Variant report

Variant	rs11133429
Chromosome Location	chr4:57045905-57045906
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs11133430	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12501286	0.83[AMR][1000 genomes]
rs12643797	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12643906	0.83[AMR][1000 genomes]
rs12648988	0.86[AMR][1000 genomes]
rs12649000	0.83[AMR][1000 genomes]
rs2127194	0.83[AMR][1000 genomes]
rs4865063	0.83[AMR][1000 genomes]
rs73158789	0.83[AMR][1000 genomes]
rs7664214	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[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:24 , 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	chr4:57036400-57047400	Weak transcription	Fetal Kidney	kidney
5	chr4:57041400-57048000	Weak transcription	Fetal Intestine Small	intestine
6	chr4:57041600-57047200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr4:57041600-57047600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr4:57042000-57052600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr4:57042600-57047400	Weak transcription	Brain Germinal Matrix	brain
10	chr4:57043400-57047200	Weak transcription	Primary hematopoietic stem cells	blood
11	chr4:57043400-57049800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr4:57043600-57046800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:57043600-57046800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr4:57043600-57053600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr4:57044000-57046800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr4:57045000-57047400	Weak transcription	Fetal Stomach	stomach
17	chr4:57045000-57048800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr4:57045000-57049600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr4:57045000-57049600	Weak transcription	Fetal Brain Male	brain
20	chr4:57045000-57049600	Weak transcription	Spleen	Spleen
21	chr4:57045000-57049800	Weak transcription	Fetal Brain Female	brain
22	chr4:57045400-57053400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr4:57045600-57047200	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr4:57045800-57052400	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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