Variant report

Variant	nsv1005872
Chromosome Location	chr4:3686861-3750477
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:59)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:59 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr4:3748965..3749720-chr4:3785547..3786123,2	MCF-7	breast:
2	chr4:3532832..3535276-chr4:3736927..3739502,2	MCF-7	breast:
3	chr4:3741522..3743412-chr4:3768536..3771001,2	MCF-7	breast:
4	chr4:3732007..3734071-chr4:3734519..3736771,2	K562	blood:
5	chr4:3750242..3752537-chr4:3756049..3758500,3	K562	blood:
6	chr4:3747628..3750191-chr4:3756565..3759403,2	K562	blood:
7	chr4:3717857..3720056-chr4:3723644..3725873,2	MCF-7	breast:
8	chr4:3692469..3695326-chr4:3700612..3702603,2	MCF-7	breast:
9	chr4:3743213..3745544-chr4:3747612..3750605,2	K562	blood:
10	chr4:3696636..3698190-chr4:3703877..3705848,2	K562	blood:
11	chr4:3720840..3724300-chr4:3724381..3726602,3	MCF-7	breast:
12	chr4:3720840..3724300-chr4:3724381..3726602,3	MCF-7	breast:
13	chr4:3692469..3695326-chr4:3700612..3702603,2	MCF-7	breast:
14	chr4:3732007..3734071-chr4:3734519..3736771,2	K562	blood:
15	chr4:3687166..3689653-chr4:3692993..3695673,2	MCF-7	breast:
16	chr4:3685214..3686952-chr4:3688635..3690383,2	K562	blood:
17	chr4:3679034..3681438-chr4:3689559..3691418,2	K562	blood:
18	chr4:3717339..3719373-chr4:3721279..3722918,2	MCF-7	breast:
19	chr4:3717857..3720056-chr4:3723644..3725873,2	MCF-7	breast:
20	chr4:3731474..3733507-chr4:3734661..3736771,2	K562	blood:
21	chr4:3687166..3689653-chr4:3692993..3695673,2	MCF-7	breast:
22	chr4:3702438..3704687-chr4:3706308..3708267,2	K562	blood:
23	chr4:3749442..3749991-chr4:3785209..3785794,2	MCF-7	breast:
24	chr4:3720745..3724824-chr4:3727644..3730429,3	K562	blood:
25	chr4:3732579..3734832-chr4:3738622..3741256,2	K562	blood:
26	chr4:3532686..3534956-chr4:3746857..3748482,2	MCF-7	breast:
27	chr4:3685214..3686952-chr4:3688635..3690383,2	K562	blood:
28	chr4:3750111..3752894-chr4:3765280..3767505,2	MCF-7	breast:
29	chr4:3734183..3737112-chr4:3747627..3749869,2	MCF-7	breast:
30	chr4:3719651..3722174-chr4:3722524..3724517,2	K562	blood:
31	chr4:3715270..3718190-chr4:3721526..3723393,2	K562	blood:
32	chr4:3732579..3734832-chr4:3738622..3741256,2	K562	blood:
33	chr4:3702976..3705970-chr4:3735549..3737209,2	K562	blood:
34	chr4:3688266..3689130-chr4:3828986..3829489,2	MCF-7	breast:
35	chr4:3735978..3737529-chr4:3738180..3741033,2	K562	blood:
36	chr4:3731863..3733557-chr4:3747295..3749837,2	MCF-7	breast:
37	chr4:3733497..3735289-chr4:3740604..3743171,2	MCF-7	breast:
38	chr4:3696636..3698190-chr4:3703877..3705848,2	K562	blood:
39	chr4:3715270..3718190-chr4:3721526..3723393,2	K562	blood:
40	chr4:3743213..3745544-chr4:3747612..3750605,2	K562	blood:
41	chr14:52308290..52309229-chr4:3693785..3694520,2	MCF-7	breast:
42	chr4:3720745..3724824-chr4:3727644..3730429,3	K562	blood:
43	chr4:3702438..3704687-chr4:3706308..3708267,2	K562	blood:
44	chr4:3717339..3719373-chr4:3721279..3722918,2	MCF-7	breast:
45	chr4:3735978..3737529-chr4:3738180..3741033,2	K562	blood:
46	chr4:3731474..3733507-chr4:3734661..3736771,2	K562	blood:
47	chr4:3734183..3737112-chr4:3747627..3749869,2	MCF-7	breast:
48	chr4:3687613..3689939-chr4:3692634..3695319,3	K562	blood:
49	chr4:3729899..3732092-chr4:3767208..3768839,2	MCF-7	breast:
50	chr4:3702976..3705970-chr4:3735549..3737209,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000250986	chromatin interactions
ENSG00000163956	chromatin interactions
ENSG00000250632	chromatin interactions
ENSG00000251669	chromatin interactions
ENSG00000184160	chromatin interactions

