Variant report

Variant	esv1802647
Chromosome Location	chr7:27658495-27673924
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:27668160..27670019-chr7:27701682..27704440,2	K562	blood:
2	chr7:27667898..27670542-chr7:27670905..27674481,3	MCF-7	breast:
3	chr7:27668160..27670607-chr7:27701639..27704440,2	K562	blood:
4	chr7:27671208..27672985-chr7:27680349..27682159,2	K562	blood:
5	chr7:27667898..27670542-chr7:27670905..27674481,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TAX1BP1-1	chr7:27666842-27667109	ENSG00000233400

Variant related genes	Relation type
ENSG00000106049	chromatin interactions

Extended variants
information (count: 603 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:603 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571085723	chr7:27658502-27658503	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs558984111	chr7:27658517-27658518	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs371132132	chr7:27658557-27658558	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs374551297	chr7:27658559-27658560	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs116740994	chr7:27658577-27658578	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535926421	chr7:27658582-27658583	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs73684007	chr7:27658622-27658623	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs572695283	chr7:27658637-27658638	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539990293	chr7:27658639-27658640	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs79205714	chr7:27658664-27658665	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187543750	chr7:27658680-27658681	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532920656	chr7:27658704-27658705	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs146798586	chr7:27658728-27658729	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541586744	chr7:27658738-27658739	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530081664	chr7:27658762-27658763	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs141108715	chr7:27658768-27658769	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12164139	chr7:27658801-27658802	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs527796877	chr7:27658819-27658820	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190503639	chr7:27658823-27658824	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570978469	chr7:27658839-27658840	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372433701	chr7:27658860-27658861	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs115310872	chr7:27658876-27658877	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550240949	chr7:27658885-27658886	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550202506	chr7:27658891-27658892	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs568824190	chr7:27658940-27658941	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs150173874	chr7:27658960-27658961	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs75229331	chr7:27658985-27658986	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs572560144	chr7:27659047-27659048	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs374556147	chr7:27659083-27659084	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533666680	chr7:27659087-27659088	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558698326	chr7:27659146-27659147	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576999839	chr7:27659194-27659195	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12700823	chr7:27659221-27659222	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs368510276	chr7:27659228-27659229	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112510647	chr7:27659252-27659253	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574788723	chr7:27659253-27659254	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542205483	chr7:27659263-27659264	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs142332328	chr7:27659271-27659272	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs377270879	chr7:27659278-27659279	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs183472800	chr7:27659336-27659337	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187813725	chr7:27659351-27659352	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368701975	chr7:27659358-27659359	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs552731983	chr7:27659368-27659369	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs564685996	chr7:27659391-27659392	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs138579393	chr7:27659455-27659456	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550443622	chr7:27659463-27659464	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs148880639	chr7:27659471-27659472	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs529548859	chr7:27659553-27659554	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192787704	chr7:27659566-27659567	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184319635	chr7:27659575-27659576	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Lung adenocarcinoma	17086460	CNVD
Colorectal cancer	19455253	CNVD
Lung cancer	17086460	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	17440070	CNVD

Chromatin state (count:378 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27646800-27658800	Weak transcription	Osteobl	bone
2	chr7:27646800-27659600	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr7:27647000-27660200	Weak transcription	Small Intestine	intestine
4	chr7:27648600-27659800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr7:27649200-27659400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr7:27651200-27658600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr7:27651600-27659200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr7:27651800-27674200	Weak transcription	Hela-S3	cervix
9	chr7:27652400-27658600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr7:27652400-27658600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr7:27653200-27659400	Weak transcription	Brain Hippocampus Middle	brain
12	chr7:27654400-27658600	Weak transcription	Brain Substantia Nigra	brain
13	chr7:27654400-27658600	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr7:27654400-27696400	Weak transcription	Gastric	stomach
15	chr7:27655200-27660400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr7:27655400-27665200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr7:27655600-27658800	Strong transcription	Primary T cells from cord blood	blood
18	chr7:27655600-27658800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
19	chr7:27655600-27658800	ZNF genes & repeats	Fetal Muscle Leg	muscle
20	chr7:27655600-27659200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr7:27655600-27660600	ZNF genes & repeats	Fetal Intestine Small	intestine
22	chr7:27655800-27658800	Strong transcription	Ovary	ovary
23	chr7:27656200-27658600	Weak transcription	Pancreas	Pancrea
24	chr7:27656200-27658600	Weak transcription	Psoas Muscle	Psoas
25	chr7:27656200-27658600	Weak transcription	Thymus	Thymus
26	chr7:27656400-27658600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:27656400-27659600	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr7:27656400-27659600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr7:27657000-27658800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr7:27657000-27660200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
31	chr7:27657000-27660400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr7:27657200-27658800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
33	chr7:27657200-27658800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr7:27657200-27662200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr7:27657400-27658600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr7:27657400-27658800	ZNF genes & repeats	Fetal Stomach	stomach
37	chr7:27657400-27659000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr7:27657400-27661800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr7:27657400-27661800	ZNF genes & repeats	Fetal Intestine Large	intestine
40	chr7:27657400-27662600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
41	chr7:27657800-27658800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr7:27657800-27658800	ZNF genes & repeats	HSMM	muscle
43	chr7:27657800-27659000	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
44	chr7:27657800-27660000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr7:27657800-27660000	ZNF genes & repeats	Fetal Muscle Trunk	muscle
46	chr7:27657800-27660200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr7:27658000-27658800	ZNF genes & repeats	Placenta	Placenta
48	chr7:27658000-27659800	ZNF genes & repeats	NHDF-Ad	bronchial
49	chr7:27658000-27661400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
50	chr7:27658200-27659000	ZNF genes & repeats	Brain Anterior Caudate	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links