:13801488..13803691-chr6:13804657..13807650,2	K562	blood:

No data

Variant related genes	Relation type
MCUR1	TF binding region
ENSG00000010017	chromatin interactions
ENSG00000050393	chromatin interactions
ENSG00000233075	chromatin interactions

Extended variants
information (count: 176 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:176 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533729024	chr6:13805148-13805149	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs35536823	chr6:13805164-13805165	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs139291814	chr6:13805166-13805167	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs529370774	chr6:13805168-13805169	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs9396165	chr6:13805189-13805190	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs569369636	chr6:13805223-13805224	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs531600626	chr6:13805271-13805272	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs182560129	chr6:13805326-13805327	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs150013756	chr6:13805365-13805366	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs534316456	chr6:13805389-13805390	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs186188946	chr6:13805403-13805404	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs144199671	chr6:13805516-13805517	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs535293369	chr6:13805547-13805548	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs555153711	chr6:13805554-13805555	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs191648007	chr6:13805624-13805625	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs183929597	chr6:13805636-13805637	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs189235871	chr6:13805643-13805644	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs557735383	chr6:13805651-13805652	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs578151308	chr6:13805660-13805661	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs148716232	chr6:13805677-13805678	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs4510680	chr6:13805782-13805783	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs375233541	chr6:13805790-13805791	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs529495776	chr6:13805791-13805792	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs369174701	chr6:13805918-13805919	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs147952302	chr6:13805979-13805980	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs562838928	chr6:13806070-13806071	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs80101676	chr6:13806072-13806073	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs140218705	chr6:13806080-13806081	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs373251339	chr6:13806123-13806124	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs571634001	chr6:13806142-13806143	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs376565676	chr6:13806149-13806150	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs546469871	chr6:13806164-13806165	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs566461936	chr6:13806213-13806214	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs570825005	chr6:13806239-13806240	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs555581123	chr6:13806248-13806249	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs145522282	chr6:13806259-13806260	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs537954426	chr6:13806283-13806284	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs34217181	chr6:13806285-13806286	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs113438719	chr6:13806316-13806317	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs557433581	chr6:13806366-13806367	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs538937382	chr6:13806400-13806401	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs372979243	chr6:13806438-13806439	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs554497771	chr6:13806439-13806440	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs574432675	chr6:13806470-13806471	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs543196257	chr6:13806473-13806474	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs553681295	chr6:13806498-13806499	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs563110082	chr6:13806519-13806520	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs531679785	chr6:13806536-13806537	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs554047892	chr6:13806544-13806545	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs545507950	chr6:13806613-13806614	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
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
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
small cell lung cancer	20016488	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ovarian cancer	21720365	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Bladder cancer	21909424	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
abnormal development	18461090	CNVD
Cancer	16790693	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:256 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13788000-13810600	Weak transcription	Fetal Heart	heart
2	chr6:13788000-13810800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:13788000-13812200	Weak transcription	Aorta	Aorta
4	chr6:13788000-13813200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr6:13788000-13813400	Weak transcription	Brain Germinal Matrix	brain
6	chr6:13788200-13807600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:13788400-13810600	Weak transcription	Colonic Mucosa	Colon
8	chr6:13788600-13810800	Weak transcription	Stomach Mucosa	stomach
9	chr6:13788800-13810600	Weak transcription	Small Intestine	intestine
10	chr6:13788800-13812200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr6:13788800-13813600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr6:13792600-13810800	Weak transcription	Spleen	Spleen
13	chr6:13793000-13813200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr6:13794800-13812200	Weak transcription	HMEC	breast
15	chr6:13795200-13808200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr6:13795200-13810800	Weak transcription	NHLF	lung
17	chr6:13795400-13812200	Weak transcription	HUVEC	blood vessel
18	chr6:13796000-13805600	Weak transcription	NH-A	brain
19	chr6:13796000-13809800	Strong transcription	Dnd41	blood
20	chr6:13796000-13811000	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr6:13796400-13807600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr6:13796800-13809800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr6:13797000-13807000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr6:13797000-13807400	Strong transcription	Duodenum Mucosa	Duodenum
25	chr6:13797000-13807600	Strong transcription	Fetal Thymus	thymus
26	chr6:13797000-13809800	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr6:13797200-13806400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr6:13797600-13807400	Strong transcription	Fetal Stomach	stomach
29	chr6:13797600-13808200	Weak transcription	HSMM	muscle
30	chr6:13797600-13810600	Strong transcription	Fetal Intestine Small	intestine
31	chr6:13797800-13807400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr6:13798400-13807400	Strong transcription	Fetal Intestine Large	intestine
33	chr6:13798600-13807600	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr6:13799000-13807600	Strong transcription	Primary T helper cells PMA-I stimulated	--
35	chr6:13799000-13807600	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr6:13799400-13806600	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr6:13799400-13807200	Strong transcription	Placenta	Placenta
38	chr6:13799800-13811400	Weak transcription	Ovary	ovary
39	chr6:13799800-13812000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr6:13800600-13807800	Strong transcription	K562	blood
41	chr6:13800600-13813600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr6:13801200-13805400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr6:13801400-13812200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr6:13801400-13813200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr6:13801600-13805200	Weak transcription	Brain Angular Gyrus	brain
46	chr6:13801600-13805600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr6:13801600-13811000	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr6:13801600-13813200	Weak transcription	A549	lung
49	chr6:13801800-13805800	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr6:13801800-13812600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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