Variant report

Variant	nsv979882
Chromosome Location	chr3:137820527-137822317
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:158)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:158 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr3:137820500-137820650	NHEK	skin:	n/a	n/a
2	CTCF	chr3:137820525-137820659	IMR90	lung:	n/a	n/a
3	CTCF	chr3:137820580-137820730	GM06990	blood:	n/a	n/a
4	CTCF	chr3:137820474-137820743	Gliobla	brain:	n/a	n/a
5	CTCF	chr3:137820540-137820690	GM06990	blood:	n/a	n/a
6	CTCF	chr3:137820520-137820670	HCFaa	heart:	n/a	n/a
7	CTCF	chr3:137820500-137820650	GM12866	blood:	n/a	n/a
8	CTCF	chr3:137820540-137820690	HFF	foreskin:	n/a	n/a
9	CTCF	chr3:137820520-137820718	GM19238	blood:	n/a	n/a
10	CTCF	chr3:137820928-137820992	MCF-7	breast:	n/a	n/a
11	CTCF	chr3:137820540-137820690	BE2_C	brain:	n/a	n/a
12	CTCF	chr3:137820500-137820650	GM12874	blood:	n/a	n/a
13	CTCF	chr3:137820640-137820790	HMEC	breast:	n/a	n/a
14	CTCF	chr3:137820500-137820650	RPTEC	kidney:	n/a	n/a
15	CTCF	chr3:137820520-137820670	AG10803	skin:	n/a	n/a
16	CTCF	chr3:137820509-137820715	GM19240	blood:	n/a	n/a
17	CTCF	chr3:137820540-137820690	GM12872	blood:	n/a	n/a
18	CTCF	chr3:137820520-137820670	Caco-2	colon:	n/a	n/a
19	CTCF	chr3:137820500-137820650	GM12873	blood:	n/a	n/a
20	CTCF	chr3:137820540-137820690	AG04449	skin:	n/a	n/a
21	CTCF	chr3:137820480-137820630	GM12868	blood:	n/a	n/a
22	CTCF	chr3:137820520-137820670	HFF-Myc	foreskin:	n/a	n/a
23	CTCF	chr3:137820500-137820650	HVMF	connective:	n/a	n/a
24	CTCF	chr3:137820540-137820690	BJ	skin:	n/a	n/a
25	CTCF	chr3:137820500-137820650	GM12878	blood:	n/a	n/a
26	CTCF	chr3:137820520-137820670	BE2_C	brain:	n/a	n/a
27	CTCF	chr3:137820540-137820690	HUVEC	blood vessel:	n/a	n/a
28	CTCF	chr3:137820520-137820670	HRE	kidney:	n/a	n/a
29	CTCF	chr3:137820560-137820710	NHLF	lung:	n/a	n/a
30	CTCF	chr3:137820480-137820666	A549	lung:	n/a	n/a
31	CTCF	chr3:137820507-137820749	K562	blood:	n/a	n/a
32	CTCF	chr3:137820520-137820670	Hela-S3	cervix:	n/a	n/a
33	CTCF	chr3:137820560-137820710	HEK293	kidney:	n/a	n/a
34	CTCF	chr3:137820500-137820650	HepG2	liver:	n/a	n/a
35	CTCF	chr3:137820520-137820670	HPF	lung:	n/a	n/a
36	CTCF	chr3:137820428-137820797	K562	blood:	n/a	n/a
37	CTCF	chr3:137820560-137820710	AG09319	gingival:	n/a	n/a
38	CTCF	chr3:137820520-137820670	AG04449	skin:	n/a	n/a
39	CTCF	chr3:137820520-137820670	HCPEpiC	choroid plexus:	n/a	n/a
40	CTCF	chr3:137820516-137820712	GM12878	blood:	n/a	n/a
41	CTCF	chr3:137820500-137820650	HCM	heart:	n/a	n/a
42	CTCF	chr3:137820502-137820782	MCF-7	breast:	n/a	n/a
43	CTCF	chr3:137820500-137820650	GM12875	blood:	n/a	n/a
44	CTCF	chr3:137820500-137820650	AG09309	skin:	n/a	n/a
45	CTCF	chr3:137820469-137820796	MCF-7	breast:	n/a	n/a
46	CTCF	chr3:137820640-137820850	A549	lung:	n/a	n/a
47	CTCF	chr3:137820540-137820690	Hela-S3	cervix:	n/a	n/a
48	CTCF	chr3:137820520-137820670	HAc	cerebellar:	n/a	n/a
49	CTCF	chr3:137820388-137820803	K562	blood:	n/a	n/a
50	CTCF	chr3:137820499-137820745	K562	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:137818522..137821456-chr3:137833912..137835842,2	K562	blood:
2	chr3:137820273..137821044-chr3:137837392..137837964,2	MCF-7	breast:
3	chr3:137819951..137820556-chr3:137867215..137868064,2	MCF-7	breast:

No data

Variant related genes	Relation type
KRT8P36	TF binding region
ENSG00000158163	chromatin interactions

