Variant report

Variant	rs56717127
Chromosome Location	chr4:110361352-110361353
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:110354930..110357629-chr4:110358117..110363177,4	K562	blood:
2	chr4:110358792..110361560-chr4:110363855..110365822,2	K562	blood:

Variant related genes	Relation type
ENSG00000247950	Chromatin interaction
ENSG00000138802	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11932787	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11933904	1.00[AMR][1000 genomes]
rs11936024	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11936922	1.00[EUR][1000 genomes]
rs11938121	1.00[EUR][1000 genomes]
rs11943569	1.00[EUR][1000 genomes]
rs11946147	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17040395	1.00[EUR][1000 genomes]
rs17040401	1.00[EUR][1000 genomes]
rs17040524	0.83[EUR][1000 genomes]
rs34839272	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56137934	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56761640	0.83[EUR][1000 genomes]
rs57334274	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58850082	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59069711	1.00[EUR][1000 genomes]
rs6841710	1.00[EUR][1000 genomes]
rs6845967	1.00[EUR][1000 genomes]
rs73838811	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461613	chr4:109922064-110593460	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv595129	chr4:109922064-110593460	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	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
4	esv1836921	chr4:110354632-110370867	Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	esv1839822	chr4:110354632-110370867	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110356400-110361400	Enhancers	Primary T cells fromperipheralblood	blood
2	chr4:110356400-110366200	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr4:110356600-110364400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
4	chr4:110356800-110366000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:110357000-110361600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr4:110357000-110362200	Weak transcription	Aorta	Aorta
7	chr4:110357200-110362000	Weak transcription	HSMMtube	muscle
8	chr4:110357200-110362200	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr4:110357200-110363000	Weak transcription	A549	lung
10	chr4:110357200-110363000	Weak transcription	NH-A	brain
11	chr4:110357200-110366000	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr4:110357400-110361600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr4:110357400-110361800	Weak transcription	HSMM	muscle
14	chr4:110357400-110362000	Weak transcription	Brain Substantia Nigra	brain
15	chr4:110357400-110362200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr4:110357400-110362200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr4:110357400-110362200	Weak transcription	Gastric	stomach
18	chr4:110357400-110362600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr4:110357400-110362800	Weak transcription	NHLF	lung
20	chr4:110357400-110363200	Weak transcription	NHDF-Ad	bronchial
21	chr4:110357400-110364400	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr4:110357400-110365200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr4:110357400-110365800	Weak transcription	Fetal Muscle Trunk	muscle
24	chr4:110357400-110366200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr4:110357400-110367200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr4:110357600-110361600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr4:110357600-110362000	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr4:110357600-110362000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr4:110357600-110364600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr4:110357600-110367200	Weak transcription	Fetal Kidney	kidney
31	chr4:110357800-110361600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr4:110357800-110361800	Weak transcription	Brain Angular Gyrus	brain
33	chr4:110357800-110363000	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr4:110357800-110366200	Weak transcription	Fetal Stomach	stomach
35	chr4:110357800-110366400	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr4:110357800-110370600	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr4:110358000-110361600	Weak transcription	Brain Hippocampus Middle	brain
38	chr4:110358000-110361800	Weak transcription	Stomach Smooth Muscle	stomach
39	chr4:110358000-110362000	Weak transcription	Fetal Muscle Leg	muscle
40	chr4:110358000-110362000	Weak transcription	Hela-S3	cervix
41	chr4:110358000-110362200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr4:110358000-110362200	Weak transcription	Fetal Heart	heart
43	chr4:110358000-110362200	Weak transcription	Fetal Lung	lung
44	chr4:110358000-110362200	Weak transcription	Ovary	ovary
45	chr4:110358000-110362200	Weak transcription	Right Ventricle	heart
46	chr4:110358000-110362800	Enhancers	Liver	Liver
47	chr4:110358000-110363400	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr4:110358000-110364800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr4:110358000-110366000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr4:110358000-110366000	Weak transcription	Fetal Intestine Small	intestine

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