Variant report

Variant	rs5030607
Chromosome Location	chr4:110608888-110608889
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:110608213..110611380-chr4:110623031..110625861,3	K562	blood:
2	chr4:110535854..110537402-chr4:110608353..110610613,2	K562	blood:
3	chr4:110603636..110605743-chr4:110606577..110610223,4	K562	blood:

Variant related genes	Relation type
ENSG00000138794	Chromatin interaction
ENSG00000005059	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs13152659	1.00[AMR][1000 genomes]
rs16997098	1.00[AMR][1000 genomes]
rs17040722	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2158205	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4698791	1.00[AMR][1000 genomes]
rs4698793	1.00[AMR][1000 genomes]
rs58064325	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60211464	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61490251	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61735996	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6533454	1.00[AMR][1000 genomes]
rs6533466	1.00[AMR][1000 genomes]
rs6847144	1.00[AMR][1000 genomes]
rs6850937	1.00[AMR][1000 genomes]
rs6851274	1.00[AMR][1000 genomes]
rs72674844	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7442505	1.00[AMR][1000 genomes]
rs7675451	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3349784	chr4:110348873-110723163	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110572600-110623200	Weak transcription	Esophagus	oesophagus
2	chr4:110589600-110623200	Weak transcription	Brain Substantia Nigra	brain
3	chr4:110592000-110611600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr4:110593800-110611600	Weak transcription	K562	blood
5	chr4:110598600-110610400	Weak transcription	HSMMtube	muscle
6	chr4:110598800-110611200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr4:110598800-110622800	Weak transcription	NHEK	skin
8	chr4:110599400-110611400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr4:110600000-110610600	Weak transcription	Colon Smooth Muscle	Colon
10	chr4:110600000-110611400	Weak transcription	Spleen	Spleen
11	chr4:110600200-110613200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr4:110600400-110610000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr4:110600400-110610200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr4:110600400-110611800	Weak transcription	NHDF-Ad	bronchial
15	chr4:110600600-110611200	Weak transcription	HSMM	muscle
16	chr4:110600800-110622600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr4:110601200-110610200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr4:110601200-110611400	Weak transcription	Gastric	stomach
19	chr4:110601200-110615800	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr4:110601400-110610800	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr4:110601600-110611000	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr4:110601600-110613400	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr4:110601800-110622800	Weak transcription	Right Atrium	heart
24	chr4:110602200-110611800	Weak transcription	Brain Germinal Matrix	brain
25	chr4:110602400-110612000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr4:110602600-110612000	Weak transcription	NHLF	lung
27	chr4:110602600-110620000	Weak transcription	Small Intestine	intestine
28	chr4:110602800-110609000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr4:110603000-110610200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr4:110603000-110611400	Weak transcription	Pancreas	Pancrea
31	chr4:110603200-110611800	Weak transcription	Brain Anterior Caudate	brain
32	chr4:110603400-110612000	Weak transcription	Aorta	Aorta
33	chr4:110603800-110609400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr4:110603800-110611000	Strong transcription	Primary T helper cells PMA-I stimulated	--
35	chr4:110604200-110611400	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr4:110604200-110611400	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr4:110604200-110611400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr4:110604200-110611400	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr4:110604200-110612000	Weak transcription	HMEC	breast
40	chr4:110604200-110613400	Weak transcription	Osteobl	bone
41	chr4:110604200-110613800	Weak transcription	Right Ventricle	heart
42	chr4:110604400-110610400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr4:110604400-110611400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr4:110604400-110611400	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr4:110604400-110612000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr4:110604600-110611400	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr4:110604600-110611600	Weak transcription	Fetal Kidney	kidney
48	chr4:110604800-110609200	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr4:110605000-110609000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr4:110605000-110611200	Weak transcription	Stomach Smooth Muscle	stomach

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