Variant report

Variant	rs11133430
Chromosome Location	chr4:57048043-57048044
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	chr4:57046901..57049380-chr4:57055137..57059248,3	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11133429	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12501286	0.81[AMR][1000 genomes]
rs12643797	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12643906	0.81[AMR][1000 genomes]
rs12648988	0.83[AMR][1000 genomes]
rs12649000	0.81[AMR][1000 genomes]
rs2127194	0.81[AMR][1000 genomes]
rs4865063	0.81[AMR][1000 genomes]
rs73158789	0.81[AMR][1000 genomes]
rs7664214	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[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	esv2755990	chr4:56317136-57143037	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv1007114	chr4:56942917-57055381	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv999639	chr4:56942917-57401310	Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv1014045	chr4:56942917-57404511	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	nsv1012036	chr4:56963544-57106642	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57016800-57054000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr4:57023000-57076000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr4:57036000-57049600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:57042000-57052600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr4:57043400-57049800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:57043600-57053600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr4:57045000-57048800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr4:57045000-57049600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr4:57045000-57049600	Weak transcription	Fetal Brain Male	brain
10	chr4:57045000-57049600	Weak transcription	Spleen	Spleen
11	chr4:57045000-57049800	Weak transcription	Fetal Brain Female	brain
12	chr4:57045400-57053400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr4:57045800-57052400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr4:57046600-57053400	Weak transcription	Fetal Intestine Large	intestine
15	chr4:57046800-57051000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr4:57047200-57048800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr4:57047200-57048800	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr4:57047200-57048800	Enhancers	K562	blood
19	chr4:57047200-57049600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr4:57047400-57048200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr4:57047400-57048600	Enhancers	Fetal Thymus	thymus
22	chr4:57047400-57048800	Enhancers	Fetal Muscle Leg	muscle
23	chr4:57047400-57051000	Strong transcription	Brain Germinal Matrix	brain
24	chr4:57047600-57048200	Flanking Active TSS	Dnd41	blood
25	chr4:57047600-57048600	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr4:57047600-57048600	Enhancers	Primary T cells from cord blood	blood
27	chr4:57047600-57049600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr4:57047600-57051000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr4:57047600-57056600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr4:57047800-57048200	Weak transcription	Fetal Muscle Trunk	muscle
31	chr4:57047800-57048800	Strong transcription	Fetal Stomach	stomach
32	chr4:57047800-57053400	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr4:57048000-57048400	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr4:57048000-57049600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr4:57048000-57050600	Weak transcription	Primary hematopoietic stem cells	blood
36	chr4:57048000-57050800	Strong transcription	Fetal Intestine Small	intestine
37	chr4:57048000-57053000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr4:57048000-57053400	Weak transcription	Fetal Kidney	kidney

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