Variant report

Variant	rs11932185
Chromosome Location	chr4:79287631-79287632
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:79286769..79289237-chr4:79296825..79298544,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs11098160	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11098164	0.93[ASN][1000 genomes]
rs1471750	0.92[ASN][1000 genomes]
rs1872264	0.90[ASN][1000 genomes]
rs1872265	0.92[ASN][1000 genomes]
rs2100483	0.97[ASN][1000 genomes]
rs4975163	0.92[ASN][1000 genomes]
rs4975164	0.89[ASN][1000 genomes]
rs6533620	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7670150	0.90[ASN][1000 genomes]
rs7679527	0.92[ASN][1000 genomes]
rs923015	0.92[ASN][1000 genomes]
rs923016	0.92[ASN][1000 genomes]
rs923017	0.91[CHB][hapmap];0.98[CHD][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs923019	0.90[CHB][hapmap];0.93[ASN][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	nsv534024	chr4:78785189-79437403	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1009633	chr4:78887573-79652236	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv1010782	chr4:79057839-79387207	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv829978	chr4:79144453-79291868	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11932185	RCHY1	cis	parietal	SCAN
rs11932185	RCHY1	cis	cerebellum	SCAN

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79258800-79291000	Weak transcription	Fetal Lung	lung
2	chr4:79261400-79287800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr4:79275400-79310600	Weak transcription	Aorta	Aorta
4	chr4:79276000-79289800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr4:79282400-79292800	Weak transcription	Psoas Muscle	Psoas
6	chr4:79282800-79295000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:79283000-79291600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr4:79283200-79290200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr4:79283600-79292400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr4:79283600-79292800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr4:79284200-79288800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr4:79284200-79290000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr4:79284400-79288000	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr4:79284600-79288400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
15	chr4:79284600-79289400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr4:79284600-79289600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr4:79284600-79353600	Weak transcription	Left Ventricle	heart
18	chr4:79284800-79288000	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr4:79284800-79288200	Strong transcription	H1 Cell Line	embryonic stem cell
20	chr4:79284800-79293400	Weak transcription	Fetal Intestine Large	intestine
21	chr4:79285000-79287800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr4:79285000-79288400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr4:79285200-79289600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr4:79285200-79290400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr4:79285200-79291000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr4:79285400-79289600	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr4:79285600-79296600	Weak transcription	Fetal Stomach	stomach
28	chr4:79286800-79291800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr4:79287000-79288600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr4:79287000-79290200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr4:79287200-79291000	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr4:79287400-79288000	Strong transcription	Pancreas	Pancrea
33	chr4:79287400-79288200	Strong transcription	H9 Cell Line	embryonic stem cell
34	chr4:79287400-79288800	Strong transcription	Fetal Intestine Small	intestine
35	chr4:79287600-79287800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr4:79287600-79288200	Strong transcription	HSMMtube	muscle
37	chr4:79287600-79288800	Strong transcription	HepG2	liver

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