Variant report

Variant	rs55782738
Chromosome Location	chr4:147163535-147163536
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:147163165..147163780-chr4:147837355..147837907,3	K562	blood:
2	chr4:146857394..146859298-chr4:147163388..147165123,2	MCF-7	breast:
3	chr4:147163033..147163759-chr4:147261778..147262323,2	MCF-7	breast:
4	chr4:147096162..147099903-chr4:147161380..147165203,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164167	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1550081	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17021280	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55853628	1.00[EUR][1000 genomes]
rs55930229	1.00[EUR][1000 genomes]
rs56099921	1.00[EUR][1000 genomes]
rs57083284	1.00[EUR][1000 genomes]
rs58863965	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59148890	1.00[EUR][1000 genomes]
rs59361076	1.00[EUR][1000 genomes]
rs59424517	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61466735	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72950636	1.00[EUR][1000 genomes]
rs73852859	1.00[EUR][1000 genomes]
rs73855113	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73855116	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73855118	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73855119	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73855120	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73855121	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73855124	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73855125	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73855129	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73855141	1.00[EUR][1000 genomes]
rs73855509	1.00[EUR][1000 genomes]
rs73855522	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73855523	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461675	chr4:147116864-147768206	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv595651	chr4:147116864-147768206	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:147158000-147164400	Weak transcription	Lung	lung
2	chr4:147160600-147164400	Weak transcription	Spleen	Spleen
3	chr4:147162200-147163600	Enhancers	Colon Smooth Muscle	Colon
4	chr4:147162200-147163800	Enhancers	HSMM	muscle
5	chr4:147162200-147164000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr4:147162200-147164600	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr4:147162200-147164600	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr4:147162200-147167400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr4:147162200-147167600	Enhancers	Fetal Lung	lung
10	chr4:147162200-147167600	Enhancers	Fetal Muscle Leg	muscle
11	chr4:147162400-147163600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr4:147162400-147163600	Enhancers	Fetal Intestine Small	intestine
13	chr4:147162400-147163800	Enhancers	Fetal Heart	heart
14	chr4:147162400-147163800	Enhancers	Fetal Intestine Large	intestine
15	chr4:147162400-147163800	Flanking Active TSS	HUVEC	blood vessel
16	chr4:147162400-147164800	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr4:147162400-147165400	Enhancers	GM12878-XiMat	blood
18	chr4:147162600-147163600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:147162600-147163600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr4:147162600-147163600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr4:147162600-147163600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr4:147162600-147163600	Enhancers	Placenta Amnion	Placenta Amnion
23	chr4:147162600-147163800	Flanking Active TSS	Osteobl	bone
24	chr4:147162600-147164600	Enhancers	Fetal Muscle Trunk	muscle
25	chr4:147162600-147165000	Enhancers	Fetal Stomach	stomach
26	chr4:147162600-147167000	Enhancers	Placenta	Placenta
27	chr4:147162800-147163600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr4:147162800-147163600	Flanking Active TSS	Duodenum Mucosa	Duodenum
29	chr4:147162800-147163600	Enhancers	Pancreas	Pancrea
30	chr4:147162800-147163800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr4:147162800-147163800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr4:147162800-147163800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
33	chr4:147162800-147163800	Enhancers	Esophagus	oesophagus
34	chr4:147162800-147163800	Enhancers	Fetal Brain Male	brain
35	chr4:147162800-147163800	Enhancers	HSMMtube	muscle
36	chr4:147162800-147164000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr4:147162800-147164000	Flanking Active TSS	Brain Hippocampus Middle	brain
38	chr4:147162800-147164000	Flanking Active TSS	Stomach Smooth Muscle	stomach
39	chr4:147162800-147164400	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr4:147162800-147165200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr4:147163000-147163600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr4:147163000-147163600	Active TSS	Brain Angular Gyrus	brain
43	chr4:147163000-147163600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr4:147163000-147163600	Flanking Active TSS	Stomach Mucosa	stomach
45	chr4:147163000-147163800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr4:147163000-147163800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr4:147163000-147163800	Enhancers	Primary B cells from peripheral blood	blood
48	chr4:147163000-147163800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr4:147163000-147163800	Enhancers	Liver	Liver
50	chr4:147163000-147163800	Flanking Active TSS	Brain Anterior Caudate	brain

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