Variant report

Variant	esv3422505
Chromosome Location	chr4:1186502-1188900
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:1180737..1182546-chr4:1185790..1187373,2	K562	blood:
2	chr4:1185381..1187525-chr4:1340358..1342125,2	MCF-7	breast:
3	chr4:1184524..1188288-chr4:1189754..1192117,3	MCF-7	breast:
4	chr4:1172668..1175501-chr4:1185968..1187625,2	MCF-7	breast:
5	chr4:1184548..1187736-chr4:1238018..1240467,3	MCF-7	breast:
6	chr4:1184981..1187238-chr4:1195672..1197196,2	MCF-7	breast:
7	chr4:1186052..1187748-chr4:1201395..1203257,2	MCF-7	breast:
8	chr4:1185501..1187466-chr4:1194347..1197151,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000159674	chromatin interactions
ENSG00000163945	chromatin interactions

Extended variants
information (count: 134 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:134 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560413816	chr4:1186582-1186583	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs186740708	chr4:1186587-1186588	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs545921283	chr4:1186592-1186593	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs563990207	chr4:1186672-1186673	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs190795997	chr4:1186709-1186710	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs549534270	chr4:1186711-1186712	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs567937656	chr4:1186771-1186772	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs529106825	chr4:1186773-1186774	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs547454700	chr4:1186798-1186799	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs565679970	chr4:1186847-1186848	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs11933329	chr4:1186864-1186865	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs557791488	chr4:1186865-1186866	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs11724575	chr4:1186876-1186877	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs538617780	chr4:1186883-1186884	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs28545482	chr4:1186903-1186904	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs373040643	chr4:1186951-1186952	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs148097623	chr4:1187017-1187018	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs542095962	chr4:1187039-1187040	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs554235491	chr4:1187064-1187065	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs140934279	chr4:1187088-1187089	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs545748201	chr4:1187138-1187139	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs561550515	chr4:1187143-1187144	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs574326199	chr4:1187164-1187165	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs564157768	chr4:1187171-1187172	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs575906565	chr4:1187173-1187174	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs5855695	chr4:1187195-1187196	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs564688364	chr4:1187196-1187197	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs397748590	chr4:1187202-1187203	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs183049041	chr4:1187221-1187222	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs543293002	chr4:1187366-1187367	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs561870076	chr4:1187367-1187368	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs529076764	chr4:1187394-1187395	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs200331079	chr4:1187406-1187407	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs201152867	chr4:1187428-1187429	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs187064635	chr4:1187431-1187432	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs559353796	chr4:1187436-1187437	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs138950450	chr4:1187478-1187479	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs145563710	chr4:1187479-1187480	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs112122778	chr4:1187490-1187491	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs71168815	chr4:1187500-1187501	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs62293581	chr4:1187502-1187503	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs62293582	chr4:1187510-1187511	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs62293583	chr4:1187511-1187512	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs62293584	chr4:1187516-1187517	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs185858997	chr4:1187522-1187523	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs563974743	chr4:1187531-1187532	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs71614953	chr4:1187535-1187536	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs146757031	chr4:1187539-1187540	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs76801804	chr4:1187541-1187542	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs188800952	chr4:1187553-1187554	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Wolf-Hirschhorn syndrome	21549014	CNVD
Breast cancer	21806811	CNVD
Wolf-Hirschhorn syndrome	22283845	CNVD
Wolf-Hirschhorn syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Wolf-Hirschhorn syndrome	22470819	CNVD
Wolf-Hirschhorn syndrome	18541967	CNVD
sporadic birth defects	19047251	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
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
Breast cancer	17142309	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	20932292	CNVD

Chromatin state (count:219 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:1178400-1189600	Weak transcription	Dnd41	blood
2	chr4:1180400-1187000	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr4:1180800-1194000	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr4:1181200-1193400	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr4:1181200-1193600	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr4:1181600-1190000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr4:1181600-1190000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr4:1181600-1193600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr4:1182600-1190200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr4:1184400-1194000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr4:1185000-1204200	Enhancers	Fetal Muscle Leg	muscle
12	chr4:1185200-1186600	Enhancers	Adipose Nuclei	Adipose
13	chr4:1185200-1186600	Enhancers	Colonic Mucosa	Colon
14	chr4:1185200-1187200	Enhancers	Esophagus	oesophagus
15	chr4:1185200-1187200	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr4:1185200-1188000	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr4:1185200-1188000	Enhancers	Stomach Mucosa	stomach
18	chr4:1185200-1188200	Enhancers	Fetal Muscle Trunk	muscle
19	chr4:1185200-1188400	Enhancers	Ovary	ovary
20	chr4:1185200-1189600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr4:1185200-1190000	Enhancers	Fetal Stomach	stomach
22	chr4:1185200-1190400	Bivalent Enhancer	Placenta	Placenta
23	chr4:1185400-1187200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr4:1185400-1187200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr4:1185400-1187200	Enhancers	Brain Germinal Matrix	brain
26	chr4:1185400-1187200	Enhancers	Psoas Muscle	Psoas
27	chr4:1185400-1187400	Enhancers	Gastric	stomach
28	chr4:1185400-1187800	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr4:1185400-1187800	Enhancers	Spleen	Spleen
30	chr4:1185400-1188000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr4:1185400-1188200	Enhancers	Pancreas	Pancrea
32	chr4:1185400-1188200	Enhancers	Right Atrium	heart
33	chr4:1185400-1188400	Enhancers	Liver	Liver
34	chr4:1185400-1188400	Enhancers	Fetal Intestine Small	intestine
35	chr4:1185400-1188400	Enhancers	Left Ventricle	heart
36	chr4:1185400-1188400	Enhancers	Lung	lung
37	chr4:1185400-1188600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr4:1185400-1188600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr4:1185400-1188600	Enhancers	Brain Angular Gyrus	brain
40	chr4:1185400-1188600	Enhancers	Rectal Mucosa Donor 29	rectum
41	chr4:1185400-1188600	Enhancers	NH-A	brain
42	chr4:1185400-1188800	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr4:1185400-1189200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr4:1185400-1189200	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr4:1185400-1189200	Enhancers	Brain Cingulate Gyrus	brain
46	chr4:1185400-1190400	Enhancers	Right Ventricle	heart
47	chr4:1185600-1186800	Enhancers	HUVEC	blood vessel
48	chr4:1185600-1187000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr4:1185600-1187200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr4:1185600-1187400	Flanking Active TSS	Stomach Smooth Muscle	stomach

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