Variant report

Variant	rs203441
Chromosome Location	chr4:16244522-16244523
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:16228012..16229543-chr4:16242961..16244939,2	K562	blood:
2	chr4:16233218..16235689-chr4:16242386..16245204,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000169762	Chromatin interaction
ENSG00000263327	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10026585	0.83[EUR][1000 genomes]
rs1125986	0.83[EUR][1000 genomes]
rs12499039	0.81[EUR][1000 genomes]
rs16893392	1.00[CEU][hapmap];0.85[GIH][hapmap];0.92[MEX][hapmap]
rs203445	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs203446	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs203448	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2215641	0.83[EUR][1000 genomes]
rs28479363	0.83[EUR][1000 genomes]
rs58854692	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61413777	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62289023	0.82[EUR][1000 genomes]
rs6449222	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7660122	0.89[CEU][hapmap];0.92[GIH][hapmap];0.93[MEX][hapmap];0.81[EUR][1000 genomes]
rs9654127	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004821	chr4:16055996-16830629	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv537046	chr4:16055996-16830629	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv537047	chr4:16182060-16375787	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv537048	chr4:16226406-16375787	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:16229600-16254000	Weak transcription	Ovary	ovary
2	chr4:16229600-16254800	Weak transcription	Psoas Muscle	Psoas
3	chr4:16229800-16259800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr4:16230000-16244800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:16230000-16244800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr4:16234000-16252000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr4:16234000-16252400	Weak transcription	Duodenum Mucosa	Duodenum
8	chr4:16234000-16255000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr4:16234200-16244800	Weak transcription	Right Atrium	heart
10	chr4:16234200-16254400	Weak transcription	NHDF-Ad	bronchial
11	chr4:16234200-16257400	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr4:16234200-16264800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr4:16234400-16247200	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr4:16234400-16247800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr4:16234400-16247800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr4:16234400-16252200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:16234400-16261600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr4:16234600-16246600	Weak transcription	Adipose Nuclei	Adipose
19	chr4:16234800-16253800	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr4:16235000-16252200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr4:16235400-16272800	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr4:16235600-16247200	Weak transcription	Brain Anterior Caudate	brain
23	chr4:16235600-16261600	Weak transcription	Fetal Kidney	kidney
24	chr4:16236200-16252400	Weak transcription	Right Ventricle	heart
25	chr4:16236200-16257400	Weak transcription	Left Ventricle	heart
26	chr4:16237200-16257400	Weak transcription	Brain Hippocampus Middle	brain
27	chr4:16237600-16254800	Weak transcription	Brain Substantia Nigra	brain
28	chr4:16238200-16258800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr4:16238200-16266000	Weak transcription	Fetal Brain Male	brain
30	chr4:16238400-16258400	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr4:16238600-16245200	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr4:16240000-16259800	Weak transcription	Fetal Lung	lung
33	chr4:16240200-16246600	Weak transcription	Fetal Intestine Small	intestine
34	chr4:16240400-16263400	Weak transcription	Fetal Thymus	thymus
35	chr4:16240600-16247400	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr4:16242000-16247400	Weak transcription	Fetal Muscle Trunk	muscle
37	chr4:16242000-16254200	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr4:16242200-16247400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr4:16242200-16247600	Weak transcription	Aorta	Aorta
40	chr4:16242200-16257600	Weak transcription	Gastric	stomach
41	chr4:16242200-16267800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr4:16242400-16244800	Weak transcription	Primary B cells from cord blood	blood
43	chr4:16243000-16258000	Weak transcription	Esophagus	oesophagus
44	chr4:16243400-16255200	Weak transcription	Small Intestine	intestine
45	chr4:16243400-16259200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr4:16243600-16245000	Strong transcription	Primary hematopoietic stem cells	blood
47	chr4:16243600-16252400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr4:16243800-16245000	Strong transcription	Liver	Liver
49	chr4:16244000-16245000	Strong transcription	Sigmoid Colon	Sigmoid Colon
50	chr4:16244000-16245200	Strong transcription	Fetal Intestine Large	intestine

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