Variant report

Variant	nsv3962
Chromosome Location	chr3:119094646-119135321
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:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:119101955..119103666-chr3:119181677..119183349,2	MCF-7	breast:
2	chr3:119134373..119135878-chr3:119140849..119143747,2	K562	blood:
3	chr3:118603264..118603953-chr3:119107511..119108351,3	K562	blood:
4	chr3:119097200..119099175-chr3:119101453..119104068,2	K562	blood:
5	chr3:119093926..119095844-chr3:119097410..119099412,2	K562	blood:
6	chr3:119130788..119134912-chr3:119135156..119139620,7	K562	blood:
7	chr3:119093926..119095844-chr3:119097410..119099412,2	K562	blood:
8	chr3:119099268..119099865-chr3:119278264..119278821,2	MCF-7	breast:
9	chr3:119097016..119099473-chr3:119108077..119109846,2	MCF-7	breast:
10	chr3:119119325..119121330-chr3:119125075..119127881,2	K562	blood:
11	chr20:32886187..32888712-chr3:119104098..119107101,3	MCF-7	breast:
12	chr3:119116494..119120285-chr3:119122032..119124928,4	K562	blood:
13	chr3:119126605..119128685-chr3:119132241..119134737,2	K562	blood:
14	chr3:119111246..119112838-chr3:119114237..119115875,2	K562	blood:
15	chr3:119097016..119099473-chr3:119108077..119109846,2	MCF-7	breast:
16	chr3:119116494..119120285-chr3:119122032..119124928,4	K562	blood:
17	chr3:119111246..119112838-chr3:119114237..119115875,2	K562	blood:
18	chr3:119132282..119134747-chr3:119135512..119137174,2	MCF-7	breast:
19	chr3:119130788..119134912-chr3:119135156..119139620,7	K562	blood:
20	chr3:119097200..119099175-chr3:119101453..119104068,2	K562	blood:
21	chr3:119119325..119121330-chr3:119125075..119127881,2	K562	blood:
22	chr3:119126605..119128685-chr3:119132241..119134737,2	K562	blood:
23	chr3:119133389..119135165-chr3:119214613..119217502,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000121594	chromatin interactions
ENSG00000272662	chromatin interactions
ENSG00000176142	chromatin interactions
ENSG00000113845	chromatin interactions

Extended variants
information (count: 1614 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:1614 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115648338	chr3:119094656-119094657	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs183854189	chr3:119094690-119094691	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs185926001	chr3:119094756-119094757	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs35930929	chr3:119094789-119094790	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs563120480	chr3:119094797-119094798	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs62266690	chr3:119094837-119094838	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs548698372	chr3:119094871-119094872	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566507235	chr3:119094879-119094880	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs149871467	chr3:119094880-119094881	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552045775	chr3:119094882-119094883	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs115205887	chr3:119094914-119094915	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs71834082	chr3:119094951-119094952	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs398071934	chr3:119094954-119094955	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs374386230	chr3:119094955-119094956	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs111469197	chr3:119094956-119094957	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs35162841	chr3:119094957-119094958	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574587513	chr3:119095014-119095015	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs548387842	chr3:119095043-119095044	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs73187859	chr3:119095056-119095057	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553934274	chr3:119095073-119095074	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs183273944	chr3:119095094-119095095	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545854441	chr3:119095126-119095127	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564078779	chr3:119095160-119095161	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577416579	chr3:119095165-119095166	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113414474	chr3:119095193-119095194	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562925834	chr3:119095229-119095230	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs7640911	chr3:119095234-119095235	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs143892225	chr3:119095339-119095340	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560256389	chr3:119095366-119095367	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs527791464	chr3:119095394-119095395	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs13068360	chr3:119095427-119095428	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs143975735	chr3:119095465-119095466	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs140652980	chr3:119095512-119095513	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs531470396	chr3:119095568-119095569	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs550080765	chr3:119095586-119095587	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs112086654	chr3:119095606-119095607	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs199702987	chr3:119095619-119095620	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs568137705	chr3:119095622-119095623	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs535686090	chr3:119095624-119095625	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs17203062	chr3:119095653-119095654	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs186834861	chr3:119095705-119095706	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs539540582	chr3:119095716-119095717	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs145727864	chr3:119095749-119095750	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs192783497	chr3:119095754-119095755	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs13091773	chr3:119095778-119095779	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs17203069	chr3:119095812-119095813	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs556862887	chr3:119095839-119095840	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs574927257	chr3:119095840-119095841	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs541981888	chr3:119095858-119095859	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs553373390	chr3:119095881-119095882	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	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
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	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
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Developmental delay	22180640	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
lymphocytic leukemia	21291569	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Glioblastoma multiforme	22286061	CNVD
Neurodevelopmental disorder	22521361	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD

Chromatin state (count:980 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119069400-119111400	Weak transcription	Fetal Intestine Small	intestine
2	chr3:119072000-119109200	Weak transcription	Brain Substantia Nigra	brain
3	chr3:119072000-119133800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr3:119072200-119099200	Weak transcription	Fetal Muscle Leg	muscle
5	chr3:119072200-119100600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr3:119072200-119101400	Weak transcription	HSMM	muscle
7	chr3:119072200-119109600	Weak transcription	Colon Smooth Muscle	Colon
8	chr3:119072200-119114200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr3:119073000-119098000	Weak transcription	Thymus	Thymus
10	chr3:119073000-119101000	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr3:119076400-119098800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr3:119076400-119101800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr3:119076400-119102000	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr3:119076400-119109200	Weak transcription	Colonic Mucosa	Colon
15	chr3:119076400-119109200	Weak transcription	Esophagus	oesophagus
16	chr3:119076600-119101400	Weak transcription	Duodenum Mucosa	Duodenum
17	chr3:119078800-119111400	Weak transcription	Brain Hippocampus Middle	brain
18	chr3:119079000-119102000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr3:119079400-119109600	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr3:119079800-119110000	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr3:119080000-119145600	Weak transcription	Fetal Kidney	kidney
22	chr3:119081200-119099200	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr3:119081200-119135600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr3:119081400-119114200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr3:119082800-119138000	Weak transcription	Small Intestine	intestine
26	chr3:119084000-119095000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr3:119085000-119109200	Weak transcription	Pancreas	Pancrea
28	chr3:119085200-119139000	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr3:119086400-119110000	Weak transcription	Fetal Thymus	thymus
30	chr3:119087400-119101200	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr3:119087400-119101800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr3:119087800-119099800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr3:119087800-119101000	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr3:119087800-119101800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr3:119088000-119097400	Weak transcription	Fetal Muscle Trunk	muscle
36	chr3:119088000-119098600	Weak transcription	Stomach Smooth Muscle	stomach
37	chr3:119088000-119100000	Weak transcription	HSMMtube	muscle
38	chr3:119088000-119101200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr3:119088000-119101800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr3:119088000-119134200	Weak transcription	NHDF-Ad	bronchial
41	chr3:119088200-119095400	Weak transcription	Aorta	Aorta
42	chr3:119088200-119099400	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr3:119088200-119122400	Weak transcription	Brain Angular Gyrus	brain
44	chr3:119088400-119095400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr3:119088400-119099600	Weak transcription	Fetal Heart	heart
46	chr3:119088400-119099800	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr3:119088400-119101200	Weak transcription	Primary B cells from peripheral blood	blood
48	chr3:119088600-119109200	Weak transcription	Rectal Smooth Muscle	rectum
49	chr3:119091000-119095400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr3:119091000-119099200	Weak transcription	HUVEC	blood vessel

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