Variant report

Variant	esv3391799
Chromosome Location	chr10:6426846-6431244
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:6336243..6339206-chr10:6427846..6430034,2	MCF-7	breast:
2	chr10:6421837..6423700-chr10:6429679..6431560,2	MCF-7	breast:
3	chr10:6426504..6429518-chr10:6435004..6438172,3	MCF-7	breast:
4	chr10:6242556..6245849-chr10:6429136..6431371,4	MCF-7	breast:
5	chr10:6243729..6245988-chr10:6425970..6427736,2	MCF-7	breast:
6	chr10:6428885..6430498-chr10:6435186..6436882,2	MCF-7	breast:
7	chr10:6242967..6246327-chr10:6423283..6428365,4	MCF-7	breast:
8	chr10:6409324..6412633-chr10:6424291..6427904,3	MCF-7	breast:
9	chr10:6394666..6396685-chr10:6425529..6427954,2	MCF-7	breast:
10	chr10:6320988..6323226-chr10:6428570..6430492,2	MCF-7	breast:
11	chr10:6242870..6245619-chr10:6428211..6431866,3	MCF-7	breast:
12	chr10:6409518..6411373-chr10:6428852..6430851,2	MCF-7	breast:
13	chr10:6423351..6425174-chr10:6425567..6427975,2	MCF-7	breast:
14	chr10:6339981..6341771-chr10:6430124..6433037,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000226705	chromatin interactions
ENSG00000213994	chromatin interactions
ENSG00000170525	chromatin interactions

Extended variants
information (count: 192 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:192 , 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	rs12357684	chr10:6426966-6426967	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs565206922	chr10:6427050-6427051	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs532555351	chr10:6427077-6427078	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs28472574	chr10:6427103-6427104	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs566459590	chr10:6427104-6427105	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs185539104	chr10:6427138-6427139	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs548807016	chr10:6427160-6427161	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs567466409	chr10:6427161-6427162	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs537599598	chr10:6427189-6427190	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs556243429	chr10:6427205-6427206	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs141604100	chr10:6427217-6427218	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs188638235	chr10:6427274-6427275	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs574602760	chr10:6427287-6427288	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs553778874	chr10:6427294-6427295	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs535654049	chr10:6427311-6427312	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs572821942	chr10:6427325-6427326	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs543332977	chr10:6427346-6427347	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs561524276	chr10:6427359-6427360	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs117006598	chr10:6427374-6427375	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs146217396	chr10:6427402-6427403	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs543619991	chr10:6427415-6427416	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs375385950	chr10:6427445-6427446	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs556849509	chr10:6427477-6427478	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs532478978	chr10:6427480-6427481	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs12218746	chr10:6427520-6427521	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs371684542	chr10:6427545-6427546	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs137875017	chr10:6427613-6427614	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs572226903	chr10:6427621-6427622	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs548872047	chr10:6427673-6427674	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs373235973	chr10:6427705-6427706	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs546360225	chr10:6427714-6427715	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs181517553	chr10:6427718-6427719	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs142380778	chr10:6427755-6427756	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs538057136	chr10:6427797-6427798	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs549692180	chr10:6427814-6427815	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs377309882	chr10:6427815-6427816	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs538732018	chr10:6427819-6427820	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs11593119	chr10:6427874-6427875	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs375311193	chr10:6427929-6427930	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs185898663	chr10:6427932-6427933	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs12763729	chr10:6427952-6427953	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs554400034	chr10:6427998-6427999	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs534186743	chr10:6428063-6428064	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs536207525	chr10:6428077-6428078	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs555260605	chr10:6428114-6428115	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs116168905	chr10:6428123-6428124	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs7898161	chr10:6428142-6428143	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs7910493	chr10:6428195-6428196	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs149122757	chr10:6428227-6428228	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs191093229	chr10:6428326-6428327	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Cancer	21129771	CNVD
Colorectal cancer	20709793	CNVD
Wilms tumour	19047088	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Barakat syndrome	22470819	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	21720365	CNVD
Autism	18414403	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22032731	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Renal cell carcinoma	18765545	CNVD
lymphocytic leukemia	21291569	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:6423400-6428400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr10:6424600-6427000	Weak transcription	Colonic Mucosa	Colon
3	chr10:6424800-6427400	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr10:6424800-6428200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
5	chr10:6424800-6429200	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr10:6425000-6428800	Enhancers	Brain Anterior Caudate	brain
7	chr10:6425200-6427800	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr10:6425600-6427000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr10:6425600-6427000	Weak transcription	Lung	lung
10	chr10:6425600-6427000	Weak transcription	HSMM	muscle
11	chr10:6425600-6427200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr10:6425600-6427200	Weak transcription	Spleen	Spleen
13	chr10:6425600-6427200	Weak transcription	NHDF-Ad	bronchial
14	chr10:6425600-6427400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr10:6425600-6427400	Weak transcription	Gastric	stomach
16	chr10:6425600-6427400	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr10:6425600-6427600	Weak transcription	A549	lung
18	chr10:6425600-6427600	Weak transcription	NHLF	lung
19	chr10:6425600-6430200	Weak transcription	Dnd41	blood
20	chr10:6425600-6430800	Weak transcription	Adipose Nuclei	Adipose
21	chr10:6425600-6432800	Weak transcription	Ovary	ovary
22	chr10:6425600-6443600	Weak transcription	Aorta	Aorta
23	chr10:6425800-6427600	Weak transcription	Brain Hippocampus Middle	brain
24	chr10:6426000-6427200	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr10:6426200-6427000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr10:6426200-6427600	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr10:6426200-6428400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr10:6426400-6427000	Enhancers	Thymus	Thymus
29	chr10:6426600-6427800	Weak transcription	Brain Substantia Nigra	brain
30	chr10:6426600-6428400	Enhancers	HSMMtube	muscle
31	chr10:6426800-6427200	Enhancers	Fetal Muscle Trunk	muscle
32	chr10:6427000-6427200	Bivalent Enhancer	Fetal Stomach	stomach
33	chr10:6427000-6427400	Weak transcription	Thymus	Thymus
34	chr10:6427000-6427600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr10:6427000-6427600	Enhancers	Colonic Mucosa	Colon
36	chr10:6427000-6427800	Enhancers	Lung	lung
37	chr10:6427000-6428200	Enhancers	Brain Cingulate Gyrus	brain
38	chr10:6427000-6428400	Enhancers	HSMM	muscle
39	chr10:6427200-6427400	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr10:6427200-6427400	Enhancers	Spleen	Spleen
41	chr10:6427200-6427400	Enhancers	NHDF-Ad	bronchial
42	chr10:6427200-6428200	Enhancers	Muscle Satellite Cultured Cells	--
43	chr10:6427200-6428800	Enhancers	Placenta	Placenta
44	chr10:6427400-6427600	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr10:6427400-6427600	Enhancers	Gastric	stomach
46	chr10:6427400-6427600	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr10:6427400-6427600	Enhancers	Thymus	Thymus
48	chr10:6427400-6427800	Weak transcription	NHDF-Ad	bronchial
49	chr10:6427400-6428000	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr10:6427400-6428600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links