Variant report

Variant	nsv965214
Chromosome Location	chr3:136453872-136457900
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:25)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:25 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr3:136455270-136455293	ProgFib	skin:	n/a	n/a
2	EBF1	chr3:136454657-136454913	GM12878	blood:	n/a	n/a
3	EBF1	chr3:136454663-136454922	GM12878	blood:	n/a	n/a
4	GATA3	chr3:136457802-136457862	SH-SY5Y	brain:	n/a	n/a
5	MAFK	chr3:136455765-136455981	HepG2	liver:	n/a	n/a
6	MAFK	chr3:136455751-136455929	HepG2	liver:	n/a	n/a
7	MYC	chr3:136454732-136454871	MCF-7	breast:	n/a	n/a
8	POLR2A	chr3:136455236-136455636	K562	blood:	n/a	n/a
9	POLR2A	chr3:136454662-136454852	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr3:136454642-136454929	GM12878	blood:	n/a	n/a
11	POLR2A	chr3:136454301-136454903	HepG2	liver:	n/a	n/a
12	POLR2A	chr3:136454809-136454820	MCF-7	breast:	n/a	n/a
13	POLR2A	chr3:136454751-136454810	MCF-7	breast:	n/a	n/a
14	POLR2A	chr3:136454798-136454804	MCF-7	breast:	n/a	n/a
15	POLR2A	chr3:136454754-136454783	MCF-7	breast:	n/a	n/a
16	POLR2A	chr3:136454034-136454243	GM12878	blood:	n/a	n/a
17	POLR2A	chr3:136455164-136455545	GM12878	blood:	n/a	n/a
18	POLR2A	chr3:136453130-136453995	HepG2	liver:	n/a	n/a
19	POLR2A	chr3:136457355-136457502	ProgFib	skin:	n/a	n/a
20	POLR2A	chr3:136454786-136454792	MCF-7	breast:	n/a	n/a
21	POLR2A	chr3:136457053-136457220	ProgFib	skin:	n/a	n/a
22	SPI1	chr3:136455779-136456075	GM12891	blood:	n/a	n/a
23	SPI1	chr3:136455797-136456106	GM12891	blood:	n/a	n/a
24	STAT3	chr3:136457550-136457694	MCF10A-Er-Src	breast:	n/a	n/a
25	USF2	chr3:136454770-136454771	Hela-S3	cervix:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr3:136457793..136459867-chr3:136469350..136471388,2	MCF-7	breast:
2	chr3:136453394..136456450-chr3:136469548..136472199,3	K562	blood:
3	chr3:136457290..136459900-chr3:136462438..136464263,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MSL2-6	chr3:136455342-136456071	NONHSAT092281

No data

Variant related genes	Relation type
ENSG00000240695	TF binding region
ENSG00000118007	chromatin interactions
ENSG00000261758	chromatin interactions

