Variant report

Variant	nsv822493
Chromosome Location	chr4:15705039-15706373
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr4:15705695-15705794	GM19239	blood:	n/a	n/a
2	E2F6	chr4:15704499-15705041	A549	lung:	n/a	n/a
3	MYC	chr4:15706027-15706138	H1-hESC	embryonic stem cell:	n/a	n/a
4	MYC	chr4:15705589-15705731	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr4:15706171-15706206	Gliobla	brain:	n/a	n/a
6	POLR2A	chr4:15704436-15705176	HL-60	blood:	n/a	n/a
7	POLR2A	chr4:15704439-15705084	HL-60	blood:	n/a	n/a
8	POLR2A	chr4:15705613-15705868	HepG2	liver:	n/a	n/a
9	REST	chr4:15704434-15705043	HL-60	blood:	n/a	n/a
10	SPI1	chr4:15704371-15705052	HL-60	blood:	n/a	chr4:15704718-15704731

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:15655590..15657245-chr4:15703796..15706264,2	K562	blood:

Variant related genes	Relation type
BST1	TF binding region
ENSG00000118564	chromatin interactions

Extended variants
information (count: 90 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:90 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2302467	chr4:15705039-15705040	Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs563451565	chr4:15705053-15705054	Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs557579640	chr4:15705134-15705135	Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs532254973	chr4:15705142-15705143	Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs115890946	chr4:15705162-15705163	Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs200430877	chr4:15705185-15705186	Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs546240618	chr4:15705192-15705193	Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs559597234	chr4:15705198-15705199	Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs552439912	chr4:15705200-15705201	Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs528462308	chr4:15705217-15705218	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs189310075	chr4:15705235-15705236	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs201773479	chr4:15705252-15705253	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs545560006	chr4:15705254-15705255	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs76422069	chr4:15705256-15705257	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs559033385	chr4:15705265-15705266	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs138333020	chr4:15705267-15705268	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs78739477	chr4:15705268-15705269	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs112033687	chr4:15705269-15705270	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs74346571	chr4:15705270-15705271	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs111928951	chr4:15705271-15705272	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs571014602	chr4:15705272-15705273	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs371100446	chr4:15705326-15705327	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs533363864	chr4:15705332-15705333	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs140146676	chr4:15705337-15705338	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs377258030	chr4:15705338-15705339	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs73115624	chr4:15705340-15705341	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs375915254	chr4:15705341-15705342	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs546647098	chr4:15705342-15705343	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs566460278	chr4:15705349-15705350	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs113020617	chr4:15705360-15705361	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs375779235	chr4:15705374-15705375	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs535415200	chr4:15705376-15705377	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs528475138	chr4:15705400-15705401	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs554974350	chr4:15705405-15705406	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs370172822	chr4:15705428-15705429	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs527479232	chr4:15705477-15705478	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs568808981	chr4:15705510-15705511	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs548576970	chr4:15705551-15705552	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs111203806	chr4:15705557-15705558	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs532464456	chr4:15705566-15705567	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs374409381	chr4:15705567-15705568	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs180901861	chr4:15705579-15705580	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs146444244	chr4:15705613-15705614	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs371372027	chr4:15705614-15705615	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs577721856	chr4:15705630-15705631	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs371577247	chr4:15705647-15705648	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs537510399	chr4:15705664-15705665	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs111203807	chr4:15705697-15705698	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs138135041	chr4:15705724-15705725	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs138335922	chr4:15705771-15705772	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:49)

Disease	PMID	Source
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	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
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:145 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15697600-15723600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:15703200-15706600	Weak transcription	HepG2	liver
3	chr4:15703800-15705400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
4	chr4:15703800-15705600	Active TSS	Stomach Smooth Muscle	stomach
5	chr4:15704000-15705200	Enhancers	Fetal Brain Male	brain
6	chr4:15704000-15705400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr4:15704000-15705400	Active TSS	Fetal Kidney	kidney
8	chr4:15704200-15705200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr4:15704200-15705200	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr4:15704200-15705200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
11	chr4:15704200-15705200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
12	chr4:15704200-15705200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr4:15704200-15705200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
14	chr4:15704200-15705200	Active TSS	Placenta Amnion	Placenta Amnion
15	chr4:15704200-15705200	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr4:15704200-15705200	Active TSS	Rectal Mucosa Donor 31	rectum
17	chr4:15704200-15705200	Active TSS	NHDF-Ad	bronchial
18	chr4:15704200-15705400	Active TSS	A549	lung
19	chr4:15704200-15705400	Active TSS	NH-A	brain
20	chr4:15704200-15705600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr4:15704200-15705600	Active TSS	Rectal Smooth Muscle	rectum
22	chr4:15704200-15705800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr4:15704400-15705200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr4:15704400-15705200	Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr4:15704400-15705200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
26	chr4:15704400-15705200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr4:15704400-15705200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
28	chr4:15704400-15705200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
29	chr4:15704400-15705200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr4:15704400-15705200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr4:15704400-15705200	Active TSS	Brain Cingulate Gyrus	brain
32	chr4:15704400-15705200	Active TSS	Brain Germinal Matrix	brain
33	chr4:15704400-15705200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr4:15704400-15705200	Active TSS	Brain Substantia Nigra	brain
35	chr4:15704400-15705200	Active TSS	Colonic Mucosa	Colon
36	chr4:15704400-15705200	Active TSS	Colon Smooth Muscle	Colon
37	chr4:15704400-15705200	Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr4:15704400-15705200	Active TSS	Fetal Intestine Large	intestine
39	chr4:15704400-15705200	Active TSS	Fetal Stomach	stomach
40	chr4:15704400-15705200	Active TSS	Psoas Muscle	Psoas
41	chr4:15704400-15705200	Active TSS	Right Atrium	heart
42	chr4:15704400-15705200	Flanking Bivalent TSS/Enh	Dnd41	blood
43	chr4:15704400-15705400	Active TSS	Primary T cells from cord blood	blood
44	chr4:15704400-15705600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr4:15704400-15705600	Active TSS	Duodenum Mucosa	Duodenum
46	chr4:15704400-15705800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr4:15704600-15705200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr4:15704600-15705200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr4:15704600-15705200	Active TSS	Brain Angular Gyrus	brain
50	chr4:15704600-15705200	Active TSS	Brain Anterior Caudate	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links