Variant report

Variant	rs57541793
Chromosome Location	chr4:99488023-99488024
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:99485403..99488335-chr4:99490236..99493906,4	MCF-7	breast:
2	chr4:99483863..99486365-chr4:99487741..99490347,3	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10026446	0.83[ASN][1000 genomes]
rs1547382	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4699654	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62323626	0.91[ASN][1000 genomes]
rs62323627	0.85[ASN][1000 genomes]
rs62323629	0.83[ASN][1000 genomes]
rs62323632	0.83[ASN][1000 genomes]
rs62323633	0.83[ASN][1000 genomes]
rs6833529	0.83[ASN][1000 genomes]
rs73832354	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7666573	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7666585	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7667273	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754250	chr4:99094922-99527122	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1004181	chr4:99208152-99529576	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv2760882	chr4:99460485-99521345	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99466800-99501600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr4:99479000-99490200	Weak transcription	HSMMtube	muscle
3	chr4:99479000-99506400	Weak transcription	Aorta	Aorta
4	chr4:99483200-99495800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:99483400-99498800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:99484200-99495400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr4:99485000-99490800	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr4:99485000-99501400	Weak transcription	HUVEC	blood vessel
9	chr4:99485400-99491000	Enhancers	Fetal Brain Male	brain
10	chr4:99485400-99495000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr4:99485600-99488200	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr4:99485600-99488400	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr4:99485600-99489200	Enhancers	Fetal Heart	heart
14	chr4:99485800-99488400	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr4:99486000-99488200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr4:99486000-99488200	Enhancers	Fetal Brain Female	brain
17	chr4:99486000-99488400	Enhancers	H1 Cell Line	embryonic stem cell
18	chr4:99486000-99488400	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr4:99486000-99488400	Enhancers	Rectal Smooth Muscle	rectum
20	chr4:99486000-99488800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr4:99486000-99489000	Enhancers	Ovary	ovary
22	chr4:99486000-99489200	Enhancers	Fetal Thymus	thymus
23	chr4:99486000-99491000	Enhancers	Thymus	Thymus
24	chr4:99486000-99491400	Enhancers	Fetal Muscle Leg	muscle
25	chr4:99486200-99488200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr4:99486600-99488600	Enhancers	Fetal Stomach	stomach
27	chr4:99486800-99488200	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr4:99486800-99488200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr4:99486800-99488200	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr4:99486800-99488200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr4:99486800-99488200	Enhancers	Placenta	Placenta
32	chr4:99486800-99488200	Enhancers	Lung	lung
33	chr4:99486800-99488200	Enhancers	Right Ventricle	heart
34	chr4:99486800-99488200	Enhancers	Stomach Smooth Muscle	stomach
35	chr4:99486800-99488200	Enhancers	Spleen	Spleen
36	chr4:99486800-99488200	Enhancers	HSMM	muscle
37	chr4:99486800-99488400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr4:99486800-99488400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr4:99486800-99488400	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr4:99486800-99488400	Enhancers	Fetal Lung	lung
41	chr4:99486800-99488400	Enhancers	Left Ventricle	heart
42	chr4:99487000-99488200	Enhancers	Muscle Satellite Cultured Cells	--
43	chr4:99487000-99488400	Flanking Active TSS	Brain Hippocampus Middle	brain
44	chr4:99487000-99488800	Enhancers	NHDF-Ad	bronchial
45	chr4:99487200-99488200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
46	chr4:99487200-99500000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr4:99487400-99488200	Flanking Active TSS	Brain Germinal Matrix	brain
48	chr4:99487400-99488200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr4:99487400-99495000	Weak transcription	Primary T cells from cord blood	blood
50	chr4:99487600-99488200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links