Extended variants
information (count: 149 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:149 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536789079	chr3:136453882-136453883	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs189805332	chr3:136453884-136453885	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs576527621	chr3:136453904-136453905	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs201093463	chr3:136453966-136453967	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs183518819	chr3:136453973-136453974	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs533962688	chr3:136454154-136454155	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs114593616	chr3:136454159-136454160	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs138139659	chr3:136454183-136454184	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs540663188	chr3:136454215-136454216	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs560809044	chr3:136454260-136454261	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs568707978	chr3:136454278-136454279	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs80038866	chr3:136454299-136454300	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs117825541	chr3:136454314-136454315	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs142054445	chr3:136454350-136454351	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs563057293	chr3:136454358-136454359	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs532178266	chr3:136454371-136454372	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs199783452	chr3:136454498-136454499	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs552350373	chr3:136454512-136454513	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs565792145	chr3:136454539-136454540	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs534958232	chr3:136454548-136454549	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs547808533	chr3:136454580-136454581	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs112537839	chr3:136454602-136454603	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs555161119	chr3:136454634-136454635	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs556668893	chr3:136454748-136454749	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs557144994	chr3:136454773-136454774	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs538815819	chr3:136454775-136454776	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs559148933	chr3:136454814-136454815	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs375438408	chr3:136454835-136454836	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs549334856	chr3:136454840-136454841	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs61790837	chr3:136454859-136454860	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs193224126	chr3:136454873-136454874	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs111547669	chr3:136454880-136454881	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs574059191	chr3:136454943-136454944	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs543034202	chr3:136454953-136454954	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs34613715	chr3:136455007-136455008	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs532217096	chr3:136455015-136455016	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs56037743	chr3:136455040-136455041	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs145879576	chr3:136455055-136455056	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs373120957	chr3:136455122-136455123	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs138600749	chr3:136455136-136455137	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs559546767	chr3:136455157-136455158	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs528352349	chr3:136455195-136455196	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs571811323	chr3:136455203-136455204	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs548536548	chr3:136455248-136455249	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs568386874	chr3:136455255-136455256	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs536603747	chr3:136455258-136455259	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs550208132	chr3:136455281-136455282	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs570044245	chr3:136455328-136455329	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs188489177	chr3:136455385-136455386	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
50	rs558864989	chr3:136455424-136455425	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Myelofibrosis	22110671	CNVD
Schizophrenia	18511947	CNVD
Breast cancer	22522925	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:231 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:136431000-136454600	Weak transcription	Hela-S3	cervix
2	chr3:136432400-136468200	Weak transcription	Aorta	Aorta
3	chr3:136432600-136454000	Weak transcription	Fetal Muscle Leg	muscle
4	chr3:136433200-136462600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr3:136438000-136458000	Weak transcription	Esophagus	oesophagus
6	chr3:136438800-136461200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr3:136439200-136454400	Weak transcription	Fetal Stomach	stomach
8	chr3:136444000-136455000	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr3:136444200-136455000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr3:136445400-136460000	Weak transcription	Gastric	stomach
11	chr3:136446400-136460000	Weak transcription	K562	blood
12	chr3:136448000-136455600	Weak transcription	Fetal Lung	lung
13	chr3:136448000-136460800	Weak transcription	Brain Germinal Matrix	brain
14	chr3:136448200-136454000	Enhancers	Brain Substantia Nigra	brain
15	chr3:136448200-136455000	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr3:136448200-136459800	Weak transcription	Osteobl	bone
17	chr3:136448200-136460000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr3:136448200-136467600	Weak transcription	HSMM	muscle
19	chr3:136448200-136467800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr3:136448200-136467800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr3:136448200-136467800	Weak transcription	HSMMtube	muscle
22	chr3:136448400-136455400	Weak transcription	NH-A	brain
23	chr3:136448400-136459800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr3:136448600-136460200	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr3:136448600-136462800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr3:136448600-136463800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr3:136448600-136467600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr3:136449000-136454000	Weak transcription	Lung	lung
29	chr3:136449000-136470000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr3:136449200-136454600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr3:136449800-136462400	Weak transcription	Dnd41	blood
32	chr3:136450200-136461200	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr3:136450400-136455400	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr3:136450400-136460000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr3:136450400-136467800	Weak transcription	Psoas Muscle	Psoas
36	chr3:136450600-136455600	Weak transcription	Fetal Intestine Large	intestine
37	chr3:136450600-136467800	Weak transcription	Primary B cells from cord blood	blood
38	chr3:136450800-136454000	Weak transcription	Fetal Intestine Small	intestine
39	chr3:136450800-136454000	Weak transcription	Fetal Thymus	thymus
40	chr3:136450800-136455400	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr3:136450800-136462800	Weak transcription	Thymus	Thymus
42	chr3:136450800-136467800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr3:136450800-136467800	Weak transcription	Duodenum Mucosa	Duodenum
44	chr3:136450800-136467800	Weak transcription	Rectal Smooth Muscle	rectum
45	chr3:136450800-136469000	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr3:136451000-136467800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr3:136451400-136459600	Weak transcription	NHEK	skin
48	chr3:136451600-136454000	Enhancers	Brain Angular Gyrus	brain
49	chr3:136451800-136457400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr3:136452000-136454400	Enhancers	Brain Hippocampus Middle	brain

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