Variant report

Variant	rs4406604
Chromosome Location	chr1:226399467-226399468
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:226397777..226400510-chr1:226400923..226402463,2	K562	blood:
2	chr1:226398585..226401075-chr1:226416599..226418723,2	K562	blood:
3	chr1:226397348..226400150-chr1:226410612..226412139,2	K562	blood:
4	chr1:226373215..226375431-chr1:226398887..226401624,3	K562	blood:
5	chr1:226398336..226400458-chr1:226404822..226407539,2	K562	blood:
6	chr1:226398182..226400458-chr1:226404038..226407539,3	K562	blood:

Variant related genes	Relation type
ENSG00000182827	Chromatin interaction
ENSG00000185155	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1109637	1.00[EUR][1000 genomes]
rs16845638	1.00[EUR][1000 genomes]
rs1998272	1.00[AMR][1000 genomes]
rs2377018	1.00[EUR][1000 genomes]
rs3219041	1.00[AMR][1000 genomes]
rs3845505	1.00[EUR][1000 genomes]
rs3845508	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56079566	1.00[EUR][1000 genomes]
rs61835253	1.00[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	nsv832759	chr1:226303760-226504170	Weak transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv2829936	chr1:226375267-226488826	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv517107	chr1:226375267-226508645	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv873233	chr1:226385623-226508645	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226375200-226411000	Weak transcription	Right Atrium	heart
2	chr1:226394800-226402200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:226396200-226399600	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr1:226397400-226400600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:226398800-226400000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:226399000-226399600	Weak transcription	Esophagus	oesophagus
7	chr1:226399000-226411200	Weak transcription	Gastric	stomach
8	chr1:226399200-226400200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr1:226399200-226400200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr1:226399200-226400200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:226399200-226400400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:226399200-226400600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr1:226399200-226400800	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr1:226399200-226402400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:226399200-226403200	Weak transcription	K562	blood
16	chr1:226399400-226400400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr1:226399400-226400600	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr1:226399400-226400600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:226399400-226400600	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr1:226399400-226400600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr1:226399400-226403000	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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