Extended variants
information (count: 3194 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:3194 , 50 per page) page: 1 2 3 4 5 6 7 ... 64

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147158957	chr4:3686866-3686867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs115224012	chr4:3686872-3686873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs543253382	chr4:3686883-3686884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113229316	chr4:3686901-3686902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568703945	chr4:3686922-3686923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs527707705	chr4:3686923-3686924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs12108395	chr4:3686949-3686950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189957058	chr4:3686963-3686964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs62289431	chr4:3686964-3686965	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs558377685	chr4:3686977-3686978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568690094	chr4:3686978-3686979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs527244658	chr4:3686986-3686987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs111935375	chr4:3687031-3687032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs537780015	chr4:3687075-3687076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs139503546	chr4:3687113-3687114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574645111	chr4:3687115-3687116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs375625973	chr4:3687118-3687119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201541955	chr4:3687124-3687125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533948204	chr4:3687129-3687130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548858137	chr4:3687130-3687131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533554874	chr4:3687150-3687151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553721181	chr4:3687154-3687155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543580391	chr4:3687162-3687163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577061267	chr4:3687255-3687256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192002217	chr4:3687270-3687271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565266996	chr4:3687346-3687347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs4916622	chr4:3687360-3687361	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs542382027	chr4:3687392-3687393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562247808	chr4:3687402-3687403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs527945044	chr4:3687424-3687425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs114578811	chr4:3687444-3687445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564502109	chr4:3687463-3687464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533278497	chr4:3687469-3687470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs367901231	chr4:3687485-3687486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545282754	chr4:3687486-3687487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549843844	chr4:3687498-3687499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184180040	chr4:3687558-3687559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs537668760	chr4:3687573-3687574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548316786	chr4:3687613-3687614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538102808	chr4:3687630-3687631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568306116	chr4:3687640-3687641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534093417	chr4:3687649-3687650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188560256	chr4:3687660-3687661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550339353	chr4:3687676-3687677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560017628	chr4:3687679-3687680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs543218964	chr4:3687680-3687681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs180921063	chr4:3687683-3687684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs372865949	chr4:3687686-3687687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs58816078	chr4:3687687-3687688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs149701632	chr4:3687693-3687694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Retinitis pigmentosa	18421352	CNVD
Wolf-Hirschhorn syndrome	19259404	CNVD
Bladder cancer	19242612	CNVD
Breast cancer	19242612	CNVD
Congenital anomalies of the kidney and urinary tract	19242612	CNVD
abnormal development	18461090	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:608 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3669400-3693400	Weak transcription	Right Atrium	heart
2	chr4:3686200-3689400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:3689400-3690000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:3689800-3690200	Enhancers	Fetal Muscle Leg	muscle
5	chr4:3690000-3690200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr4:3690000-3690200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr4:3690200-3691000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr4:3691000-3692000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr4:3692000-3692600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr4:3692600-3693400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr4:3693400-3693600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr4:3699800-3710800	Weak transcription	Right Atrium	heart
13	chr4:3700200-3700600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
14	chr4:3700800-3706000	Weak transcription	Aorta	Aorta
15	chr4:3701200-3701400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr4:3701200-3701400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr4:3701200-3701800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr4:3701400-3702600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr4:3701600-3701800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr4:3701800-3702000	Enhancers	HSMM	muscle
21	chr4:3701800-3702600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr4:3701800-3704800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr4:3702000-3703200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr4:3702400-3703400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
25	chr4:3702400-3703600	Enhancers	Brain Germinal Matrix	brain
26	chr4:3702400-3704800	Enhancers	Fetal Brain Male	brain
27	chr4:3702600-3702800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr4:3702600-3706200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr4:3702800-3704000	Bivalent Enhancer	Fetal Muscle Leg	muscle
30	chr4:3702800-3705200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr4:3702800-3705600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
32	chr4:3703200-3705000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr4:3703200-3706000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr4:3703400-3705800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr4:3703600-3705200	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr4:3703800-3704000	Enhancers	H1 Cell Line	embryonic stem cell
37	chr4:3703800-3705600	Bivalent Enhancer	Fetal Stomach	stomach
38	chr4:3704000-3704600	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr4:3704400-3705400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
40	chr4:3704600-3706600	Enhancers	H1 Cell Line	embryonic stem cell
41	chr4:3704600-3707000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
42	chr4:3704800-3705000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr4:3704800-3705000	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
44	chr4:3704800-3705000	Bivalent Enhancer	Fetal Lung	lung
45	chr4:3704800-3705200	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
46	chr4:3704800-3705200	Bivalent Enhancer	Stomach Smooth Muscle	stomach
47	chr4:3704800-3705400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
48	chr4:3704800-3705400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr4:3704800-3705400	Bivalent Enhancer	Brain Anterior Caudate	brain
50	chr4:3704800-3705600	Enhancers	Pancreas	Pancrea

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links