Variant report

Variant	nsv891382
Chromosome Location	chr8:115447503-115526520
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr8:115501581..115504455-chr8:115510401..115513186,2	MCF-7	breast:
2	chr8:115499449..115502165-chr8:115506498..115508368,2	K562	blood:
3	chr8:115501581..115504455-chr8:115510401..115513186,2	MCF-7	breast:
4	chr8:115468981..115471423-chr8:115486430..115487982,2	MCF-7	breast:
5	chr17:57969212..57972136-chr8:115525975..115527526,2	MCF-7	breast:
6	chr5:162988387..162989071-chr8:115522859..115523605,2	HCT-116	colon:
7	chr8:115466661..115467320-chr8:115801108..115801704,2	MCF-7	breast:
8	chr8:115499449..115502165-chr8:115506498..115508368,2	K562	blood:
9	chr8:115468981..115471423-chr8:115486430..115487982,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000108423	chromatin interactions
ENSG00000108443	chromatin interactions

Extended variants
information (count: 1214 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:1214 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs290631	chr8:115447503-115447504	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs143273780	chr8:115447513-115447514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs16885850	chr8:115447528-115447529	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs574424104	chr8:115447537-115447538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs192449420	chr8:115447553-115447554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs371794176	chr8:115447626-115447627	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs78661511	chr8:115447653-115447654	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10106068	chr8:115447668-115447669	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
9	rs147546063	chr8:115447683-115447684	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183343317	chr8:115447691-115447692	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs576695382	chr8:115447707-115447708	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541900864	chr8:115447747-115447748	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs544883052	chr8:115447774-115447775	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562515121	chr8:115447783-115447784	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559921081	chr8:115447816-115447817	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557071338	chr8:115447856-115447857	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs139030466	chr8:115447888-115447889	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112483051	chr8:115447960-115447961	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532819927	chr8:115447966-115447967	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562941989	chr8:115448041-115448042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs149885324	chr8:115448070-115448071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs559898516	chr8:115448073-115448074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs111735707	chr8:115448075-115448076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs560186637	chr8:115448095-115448096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs527508959	chr8:115448225-115448226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs190857	chr8:115448234-115448235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs72686139	chr8:115448398-115448399	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs144937992	chr8:115448406-115448407	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs188847706	chr8:115448436-115448437	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs117570267	chr8:115448459-115448460	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs191145727	chr8:115448484-115448485	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs182401761	chr8:115448489-115448490	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs531485047	chr8:115448505-115448506	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs187035063	chr8:115448508-115448509	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs536418116	chr8:115448541-115448542	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs555160606	chr8:115448553-115448554	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs551442860	chr8:115448564-115448565	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs72686140	chr8:115448580-115448581	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs191177209	chr8:115448623-115448624	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs16885852	chr8:115448730-115448731	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs550004953	chr8:115448752-115448753	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs544680114	chr8:115448779-115448780	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs148631159	chr8:115448797-115448798	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs143274741	chr8:115448837-115448838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs542415058	chr8:115448854-115448855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs74722531	chr8:115448872-115448873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs531503411	chr8:115448924-115448925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs533881926	chr8:115448950-115448951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs182260020	chr8:115448952-115448953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs565262525	chr8:115448996-115448997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21364760	CNVD
Neuroticism	17667963	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Schizophrenia	20967226	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:133 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:115446800-115447600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr8:115447600-115448000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr8:115447600-115449000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:115448000-115449000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr8:115448000-115461800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr8:115448400-115448800	Active TSS	GM12878-XiMat	blood
7	chr8:115448800-115450600	Weak transcription	GM12878-XiMat	blood
8	chr8:115450600-115451000	Enhancers	GM12878-XiMat	blood
9	chr8:115454600-115455200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr8:115457000-115458200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr8:115458200-115458800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:115458800-115461800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr8:115461400-115461800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr8:115461400-115462000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr8:115461600-115462400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr8:115461800-115462200	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr8:115461800-115462600	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr8:115461800-115462600	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr8:115461800-115462600	Enhancers	Brain Germinal Matrix	brain
20	chr8:115461800-115462800	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr8:115461800-115463000	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr8:115461800-115463000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr8:115461800-115464000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr8:115462000-115465000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr8:115462200-115462400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr8:115462200-115462600	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr8:115462600-115462800	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr8:115462600-115465000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr8:115462600-115465000	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr8:115462800-115464800	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr8:115462800-115465200	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr8:115463000-115464600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr8:115463000-115466000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr8:115464000-115464400	Enhancers	Hela-S3	cervix
35	chr8:115464000-115465800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr8:115464600-115466800	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr8:115464800-115466800	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr8:115465000-115465200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr8:115465000-115465400	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr8:115465000-115466400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr8:115465000-115466600	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr8:115465200-115465800	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr8:115465200-115466600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
44	chr8:115465200-115466600	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr8:115465400-115465600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
46	chr8:115465400-115466800	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr8:115465600-115465800	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr8:115465600-115466600	Enhancers	H1 Cell Line	embryonic stem cell
49	chr8:115465800-115466000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr8:115465800-115466000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell

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