Variant report

Variant	nsv970932
Chromosome Location	chr7:112756235-112757962
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	chr7:112089330..112091829-chr7:112756736..112758677,2	K562	blood:
2	chr7:112716768..112718529-chr7:112755627..112758248,2	K562	blood:
3	chr7:112748491..112751404-chr7:112754696..112757418,3	MCF-7	breast:
4	chr7:112747364..112749497-chr7:112755148..112758022,3	K562	blood:
5	chr7:112756695..112758581-chr7:112781055..112783118,2	K562	blood:
6	chr7:112748064..112750116-chr7:112756047..112758575,2	MCF-7	breast:
7	chr7:112738100..112740968-chr7:112754708..112756383,2	K562	blood:
8	chr7:112725230..112728019-chr7:112757874..112760567,2	K562	blood:
9	chr7:112753755..112755851-chr7:112756779..112758396,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000006652	chromatin interactions
ENSG00000225457	chromatin interactions
ENSG00000164604	chromatin interactions

Extended variants
information (count: 45 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17160226	chr7:112756267-112756268	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs140849289	chr7:112756289-112756290	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs565650236	chr7:112756291-112756292	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs6967560	chr7:112756316-112756317	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs539098336	chr7:112756317-112756318	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs6950009	chr7:112756392-112756393	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs551425502	chr7:112756422-112756423	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs569792483	chr7:112756430-112756431	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs545491342	chr7:112756431-112756432	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs547325279	chr7:112756561-112756562	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs555985660	chr7:112756581-112756582	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs554743591	chr7:112756651-112756652	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs375816900	chr7:112756718-112756719	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs574329564	chr7:112756847-112756848	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs535303948	chr7:112756874-112756875	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs151051364	chr7:112756893-112756894	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs60898382	chr7:112756902-112756903	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs553422829	chr7:112756945-112756946	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs1051997	chr7:112756994-112756995	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs551283449	chr7:112757035-112757036	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs563395665	chr7:112757066-112757067	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs142260327	chr7:112757203-112757204	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs115770585	chr7:112757318-112757319	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs561542686	chr7:112757326-112757327	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs529106642	chr7:112757337-112757338	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs547656132	chr7:112757348-112757349	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs559405135	chr7:112757351-112757352	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs567989901	chr7:112757371-112757372	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs532915816	chr7:112757373-112757374	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs1051878	chr7:112757387-112757388	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs11557459	chr7:112757505-112757506	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs201016385	chr7:112757601-112757602	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs569706459	chr7:112757606-112757607	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs181224974	chr7:112757646-112757647	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs151259891	chr7:112757677-112757678	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs567843361	chr7:112757683-112757684	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs140877207	chr7:112757740-112757741	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs2272260	chr7:112757862-112757863	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs571850236	chr7:112757895-112757896	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs538983220	chr7:112757923-112757924	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs150155997	chr7:112757931-112757932	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs2272261	chr7:112757945-112757946	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs200615928	chr7:112757960-112757961	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs147623501	chr7:112757961-112757962	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs373228509	chr7:112757962-112757963	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	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
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Myelofibrosis	22110671	CNVD
Squamous cell cancer	20885788	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16397240	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Autism	19401682	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	21248843	CNVD

Chromatin state (count:302 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112740600-112757600	Weak transcription	Right Atrium	heart
2	chr7:112740600-112758000	Weak transcription	Aorta	Aorta
3	chr7:112741000-112757600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr7:112743000-112757800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:112748800-112757600	Weak transcription	Colon Smooth Muscle	Colon
6	chr7:112748800-112757600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr7:112749000-112757400	Weak transcription	Left Ventricle	heart
8	chr7:112749200-112757400	Weak transcription	Psoas Muscle	Psoas
9	chr7:112749200-112757800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr7:112749600-112757400	Weak transcription	HMEC	breast
11	chr7:112749800-112757600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr7:112750000-112757400	Weak transcription	NHEK	skin
13	chr7:112750200-112757400	Weak transcription	NHLF	lung
14	chr7:112750400-112757200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr7:112750400-112757800	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr7:112750600-112757400	Weak transcription	Osteobl	bone
17	chr7:112750800-112757800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr7:112750800-112757800	Weak transcription	Fetal Stomach	stomach
19	chr7:112751000-112757400	Weak transcription	HUVEC	blood vessel
20	chr7:112751000-112757400	Weak transcription	NHDF-Ad	bronchial
21	chr7:112751000-112758200	Weak transcription	Lung	lung
22	chr7:112751200-112757800	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr7:112751200-112758200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr7:112751400-112757400	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr7:112751400-112757600	Weak transcription	Primary T cells from cord blood	blood
26	chr7:112751600-112757400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:112751600-112757400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr7:112751600-112757600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr7:112751800-112757200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr7:112751800-112757400	Weak transcription	Brain Anterior Caudate	brain
31	chr7:112751800-112757400	Weak transcription	HSMMtube	muscle
32	chr7:112751800-112757800	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr7:112751800-112757800	Weak transcription	Small Intestine	intestine
34	chr7:112752400-112757400	Weak transcription	Fetal Intestine Small	intestine
35	chr7:112752400-112757600	Weak transcription	Fetal Kidney	kidney
36	chr7:112752600-112757600	Weak transcription	Primary B cells from cord blood	blood
37	chr7:112752600-112757600	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr7:112752600-112757800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr7:112752600-112757800	Weak transcription	Brain Cingulate Gyrus	brain
40	chr7:112752600-112758600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr7:112752800-112756400	Strong transcription	HSMM	muscle
42	chr7:112752800-112757800	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr7:112753000-112756800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr7:112753000-112757800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr7:112753200-112756600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr7:112753200-112757200	Strong transcription	K562	blood
47	chr7:112753200-112757800	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr7:112753400-112756600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr7:112753600-112756400	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr7:112753800-112757600	Weak transcription	Brain Germinal Matrix	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links