Variant report

Variant	esv2757160
Chromosome Location	chr6:30785273-30788588
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:38)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:38 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30775890..30781762-chr6:30785090..30789723,9	MCF-7	breast:
2	chr6:30710229..30713248-chr6:30788195..30791151,4	K562	blood:
3	chr6:30762133..30768787-chr6:30785989..30790050,8	MCF-7	breast:
4	chr6:30756080..30757892-chr6:30785304..30787449,2	MCF-7	breast:
5	chr6:30786581..30788295-chr6:30794168..30796085,2	MCF-7	breast:
6	chr6:30747572..30751987-chr6:30785552..30789586,6	MCF-7	breast:
7	chr6:30786686..30788380-chr6:30859735..30862378,2	MCF-7	breast:
8	chr6:30715944..30717540-chr6:30787940..30790254,2	K562	blood:
9	chr6:30784917..30788265-chr6:30788350..30790459,3	K562	blood:
10	chr6:30787837..30792214-chr6:30792255..30797817,7	K562	blood:
11	chr6:30785194..30788010-chr6:30881650..30883433,3	K562	blood:
12	chr6:30782463..30785356-chr6:30842296..30844598,2	K562	blood:
13	chr6:30787789..30791714-chr6:30792255..30797305,10	K562	blood:
14	chr6:30784917..30788265-chr6:30788350..30790459,3	K562	blood:
15	chr6:30788219..30790360-chr6:31110500..31112207,2	MCF-7	breast:
16	chr6:30687583..30690453-chr6:30788279..30790519,3	MCF-7	breast:
17	chr6:30784948..30788264-chr6:30874888..30877242,3	MCF-7	breast:
18	chr6:30786994..30789878-chr6:30922347..30924332,2	K562	blood:
19	chr6:30709253..30713765-chr6:30784905..30790853,10	K562	blood:
20	chr6:30690499..30693062-chr6:30788565..30790679,2	MCF-7	breast:
21	chr6:30785152..30790346-chr6:30842867..30847278,6	K562	blood:
22	chr6:30710566..30711266-chr6:30785718..30786636,2	MCF-7	breast:
23	chr6:30788098..30790149-chr6:30839123..30842076,2	K562	blood:
24	chr6:30698701..30700492-chr6:30786748..30789246,2	MCF-7	breast:
25	chr6:30752526..30755713-chr6:30784163..30787914,3	MCF-7	breast:
26	chr6:30735347..30739906-chr6:30783605..30789456,10	MCF-7	breast:
27	chr6:30782136..30784193-chr6:30786260..30788074,2	MCF-7	breast:
28	chr6:30786635..30788882-chr6:31053908..31056408,2	K562	blood:
29	chr6:30779954..30784896-chr6:30785156..30789787,6	K562	blood:
30	chr6:30780598..30803497-chr6:30842531..30855110,80	MCF-7	breast:
31	chr6:30581733..30584485-chr6:30786535..30788087,2	MCF-7	breast:
32	chr6:30709799..30712568-chr6:30784877..30788022,4	K562	blood:
33	chr6:30703666..30722133-chr6:30776009..30801352,184	MCF-7	breast:
34	chr6:30784327..30791562-chr6:30848580..30853873,26	MCF-7	breast:
35	chr6:30782149..30783848-chr6:30788583..30790085,2	MCF-7	breast:
36	chr6:30735402..30739247-chr6:30785239..30791444,10	MCF-7	breast:
37	chr6:30782254..30784176-chr6:30785008..30786775,3	K562	blood:
38	chr6:30703055..30723531-chr6:30783853..30800217,151	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000201988	chromatin interactions
ENSG00000237775	chromatin interactions
ENSG00000272273	chromatin interactions
ENSG00000222894	chromatin interactions
ENSG00000233529	chromatin interactions
ENSG00000272540	chromatin interactions
ENSG00000213780	chromatin interactions
ENSG00000204580	chromatin interactions
ENSG00000137411	chromatin interactions
ENSG00000196230	chromatin interactions
ENSG00000137331	chromatin interactions
ENSG00000137312	chromatin interactions
ENSG00000228022	chromatin interactions
ENSG00000263608	chromatin interactions

