Variant report

Variant	esv10875
Chromosome Location	chr6:13298917-13300100
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:13299129-13299248	GM12878	blood:	n/a	n/a
2	CTCF	chr6:13299140-13299290	BJ	skin:	n/a	n/a
3	PAX5	chr6:13299430-13299673	GM12891	blood:	n/a	n/a
4	POLR2A	chr6:13299403-13299482	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr6:13298893-13299401	K562	blood:	n/a	n/a
6	RAD21	chr6:13299094-13299252	K562	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:13272286..13273801-chr6:13297894..13299411,2	K562	blood:
2	chr6:13274083..13277421-chr6:13297082..13301885,5	K562	blood:
3	chr6:13298717..13301545-chr6:13301638..13304448,3	K562	blood:
4	chr6:13296819..13300441-chr6:13305761..13308537,4	K562	blood:
5	chr6:13197054..13199735-chr6:13296855..13299373,2	K562	blood:
6	chr6:13274184..13276021-chr6:13298954..13301885,2	K562	blood:
7	chr6:13253507..13255160-chr6:13298362..13301055,2	K562	blood:
8	chr6:13296423..13299352-chr6:13327386..13329977,2	MCF-7	breast:
9	chr6:13299774..13302593-chr6:13305903..13308627,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000215022	TF binding region
ENSG00000215022	chromatin interactions
ENSG00000112137	chromatin interactions
ENSG00000145979	chromatin interactions

Extended variants
information (count: 42 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147596603	chr6:13298932-13298933	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs544755401	chr6:13298982-13298983	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs909508	chr6:13298992-13298993	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs142064567	chr6:13299064-13299065	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs181060638	chr6:13299071-13299072	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs3857594	chr6:13299110-13299111	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs367939654	chr6:13299170-13299171	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs185259578	chr6:13299208-13299209	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs543454677	chr6:13299219-13299220	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs563520802	chr6:13299255-13299256	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs532669341	chr6:13299257-13299258	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs191544306	chr6:13299287-13299288	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs371737018	chr6:13299307-13299308	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs878700	chr6:13299318-13299319	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs144457775	chr6:13299364-13299365	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs547607169	chr6:13299386-13299387	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs181187565	chr6:13299392-13299393	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs114044215	chr6:13299460-13299461	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs546520	chr6:13299462-13299463	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs191419658	chr6:13299521-13299522	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs77894053	chr6:13299564-13299565	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs558328864	chr6:13299577-13299578	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs878698	chr6:13299601-13299602	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs9395628	chr6:13299606-13299607	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs554735917	chr6:13299611-13299612	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs183247832	chr6:13299671-13299672	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs570338	chr6:13299717-13299718	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs74808603	chr6:13299719-13299720	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs187946467	chr6:13299727-13299728	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs546279290	chr6:13299742-13299743	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs190862016	chr6:13299761-13299762	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs147826743	chr6:13299798-13299799	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs547646336	chr6:13299874-13299875	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs561041525	chr6:13299906-13299907	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs530037746	chr6:13299915-13299916	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs114248862	chr6:13299927-13299928	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs528290299	chr6:13299954-13299955	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs629262	chr6:13299959-13299960	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs534471264	chr6:13299976-13299977	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs552147761	chr6:13300029-13300030	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs548080518	chr6:13300041-13300042	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs629728	chr6:13300069-13300070	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:101)

Disease	PMID	Source
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
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
Autism	22495311	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
Cancer	21183584	CNVD
Acute myeloid leukemia	18000384	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Metastatic melanoma	18483359	CNVD
Pancreatic cancer	17952125	CNVD
Hodgkin''s lymphoma	17606441	CNVD
abnormal development	18461090	CNVD

Chromatin state (count:162 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13274600-13302000	Weak transcription	Small Intestine	intestine
2	chr6:13285400-13302400	Weak transcription	HUVEC	blood vessel
3	chr6:13287000-13303600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr6:13288400-13302600	Weak transcription	Hela-S3	cervix
5	chr6:13288400-13302800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr6:13288600-13302400	Strong transcription	Fetal Brain Female	brain
7	chr6:13288600-13302600	Strong transcription	Fetal Muscle Leg	muscle
8	chr6:13288600-13321000	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr6:13288600-13326400	Strong transcription	Primary T cells from cord blood	blood
10	chr6:13289000-13299800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr6:13289800-13327000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:13290200-13302800	Weak transcription	NHEK	skin
13	chr6:13290400-13310400	Strong transcription	Dnd41	blood
14	chr6:13290600-13302800	Weak transcription	Stomach Mucosa	stomach
15	chr6:13291000-13302800	Strong transcription	Fetal Stomach	stomach
16	chr6:13291200-13303000	Strong transcription	Fetal Intestine Small	intestine
17	chr6:13291200-13310400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr6:13291400-13299600	Strong transcription	Fetal Muscle Trunk	muscle
19	chr6:13291400-13300200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr6:13291400-13303600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr6:13291600-13300800	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr6:13291600-13302400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr6:13291600-13302400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr6:13291600-13302600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr6:13291600-13302600	Strong transcription	Duodenum Mucosa	Duodenum
26	chr6:13291600-13305800	Strong transcription	Thymus	Thymus
27	chr6:13291800-13301800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr6:13291800-13320400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr6:13292000-13302600	Strong transcription	Fetal Intestine Large	intestine
30	chr6:13292000-13326000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr6:13292400-13299800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr6:13292400-13302600	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr6:13292600-13299400	Weak transcription	Psoas Muscle	Psoas
34	chr6:13292600-13326600	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr6:13293000-13302800	Strong transcription	Fetal Lung	lung
36	chr6:13293200-13305400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr6:13294200-13302600	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr6:13294600-13301200	Weak transcription	Brain Angular Gyrus	brain
39	chr6:13295000-13300600	Weak transcription	NH-A	brain
40	chr6:13295000-13304800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr6:13295200-13299000	Weak transcription	Colon Smooth Muscle	Colon
42	chr6:13295200-13302200	Weak transcription	NHDF-Ad	bronchial
43	chr6:13295200-13305200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr6:13295400-13300200	Weak transcription	K562	blood
45	chr6:13295400-13302000	Weak transcription	Fetal Brain Male	brain
46	chr6:13295400-13302600	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr6:13295600-13300200	Weak transcription	HSMMtube	muscle
48	chr6:13295600-13301200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr6:13295600-13302600	Weak transcription	Esophagus	oesophagus
50	chr6:13295600-13302800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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