Variant report

Variant	esv275000
Chromosome Location	chr7:97885725-97887997
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:97887107-97887284	K562	blood:	n/a	n/a
2	POLR2A	chr7:97886042-97886053	HepG2	liver:	n/a	n/a
3	POLR2A	chr7:97887452-97887468	HepG2	liver:	n/a	n/a
4	STAT3	chr7:97887987-97888122	MCF10A-Er-Src	breast:	n/a	n/a
5	WRNIP1	chr7:97886243-97886269	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:97881770..97884305-chr7:97885648..97888001,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BRI3-2	chr7:97881470-97887682	NONHSAT122186

Variant related genes	Relation type
TECPR1	TF binding region

Extended variants
information (count: 102 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:102 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12536125	chr7:97885725-97885726	Weak transcription Enhancers Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs553708610	chr7:97885900-97885901	Weak transcription Genic enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs371689092	chr7:97885901-97885902	Weak transcription Genic enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs542697524	chr7:97885902-97885903	Weak transcription Genic enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs539741576	chr7:97885905-97885906	Weak transcription Genic enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs141086499	chr7:97885915-97885916	Weak transcription Genic enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs1062199	chr7:97885987-97885988	Weak transcription Genic enhancers Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs543175159	chr7:97886016-97886017	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs564755534	chr7:97886033-97886034	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs188314866	chr7:97886084-97886085	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs547407189	chr7:97886090-97886091	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs552252140	chr7:97886094-97886095	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs115552045	chr7:97886102-97886103	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs530083678	chr7:97886113-97886114	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs181082763	chr7:97886131-97886132	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs564973382	chr7:97886134-97886135	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs557966716	chr7:97886182-97886183	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs78288553	chr7:97886209-97886210	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
19	rs35126383	chr7:97886218-97886219	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
20	rs374324741	chr7:97886235-97886236	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
21	rs576211775	chr7:97886265-97886266	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
22	rs76189148	chr7:97886347-97886348	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
23	rs386716018	chr7:97886368-97886369	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
24	rs7801688	chr7:97886370-97886371	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs536494967	chr7:97886387-97886388	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
26	rs546905337	chr7:97886407-97886408	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs553430898	chr7:97886408-97886409	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs572005503	chr7:97886411-97886412	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs542214874	chr7:97886425-97886426	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs543535934	chr7:97886429-97886430	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs555461206	chr7:97886430-97886431	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs145280617	chr7:97886452-97886453	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs575699752	chr7:97886454-97886455	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs112475136	chr7:97886459-97886460	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs564721229	chr7:97886462-97886463	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs137865341	chr7:97886550-97886551	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs541312463	chr7:97886599-97886600	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs142479733	chr7:97886610-97886611	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs573765436	chr7:97886616-97886617	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs548254305	chr7:97886638-97886639	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs374578725	chr7:97886657-97886658	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs563692942	chr7:97886661-97886662	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs531005690	chr7:97886674-97886675	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs186517998	chr7:97886693-97886694	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs571048958	chr7:97886729-97886730	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs559443790	chr7:97886745-97886746	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs191342307	chr7:97886748-97886749	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs568621581	chr7:97886771-97886772	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs536164954	chr7:97886778-97886779	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs554116856	chr7:97886779-97886780	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
Metanephric adenoma	20802469	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myoclonus-dystonia	17898012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Cancer	20164920	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Chronic myeloid leukemia	21384125	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Bladder cancer	21909424	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:241 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:97882200-97885800	Weak transcription	Ovary	ovary
2	chr7:97882200-97886200	Weak transcription	Aorta	Aorta
3	chr7:97882200-97887800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr7:97882200-97889400	Weak transcription	Small Intestine	intestine
5	chr7:97882200-97893200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:97882400-97888600	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr7:97882400-97888600	Weak transcription	Fetal Lung	lung
8	chr7:97882400-97890800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr7:97882400-97894400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr7:97882400-97895200	Weak transcription	NHDF-Ad	bronchial
11	chr7:97882400-97895400	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr7:97882600-97885800	Weak transcription	Primary hematopoietic stem cells	blood
13	chr7:97882600-97886200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr7:97882600-97887600	Weak transcription	HMEC	breast
15	chr7:97882600-97888600	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr7:97882600-97889000	Weak transcription	Colon Smooth Muscle	Colon
17	chr7:97882600-97890000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:97882600-97890200	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr7:97882600-97892400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr7:97882600-97892800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr7:97882600-97893000	Weak transcription	Brain Germinal Matrix	brain
22	chr7:97882800-97885800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr7:97882800-97885800	Weak transcription	Fetal Brain Female	brain
24	chr7:97882800-97885800	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr7:97882800-97885800	Weak transcription	Stomach Smooth Muscle	stomach
26	chr7:97882800-97886200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr7:97882800-97886200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr7:97882800-97886200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr7:97882800-97886200	Weak transcription	Esophagus	oesophagus
30	chr7:97882800-97886200	Weak transcription	Fetal Stomach	stomach
31	chr7:97882800-97890000	Weak transcription	HSMMtube	muscle
32	chr7:97882800-97895000	Weak transcription	HUVEC	blood vessel
33	chr7:97882800-97895200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr7:97882800-97895200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr7:97882800-97895200	Weak transcription	NH-A	brain
36	chr7:97882800-97895200	Weak transcription	NHLF	lung
37	chr7:97883000-97885800	Weak transcription	Primary B cells from peripheral blood	blood
38	chr7:97883000-97885800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr7:97883000-97885800	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr7:97883000-97885800	Weak transcription	Liver	Liver
41	chr7:97883000-97885800	Weak transcription	Brain Cingulate Gyrus	brain
42	chr7:97883000-97885800	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr7:97883000-97885800	Weak transcription	Placenta	Placenta
44	chr7:97883000-97885800	Weak transcription	Fetal Thymus	thymus
45	chr7:97883000-97885800	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr7:97883000-97885800	Weak transcription	Thymus	Thymus
47	chr7:97883000-97885800	Weak transcription	HSMM	muscle
48	chr7:97883000-97885800	Weak transcription	Osteobl	bone
49	chr7:97883000-97886000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr7:97883000-97886000	Weak transcription	Fetal Intestine Small	intestine

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