Variant report

Variant	nsv891385
Chromosome Location	chr8:115477600-115562322
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:115558949..115561292-chr8:115562561..115565176,2	MCF-7	breast:
2	chr17:57969212..57972136-chr8:115525975..115527526,2	MCF-7	breast:
3	chr8:115541858..115544753-chr8:115552271..115555255,2	K562	blood:
4	chr8:115501581..115504455-chr8:115510401..115513186,2	MCF-7	breast:
5	chr8:115499449..115502165-chr8:115506498..115508368,2	K562	blood:
6	chr8:115541858..115544753-chr8:115552271..115555255,2	K562	blood:
7	chr8:115468981..115471423-chr8:115486430..115487982,2	MCF-7	breast:
8	chr8:115561374..115563425-chr8:115568053..115569628,2	MCF-7	breast:
9	chr5:162988387..162989071-chr8:115522859..115523605,2	HCT-116	colon:
10	chr8:115499449..115502165-chr8:115506498..115508368,2	K562	blood:
11	chr8:115501581..115504455-chr8:115510401..115513186,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000108443	chromatin interactions
ENSG00000108423	chromatin interactions

Extended variants
information (count: 1025 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:1025 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3034433	chr8:115484205-115484206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs559597807	chr8:115484260-115484261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs182316781	chr8:115484264-115484265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs571607718	chr8:115484298-115484299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs13266978	chr8:115484332-115484333	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs13265415	chr8:115484338-115484339	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs545053208	chr8:115484349-115484350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs73348495	chr8:115484396-115484397	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs576510747	chr8:115484447-115484448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs369831928	chr8:115484452-115484453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs373564436	chr8:115484525-115484526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs527646216	chr8:115484549-115484550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs553822710	chr8:115488459-115488460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs566636971	chr8:115488476-115488477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs372326687	chr8:115488671-115488672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs541376701	chr8:115488678-115488679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs140471645	chr8:115488686-115488687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs555718215	chr8:115488702-115488703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs574040271	chr8:115488762-115488763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs192372343	chr8:115492203-115492204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs373576305	chr8:115492281-115492282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs534975426	chr8:115492298-115492299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs183881887	chr8:115492364-115492365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs188853740	chr8:115492398-115492399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs377503410	chr8:115492455-115492456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs536264131	chr8:115492570-115492571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs371069733	chr8:115492582-115492583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs4354332	chr8:115492603-115492604	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs193036302	chr8:115492612-115492613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs145944701	chr8:115492613-115492614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs572835511	chr8:115492626-115492627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs184661553	chr8:115492651-115492652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs556406222	chr8:115492671-115492672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs564896037	chr8:115492720-115492721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs555196037	chr8:115492766-115492767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs576987388	chr8:115492828-115492829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs540879049	chr8:115492842-115492843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs12681677	chr8:115492864-115492865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs571530396	chr8:115492874-115492875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs139851085	chr8:115492875-115492876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs548227275	chr8:115492903-115492904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs368286276	chr8:115492977-115492978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs563423706	chr8:115492988-115492989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs530944635	chr8:115492999-115493000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs552658555	chr8:115493028-115493029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs536977116	chr8:115493043-115493044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs143272808	chr8:115493044-115493045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs368318711	chr8:115493065-115493066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs142018481	chr8:115493067-115493068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs199832889	chr8:115493068-115493069	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:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:115484200-115484600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr8:115488400-115488800	Enhancers	Fetal Lung	lung
3	chr8:115492200-115494400	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr8:115492600-115494400	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr8:115492600-115494400	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr8:115492600-115494600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr8:115492600-115494600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr8:115492800-115494000	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr8:115492800-115494400	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr8:115493200-115494400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chr8:115493200-115494400	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr8:115493200-115494600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:115493400-115494200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr8:115493400-115494400	Enhancers	Brain Hippocampus Middle	brain
15	chr8:115493400-115494400	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr8:115493400-115494400	Enhancers	Brain Substantia Nigra	brain
17	chr8:115493600-115494200	Active TSS	Brain Anterior Caudate	brain
18	chr8:115493600-115494400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr8:115493600-115494400	Enhancers	Brain Cingulate Gyrus	brain
20	chr8:115493800-115494200	Enhancers	H1 Cell Line	embryonic stem cell
21	chr8:115493800-115494200	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr8:115494000-115494400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr8:115494200-115494400	Enhancers	Brain Anterior Caudate	brain
24	chr8:115494400-115496000	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr8:115496000-115496200	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr8:115504800-115505200	Enhancers	Brain Substantia Nigra	brain
27	chr8:115504800-115505600	Enhancers	Brain Hippocampus Middle	brain
28	chr8:115504800-115507000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr8:115505200-115505600	Active TSS	Brain Angular Gyrus	brain
30	chr8:115505200-115505600	Flanking Active TSS	Brain Substantia Nigra	brain
31	chr8:115505400-115506000	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr8:115505600-115506000	Enhancers	Brain Angular Gyrus	brain
33	chr8:115505600-115506000	Enhancers	Brain Substantia Nigra	brain
34	chr8:115507000-115508200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr8:115507200-115507800	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr8:115507400-115507800	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr8:115507400-115507800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr8:115508400-115508600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr8:115515600-115516800	Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr8:115515800-115516600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
41	chr8:115515800-115516800	Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr8:115515800-115516800	Active TSS	HUES48 Cell Line	embryonic stem cell
43	chr8:115515800-115516800	Active TSS	HUES64 Cell Line	embryonic stem cell
44	chr8:115516000-115516800	Active TSS	iPS-15b Cell Line	embryonic stem cell
45	chr8:115516000-115516800	Active TSS	Hela-S3	cervix
46	chr8:115516200-115516400	Active TSS	H1 Cell Line	embryonic stem cell
47	chr8:115516200-115516600	Active TSS	iPS-18 Cell Line	embryonic stem cell
48	chr8:115516200-115516600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr8:115516200-115516600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr8:115516200-115516800	Active TSS	H9 Cell Line	embryonic stem cell

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