Variant report

Variant	esv2648573
Chromosome Location	chr6:24524841-24526258
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:0)
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	chr6:24525412..24526236-chr6:24563796..24564629,3	MCF-7	breast:
2	chr6:24523688..24526663-chr6:24667463..24669411,2	K562	blood:
3	chr6:24524047..24526030-chr6:24583848..24585910,2	MCF-7	breast:
4	chr6:24523679..24525395-chr6:24719900..24722362,3	K562	blood:
5	chr6:24524808..24525319-chr6:24581024..24581902,2	MCF-7	breast:
6	chr6:24524806..24525345-chr6:24766554..24767181,2	K562	blood:
7	chr6:24492475..24493366-chr6:24524815..24525673,2	MCF-7	breast:
8	chr6:24526174..24528184-chr6:24717834..24720717,3	K562	blood:
9	chr6:24524804..24525702-chr6:24695503..24696566,4	MCF-7	breast:
10	chr6:24523679..24525342-chr6:24719900..24722320,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000112308	chromatin interactions

Extended variants
information (count: 55 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530048899	chr6:24524870-24524871	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs546567104	chr6:24524918-24524919	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs569695215	chr6:24524931-24524932	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs530786865	chr6:24524947-24524948	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs190959532	chr6:24524957-24524958	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs146546887	chr6:24524988-24524989	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs552304322	chr6:24525045-24525046	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs569047439	chr6:24525100-24525101	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs537927919	chr6:24525201-24525202	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs548811865	chr6:24525202-24525203	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs568552834	chr6:24525212-24525213	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs182441757	chr6:24525237-24525238	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs538562786	chr6:24525241-24525242	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs80148733	chr6:24525270-24525271	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs538603946	chr6:24525273-24525274	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs556580158	chr6:24525278-24525279	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs577926149	chr6:24525326-24525327	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs573051124	chr6:24525360-24525361	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs558571837	chr6:24525409-24525410	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs368932666	chr6:24525412-24525413	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs374107510	chr6:24525440-24525441	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs79732030	chr6:24525445-24525446	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs574504608	chr6:24525507-24525508	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs540544808	chr6:24525600-24525601	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs560155279	chr6:24525606-24525607	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs532261544	chr6:24525641-24525642	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs111814839	chr6:24525656-24525657	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs562540416	chr6:24525696-24525697	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs531732711	chr6:24525732-24525733	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs200774667	chr6:24525751-24525752	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs533496934	chr6:24525761-24525762	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs367883568	chr6:24525771-24525772	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs370986036	chr6:24525772-24525773	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs61178893	chr6:24525774-24525775	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs548353183	chr6:24525836-24525837	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs187861059	chr6:24525859-24525860	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs148925683	chr6:24525863-24525864	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs565924931	chr6:24525880-24525881	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs79365467	chr6:24525895-24525896	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs192718420	chr6:24525903-24525904	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs34502695	chr6:24525914-24525915	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs67315927	chr6:24525922-24525923	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs386698107	chr6:24525939-24525940	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs6921564	chr6:24525953-24525954	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs184729252	chr6:24525982-24525983	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs558630209	chr6:24525987-24525988	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs114740102	chr6:24526004-24526005	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs537954064	chr6:24526034-24526035	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs188448990	chr6:24526142-24526143	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs114770795	chr6:24526156-24526157	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
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
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
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
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Bladder cancer	16790693	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Retinoblastoma	16790693	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
T-cell lymphomas	19863542	CNVD
Urothelial carcinoma	18382360	CNVD
Lung cancer	19153074	CNVD
Breast cancer	21364760	CNVD
Cancer	21183584	CNVD
Myelofibrosis	22110671	CNVD
Williams-beuren syndrome	16971481	CNVD
Uveal melanoma	20484589	CNVD
small cell lung cancer	20016488	CNVD
XY gonadal dysgenesis	20685758	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24496000-24534200	Weak transcription	Gastric	stomach
2	chr6:24496000-24538000	Weak transcription	Esophagus	oesophagus
3	chr6:24496200-24526400	Weak transcription	Right Atrium	heart
4	chr6:24496200-24527800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr6:24496200-24534200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr6:24496200-24535000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr6:24496200-24536200	Weak transcription	Psoas Muscle	Psoas
8	chr6:24496200-24583000	Weak transcription	Hela-S3	cervix
9	chr6:24496400-24532200	Weak transcription	Brain Germinal Matrix	brain
10	chr6:24496800-24532400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr6:24497000-24528200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr6:24504400-24534200	Weak transcription	Pancreas	Pancrea
13	chr6:24505400-24534000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr6:24505800-24527800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr6:24505800-24530800	Weak transcription	Right Ventricle	heart
16	chr6:24505800-24534000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr6:24505800-24534000	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr6:24506400-24530000	Weak transcription	Placenta	Placenta
19	chr6:24507400-24531400	Weak transcription	Fetal Lung	lung
20	chr6:24507600-24532400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr6:24507600-24532400	Weak transcription	Fetal Brain Female	brain
22	chr6:24507800-24532400	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr6:24507800-24536800	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr6:24507800-24539200	Weak transcription	Brain Hippocampus Middle	brain
25	chr6:24509400-24545800	Weak transcription	Small Intestine	intestine
26	chr6:24512200-24525000	Strong transcription	Fetal Intestine Small	intestine
27	chr6:24512400-24533000	Weak transcription	Brain Substantia Nigra	brain
28	chr6:24515000-24532200	Weak transcription	Primary hematopoietic stem cells	blood
29	chr6:24516000-24530800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr6:24516000-24531000	Weak transcription	Brain Anterior Caudate	brain
31	chr6:24516000-24534200	Weak transcription	Brain Angular Gyrus	brain
32	chr6:24516200-24527800	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr6:24516200-24532400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr6:24517400-24532600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr6:24517600-24532200	Weak transcription	Left Ventricle	heart
36	chr6:24518200-24527400	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr6:24518200-24530800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr6:24518600-24531600	Weak transcription	Fetal Muscle Trunk	muscle
39	chr6:24518800-24533000	Weak transcription	Spleen	Spleen
40	chr6:24519000-24532200	Weak transcription	Ovary	ovary
41	chr6:24519200-24527800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr6:24519200-24531800	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr6:24519400-24530800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr6:24521400-24532800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr6:24522400-24525400	Strong transcription	Skeletal Muscle Female	skeletal muscle
46	chr6:24522400-24526600	Strong transcription	Liver	Liver
47	chr6:24522600-24525200	Strong transcription	Stomach Smooth Muscle	stomach
48	chr6:24522600-24525400	Strong transcription	HepG2	liver
49	chr6:24522800-24525200	Strong transcription	Skeletal Muscle Male	skeletal muscle
50	chr6:24523000-24533000	Weak transcription	Fetal Kidney	kidney

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