Variant report

Variant	esv2105831
Chromosome Location	chr4:7021269-7021673
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:7021136..7024360-chr4:7026095..7028817,3	K562	blood:
2	chr4:7019569..7021853-chr4:7034145..7036760,2	MCF-7	breast:
3	chr4:6927466..6930094-chr4:7020098..7022400,2	MCF-7	breast:
4	chr4:7015008..7018342-chr4:7019176..7022360,4	K562	blood:
5	chr4:7019880..7022246-chr4:7042172..7045634,3	K562	blood:
6	chr4:7016710..7019332-chr4:7019618..7021338,2	MCF-7	breast:
7	chr4:6722979..6724789-chr4:7021205..7023795,2	MCF-7	breast:
8	chr4:7019555..7022636-chr4:7025338..7028522,3	K562	blood:

Variant related genes	Relation type
ENSG00000173013	chromatin interactions
ENSG00000173011	chromatin interactions

Extended variants
information (count: 32 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558116671	chr4:7021315-7021316	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs550184537	chr4:7021337-7021338	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs568579998	chr4:7021352-7021353	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs548279069	chr4:7021360-7021361	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs570141825	chr4:7021361-7021362	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs12650264	chr4:7021365-7021366	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs557612676	chr4:7021419-7021420	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs185601206	chr4:7021436-7021437	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs112689981	chr4:7021446-7021447	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs112790391	chr4:7021451-7021452	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs28651275	chr4:7021476-7021477	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs6830288	chr4:7021490-7021491	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs12648255	chr4:7021500-7021501	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs28407233	chr4:7021505-7021506	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs368304851	chr4:7021524-7021525	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs6812120	chr4:7021530-7021531	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs77442985	chr4:7021544-7021545	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs188423008	chr4:7021546-7021547	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs6830487	chr4:7021554-7021555	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs6828974	chr4:7021559-7021560	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs553659523	chr4:7021574-7021575	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs75181052	chr4:7021584-7021585	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs544583177	chr4:7021585-7021586	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs556012605	chr4:7021587-7021588	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs113515534	chr4:7021598-7021599	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs113905020	chr4:7021608-7021609	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs77596409	chr4:7021614-7021615	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs35535551	chr4:7021638-7021639	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs556583530	chr4:7021639-7021640	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs35859864	chr4:7021662-7021663	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs79833272	chr4:7021667-7021668	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs6855479	chr4:7021668-7021669	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
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
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
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:143 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:6991000-7021800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:6994000-7035600	Strong transcription	Fetal Stomach	stomach
3	chr4:6994000-7043200	Weak transcription	Right Atrium	heart
4	chr4:6994200-7035400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr4:6994600-7021400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr4:6995800-7032800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr4:6996000-7035200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr4:6996400-7034800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr4:6996600-7021400	Strong transcription	Brain Germinal Matrix	brain
10	chr4:7000200-7021600	Strong transcription	Duodenum Smooth Muscle	Duodenum
11	chr4:7000600-7034400	Strong transcription	Dnd41	blood
12	chr4:7001400-7034600	Strong transcription	Primary T cells from cord blood	blood
13	chr4:7001600-7035200	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr4:7001600-7035400	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr4:7001800-7029000	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr4:7001800-7035000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr4:7002000-7034400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr4:7002200-7035400	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr4:7002400-7034400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr4:7003600-7032600	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr4:7006600-7021800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr4:7007600-7022000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr4:7008000-7022200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr4:7008200-7022000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr4:7008200-7034600	Strong transcription	Fetal Brain Female	brain
26	chr4:7008200-7035200	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr4:7008400-7022800	Strong transcription	NHEK	skin
28	chr4:7008400-7035400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr4:7008400-7035400	Strong transcription	Sigmoid Colon	Sigmoid Colon
30	chr4:7008800-7035000	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr4:7009800-7021600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr4:7009800-7035200	Strong transcription	Fetal Intestine Large	intestine
33	chr4:7009800-7035600	Strong transcription	Duodenum Mucosa	Duodenum
34	chr4:7010000-7022200	Weak transcription	Hela-S3	cervix
35	chr4:7010000-7034600	Strong transcription	Adipose Nuclei	Adipose
36	chr4:7010200-7024400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr4:7010200-7032600	Weak transcription	Stomach Mucosa	stomach
38	chr4:7010400-7021400	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr4:7010400-7021600	Strong transcription	Rectal Mucosa Donor 31	rectum
40	chr4:7010800-7021400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr4:7010800-7035000	Strong transcription	Esophagus	oesophagus
42	chr4:7011200-7024400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr4:7011600-7036600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr4:7011600-7043600	Weak transcription	Psoas Muscle	Psoas
45	chr4:7013200-7044400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr4:7014200-7032800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr4:7014400-7034400	Strong transcription	Fetal Thymus	thymus
48	chr4:7014600-7028400	Strong transcription	Colonic Mucosa	Colon
49	chr4:7014600-7034600	Strong transcription	Thymus	Thymus
50	chr4:7014800-7021400	Strong transcription	Ovary	ovary

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