Extended variants
information (count: 76 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190862187	chr3:137820540-137820541	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs573775453	chr3:137820572-137820573	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs539665076	chr3:137820573-137820574	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs553115132	chr3:137820611-137820612	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs542649580	chr3:137820656-137820657	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs370723936	chr3:137820691-137820692	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs375318833	chr3:137820698-137820699	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs368397172	chr3:137820700-137820701	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs112325223	chr3:137820753-137820754	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs545383542	chr3:137820754-137820755	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs565561358	chr3:137820769-137820770	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs372001442	chr3:137820827-137820828	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs329382	chr3:137820942-137820943	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs541614628	chr3:137820979-137820980	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs560997711	chr3:137820986-137820987	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs183415132	chr3:137820998-137820999	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs549871969	chr3:137821029-137821030	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs569554174	chr3:137821030-137821031	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs555388920	chr3:137821056-137821057	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs532091788	chr3:137821072-137821073	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs190027384	chr3:137821078-137821079	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs565961604	chr3:137821094-137821095	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs141732150	chr3:137821102-137821103	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs554329016	chr3:137821110-137821111	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs567882356	chr3:137821152-137821153	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs536371015	chr3:137821168-137821169	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs113037626	chr3:137821215-137821216	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs576370742	chr3:137821229-137821230	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs539018004	chr3:137821360-137821361	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs329381	chr3:137821368-137821369	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs572682118	chr3:137821370-137821371	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs541709085	chr3:137821395-137821396	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs564403227	chr3:137821451-137821452	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs375408390	chr3:137821512-137821513	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs543552063	chr3:137821519-137821520	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs563388156	chr3:137821542-137821543	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs112260596	chr3:137821605-137821606	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs552129549	chr3:137821606-137821607	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs544876470	chr3:137821607-137821608	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs185004217	chr3:137821620-137821621	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs578026332	chr3:137821621-137821622	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs112691881	chr3:137821654-137821655	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs191105573	chr3:137821671-137821672	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs11916515	chr3:137821713-137821714	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs536811841	chr3:137821741-137821742	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs549906925	chr3:137821785-137821786	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs570110004	chr3:137821788-137821789	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs538690796	chr3:137821790-137821791	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs558924394	chr3:137821894-137821895	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs572321805	chr3:137821899-137821900	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
microdeletion syndrome	22180640	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Intracranial aneurysm	16715129	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Developmental delay	21147756	CNVD
lymphocytic leukemia	21291569	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
abnormal development	18461090	CNVD

Chromatin state (count:134 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:137781000-137833200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr3:137783200-137821200	Weak transcription	Colonic Mucosa	Colon
3	chr3:137792000-137820600	Weak transcription	Esophagus	oesophagus
4	chr3:137801600-137820600	Weak transcription	Spleen	Spleen
5	chr3:137801600-137833200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr3:137802400-137823200	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr3:137802600-137822200	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr3:137803200-137833200	Weak transcription	Placenta	Placenta
9	chr3:137803400-137822400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr3:137805200-137823400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr3:137805200-137823400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr3:137805600-137829800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr3:137805800-137820600	Weak transcription	Fetal Intestine Small	intestine
14	chr3:137805800-137822000	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr3:137807000-137821600	Weak transcription	Brain Anterior Caudate	brain
16	chr3:137807000-137822200	Weak transcription	Brain Hippocampus Middle	brain
17	chr3:137807400-137820600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr3:137807400-137820600	Weak transcription	Right Ventricle	heart
19	chr3:137807600-137822000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr3:137808000-137821200	Weak transcription	HSMMtube	muscle
21	chr3:137808800-137830800	Weak transcription	NHEK	skin
22	chr3:137811800-137833400	Weak transcription	Fetal Brain Male	brain
23	chr3:137812600-137821600	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr3:137812600-137833200	Weak transcription	Brain Angular Gyrus	brain
25	chr3:137812800-137831400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr3:137812800-137832000	Weak transcription	Brain Germinal Matrix	brain
27	chr3:137813600-137821200	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr3:137813600-137823600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr3:137813800-137820600	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr3:137813800-137821200	Weak transcription	Lung	lung
31	chr3:137813800-137823200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr3:137813800-137824000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr3:137813800-137833000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr3:137814000-137820600	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr3:137814000-137820600	Weak transcription	Fetal Brain Female	brain
36	chr3:137814000-137820800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr3:137814000-137822000	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr3:137814000-137822200	Weak transcription	Fetal Intestine Large	intestine
39	chr3:137814000-137831200	Weak transcription	Fetal Kidney	kidney
40	chr3:137814000-137832200	Weak transcription	Rectal Smooth Muscle	rectum
41	chr3:137814000-137833000	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr3:137814000-137833600	Weak transcription	Liver	Liver
43	chr3:137814200-137821800	Weak transcription	HMEC	breast
44	chr3:137814200-137822000	Weak transcription	A549	lung
45	chr3:137814200-137822200	Weak transcription	Left Ventricle	heart
46	chr3:137814200-137829400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr3:137814200-137832400	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr3:137814200-137833200	Weak transcription	HUVEC	blood vessel
49	chr3:137815800-137823600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr3:137816200-137823200	Strong transcription	Stomach Smooth Muscle	stomach

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