Variant report

Variant	nsv971343
Chromosome Location	chr8:102571397-102574555
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:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:81656858..81657712-chr8:102572368..102573072,2	MCF-7	breast:
2	chr8:102570444..102572768-chr8:102615878..102617763,2	MCF-7	breast:
3	chr8:102569193..102571476-chr8:103666400..103668320,2	MCF-7	breast:
4	chr8:102569718..102571436-chr8:102646624..102648953,2	MCF-7	breast:
5	chr8:102503498..102505462-chr8:102571828..102573596,2	MCF-7	breast:
6	chr8:102570719..102573453-chr8:102576572..102578084,2	MCF-7	breast:
7	chr8:102568954..102571543-chr8:102577396..102579070,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NCALD-2	chr8:102574236-102574716	NONHSAT128064

No data

Variant related genes	Relation type
ENSG00000083307	chromatin interactions
ENSG00000155090	chromatin interactions
ENSG00000254024	chromatin interactions

Extended variants
information (count: 124 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:124 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76691538	chr8:102571462-102571463	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs557021626	chr8:102571467-102571468	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs533872135	chr8:102571475-102571476	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs543108299	chr8:102571486-102571487	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs547550627	chr8:102571497-102571498	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs1723751	chr8:102571512-102571513	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs540565693	chr8:102571552-102571553	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs78201086	chr8:102571555-102571556	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs143975069	chr8:102571557-102571558	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs532737331	chr8:102571578-102571579	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs144351939	chr8:102571580-102571581	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs78554290	chr8:102571583-102571584	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs184899119	chr8:102571617-102571618	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs563096835	chr8:102571622-102571623	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530574894	chr8:102571664-102571665	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549072247	chr8:102571671-102571672	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs567142413	chr8:102571675-102571676	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs111677237	chr8:102571718-102571719	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs2507796	chr8:102571734-102571735	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs188773248	chr8:102571745-102571746	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538563737	chr8:102571748-102571749	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556711153	chr8:102571790-102571791	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs62519113	chr8:102571798-102571799	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568718843	chr8:102571831-102571832	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs2509767	chr8:102571852-102571853	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs555089194	chr8:102571895-102571896	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs181146779	chr8:102571922-102571923	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs540656333	chr8:102571965-102571966	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs559007022	chr8:102571975-102571976	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs370328277	chr8:102571985-102571986	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs374082483	chr8:102571987-102571988	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs577583795	chr8:102572033-102572034	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs573188566	chr8:102572046-102572047	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs373824164	chr8:102572077-102572078	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs75870859	chr8:102572097-102572098	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs530359550	chr8:102572112-102572113	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs150813143	chr8:102572211-102572212	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs561069631	chr8:102572274-102572275	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs546229124	chr8:102572346-102572347	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs186138950	chr8:102572368-102572369	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs375795905	chr8:102572405-102572406	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs35280910	chr8:102572406-102572407	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs56761938	chr8:102572428-102572429	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs61536913	chr8:102572430-102572431	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs546543042	chr8:102572499-102572500	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs372101064	chr8:102572500-102572501	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs190458997	chr8:102572509-102572510	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs111411171	chr8:102572517-102572518	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs568704837	chr8:102572546-102572547	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs112434015	chr8:102572575-102572576	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:113)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
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
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	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
Cancer	20164919	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
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
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16461302	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	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
small cell lung cancer	20016488	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
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	17260012	CNVD
Sezary syndrome	18413736	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Cancer	20164920	CNVD
Urothelial cell carcinoma	18451213	CNVD
Colorectal cancer	21645411	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	16912164	CNVD
Breast cancer	20409316	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	21611746	CNVD
Prostate cancer	22341455	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:102551400-102577400	Weak transcription	Fetal Stomach	stomach
2	chr8:102552200-102620600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:102553000-102573600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:102557400-102577400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr8:102565600-102582800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr8:102566000-102582800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr8:102566200-102572600	Weak transcription	Fetal Intestine Large	intestine
8	chr8:102566600-102585600	Weak transcription	Pancreas	Pancrea
9	chr8:102567400-102575600	Weak transcription	HMEC	breast
10	chr8:102567800-102571800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr8:102569200-102582800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr8:102569600-102572600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:102569600-102574800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr8:102570000-102573000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr8:102570200-102572600	Strong transcription	Fetal Intestine Small	intestine
16	chr8:102570200-102573000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr8:102570400-102571400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr8:102570400-102572200	Strong transcription	H1 Cell Line	embryonic stem cell
19	chr8:102570400-102572400	Strong transcription	Placenta	Placenta
20	chr8:102570400-102573200	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr8:102570600-102572200	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr8:102570600-102573000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr8:102571000-102572000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr8:102571000-102574400	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr8:102571000-102583000	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr8:102571000-102589600	Weak transcription	Gastric	stomach
27	chr8:102571200-102572000	Weak transcription	Duodenum Mucosa	Duodenum
28	chr8:102571200-102572400	Weak transcription	Esophagus	oesophagus
29	chr8:102571200-102582200	Weak transcription	NHEK	skin
30	chr8:102571400-102572200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr8:102571800-102572400	Strong transcription	Placenta Amnion	Placenta Amnion
32	chr8:102572000-102572400	Strong transcription	Duodenum Mucosa	Duodenum
33	chr8:102572000-102573200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr8:102572200-102574200	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr8:102572200-102574600	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr8:102572200-102575200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr8:102572400-102572600	ZNF genes & repeats	Esophagus	oesophagus
38	chr8:102572400-102582600	Weak transcription	Duodenum Mucosa	Duodenum
39	chr8:102572400-102582600	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr8:102572400-102582800	Weak transcription	Placenta	Placenta
41	chr8:102572600-102573000	Strong transcription	Fetal Intestine Large	intestine
42	chr8:102572600-102581600	Weak transcription	Fetal Intestine Small	intestine
43	chr8:102572600-102583000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr8:102572600-102583000	Weak transcription	Esophagus	oesophagus
45	chr8:102573000-102575400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr8:102573000-102581400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr8:102573000-102582200	Weak transcription	Fetal Intestine Large	intestine
48	chr8:102573000-102582600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr8:102573200-102575000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr8:102573200-102582200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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