Extended variants
information (count: 116 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:116 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4713380	chr6:30785273-30785274	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs369923031	chr6:30785326-30785327	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
3	rs12192760	chr6:30785385-30785386	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs558867798	chr6:30785533-30785534	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
5	rs575458689	chr6:30785711-30785712	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
6	rs538134474	chr6:30785718-30785719	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
7	rs146816233	chr6:30785730-30785731	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
8	rs574664755	chr6:30785745-30785746	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
9	rs540394180	chr6:30785755-30785756	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
10	rs376373732	chr6:30785771-30785772	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
11	rs560310698	chr6:30785821-30785822	Weak transcription Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
12	rs9380198	chr6:30785886-30785887	Weak transcription Enhancers	Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs139212242	chr6:30785915-30785916	Weak transcription Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
14	rs373222122	chr6:30785928-30785929	Weak transcription Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
15	rs17189483	chr6:30785934-30785935	Weak transcription Enhancers	Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs531153230	chr6:30786013-30786014	Weak transcription Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
17	rs17189490	chr6:30786015-30786016	Weak transcription Enhancers	Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs17195830	chr6:30786038-30786039	Weak transcription Enhancers	Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs530249198	chr6:30786054-30786055	Weak transcription Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
20	rs546763991	chr6:30786083-30786084	Weak transcription Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
21	rs566630675	chr6:30786093-30786094	Weak transcription Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
22	rs17195837	chr6:30786104-30786105	Weak transcription Enhancers	Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs552330631	chr6:30786118-30786119	Weak transcription Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
24	rs374232430	chr6:30786177-30786178	Weak transcription Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
25	rs140190077	chr6:30786178-30786179	Weak transcription Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
26	rs200838238	chr6:30786179-30786180	Weak transcription Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
27	rs572214911	chr6:30786187-30786188	Weak transcription Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
28	rs545343276	chr6:30786188-30786189	Weak transcription Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
29	rs199571877	chr6:30786193-30786194	Weak transcription Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
30	rs386698807	chr6:30786195-30786196	Weak transcription Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
31	rs17195844	chr6:30786200-30786201	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
32	rs574534984	chr6:30786205-30786206	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
33	rs574755697	chr6:30786227-30786228	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
34	rs371439294	chr6:30786255-30786256	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
35	rs201894258	chr6:30786313-30786314	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
36	rs372359263	chr6:30786317-30786318	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
37	rs62408725	chr6:30786339-30786340	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs62408726	chr6:30786456-30786457	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs371418473	chr6:30786489-30786490	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
40	rs62408727	chr6:30786517-30786518	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs555912656	chr6:30786552-30786553	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
42	rs368291982	chr6:30786563-30786564	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
43	rs9348843	chr6:30786676-30786677	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs149255731	chr6:30786694-30786695	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
45	rs561270592	chr6:30786703-30786704	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
46	rs369036650	chr6:30786706-30786707	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
47	rs530285676	chr6:30786707-30786708	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
48	rs559119401	chr6:30786833-30786834	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
49	rs369914224	chr6:30786839-30786840	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
50	rs540439694	chr6:30786859-30786860	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:122)

Disease	PMID	Source
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
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	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
Ovarian cancer	21781307	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
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
abnormal development	18461090	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Retinoblastoma	22278416	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Systemic lupus erythematosus	20877625	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Breast cancer	21364760	CNVD
Lung cancer	21569311	CNVD
Systemic lupus erythematosus	19279649	CNVD
Retinoblastoma	16790693	CNVD
Acute myocardial infarction	18032375	CNVD
Renal cell carcinoma	19150565	CNVD
Systemic lupus erythematosus	19591781	CNVD
Attention deficit hyperactivity disorder	19287146	CNVD
Autism	19287146	CNVD
Erythema nodosum in leprosy	19287146	CNVD
Henoch-schoenlein purpura	19287146	CNVD
Liver cirrhosis	19287146	CNVD
Systemic lupus erythematosus	19287146	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Systemic lupus erythematosus	19287147	CNVD
Osteosarcoma	16790693	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:215 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30779000-30794800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:30779000-30795800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr6:30779200-30790000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr6:30781200-30786400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr6:30782000-30787200	Weak transcription	Thymus	Thymus
6	chr6:30782000-30796000	Weak transcription	Pancreas	Pancrea
7	chr6:30782000-30797000	Weak transcription	Gastric	stomach
8	chr6:30782200-30787400	Weak transcription	Left Ventricle	heart
9	chr6:30782200-30787400	Weak transcription	Lung	lung
10	chr6:30782200-30787600	Weak transcription	Colonic Mucosa	Colon
11	chr6:30782200-30789600	Weak transcription	Brain Substantia Nigra	brain
12	chr6:30782400-30790000	Weak transcription	Primary T cells from cord blood	blood
13	chr6:30782600-30785400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:30782600-30785800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr6:30782600-30785800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr6:30782600-30785800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr6:30782600-30786200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr6:30782600-30786400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr6:30782600-30786400	Weak transcription	Fetal Heart	heart
20	chr6:30782600-30786400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr6:30782600-30786400	Weak transcription	Stomach Mucosa	stomach
22	chr6:30782600-30786400	Weak transcription	HSMMtube	muscle
23	chr6:30782600-30786400	Weak transcription	NHDF-Ad	bronchial
24	chr6:30782600-30786400	Weak transcription	NHLF	lung
25	chr6:30782600-30787200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr6:30782600-30787400	Weak transcription	Esophagus	oesophagus
27	chr6:30782600-30787400	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr6:30782600-30787400	Weak transcription	Right Atrium	heart
29	chr6:30782600-30787600	Weak transcription	Small Intestine	intestine
30	chr6:30782600-30787800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr6:30782600-30787800	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr6:30782600-30787800	Weak transcription	Spleen	Spleen
33	chr6:30782600-30788000	Weak transcription	Duodenum Mucosa	Duodenum
34	chr6:30782600-30788200	Weak transcription	Fetal Intestine Small	intestine
35	chr6:30782600-30789400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr6:30782600-30789600	Weak transcription	Fetal Intestine Large	intestine
37	chr6:30782600-30789800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr6:30782800-30785400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr6:30782800-30785400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr6:30782800-30785600	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr6:30782800-30785600	Weak transcription	HMEC	breast
42	chr6:30782800-30786000	Weak transcription	NH-A	brain
43	chr6:30782800-30786200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr6:30782800-30786200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr6:30782800-30786200	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr6:30782800-30786200	Weak transcription	A549	lung
47	chr6:30782800-30786200	Weak transcription	Osteobl	bone
48	chr6:30782800-30786400	Weak transcription	HSMM	muscle
49	chr6:30782800-30786600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr6:30782800-30787400	Weak transcription	Rectal Mucosa Donor 31	rectum

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