Variant report

Variant	rs4234832
Chromosome Location	chr4:7833141-7833142
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:7832506..7835446-chr4:7836236..7839914,3	K562	blood:
2	chr4:7813012..7814874-chr4:7831248..7833770,2	K562	blood:
3	chr4:7828803..7835270-chr4:7836618..7840776,8	K562	blood:
4	chr4:7824818..7826333-chr4:7830997..7833193,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11728881	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11728891	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11736967	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4274847	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4689877	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59513878	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60116284	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73084491	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][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	nsv878570	chr4:7534603-7836835	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv491712	chr4:7582506-8155069	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	esv34140	chr4:7787936-8172491	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	esv2754386	chr4:7822449-7992909	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	esv2756298	chr4:7822449-7992909	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7819800-7834400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr4:7821200-7859000	Weak transcription	Aorta	Aorta
3	chr4:7824600-7834600	Genic enhancers	HUVEC	blood vessel
4	chr4:7825400-7839400	Weak transcription	Pancreas	Pancrea
5	chr4:7825600-7852200	Weak transcription	Gastric	stomach
6	chr4:7825800-7854200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr4:7826000-7846000	Weak transcription	Stomach Mucosa	stomach
8	chr4:7826400-7833600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr4:7826600-7842400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr4:7828800-7833600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr4:7829000-7834200	Enhancers	Primary T cells fromperipheralblood	blood
12	chr4:7829200-7833400	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr4:7829400-7833400	Genic enhancers	Muscle Satellite Cultured Cells	--
14	chr4:7829400-7834200	Genic enhancers	NH-A	brain
15	chr4:7830200-7833400	Enhancers	NHLF	lung
16	chr4:7830400-7834200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr4:7830400-7844200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr4:7830400-7850000	Weak transcription	Right Ventricle	heart
19	chr4:7830400-7862600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr4:7830600-7833200	Enhancers	Duodenum Mucosa	Duodenum
21	chr4:7830600-7833200	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr4:7830600-7833200	Weak transcription	Hela-S3	cervix
23	chr4:7830600-7833400	Weak transcription	Brain Hippocampus Middle	brain
24	chr4:7830600-7833600	Weak transcription	Spleen	Spleen
25	chr4:7830600-7833600	Genic enhancers	Osteobl	bone
26	chr4:7830600-7834200	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr4:7830600-7834400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr4:7830600-7836000	Weak transcription	Fetal Brain Male	brain
29	chr4:7830600-7842800	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr4:7830600-7842800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr4:7830600-7843000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr4:7830600-7844200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr4:7830600-7844200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr4:7830600-7844600	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr4:7830600-7845200	Weak transcription	Colonic Mucosa	Colon
36	chr4:7830600-7845800	Weak transcription	Brain Anterior Caudate	brain
37	chr4:7830600-7846400	Weak transcription	Brain Substantia Nigra	brain
38	chr4:7830600-7855200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr4:7830600-7856200	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr4:7830600-7857200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr4:7830600-7862200	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr4:7830600-7862400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr4:7830800-7833200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr4:7830800-7833200	Weak transcription	Left Ventricle	heart
45	chr4:7830800-7833400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr4:7830800-7833600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr4:7830800-7833600	Weak transcription	NHEK	skin
48	chr4:7830800-7837800	Weak transcription	Placenta	Placenta
49	chr4:7830800-7838600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr4:7830800-7839000	Weak transcription	Placenta Amnion	Placenta Amnion

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