Variant report

Variant	rs1670041
Chromosome Location	chr2:183689010-183689011
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr2:183688824-183689119	HepG2	liver:	n/a	n/a
2	MAFK	chr2:183688804-183689163	HepG2	liver:	n/a	n/a
3	MAFF	chr2:183688846-183689091	K562	blood:	n/a	n/a
4	MAFF	chr2:183688831-183689125	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:183686694..183689194-chr2:183689476..183692268,2	K562	blood:

Variant related genes	Relation type
ENSG00000212404	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10189505	1.00[MEX][hapmap]
rs13021649	1.00[MEX][hapmap]
rs4233770	1.00[MEX][hapmap]
rs4666601	1.00[MEX][hapmap]
rs4666872	1.00[MEX][hapmap]
rs6720664	1.00[MEX][hapmap]
rs6758029	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv2757842	chr2:183437700-183835084	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv2759104	chr2:183437700-183835084	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2756954	chr2:183528670-183764930	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	esv34847	chr2:183537399-183786763	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer 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
6	esv3693445	chr2:183542825-183725221	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv1004531	chr2:183648083-183698793	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv536070	chr2:183648083-183698793	Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1006265	chr2:183666013-183777604	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
10	nsv536071	chr2:183666013-183777604	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 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	chr2:183683800-183689600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr2:183684000-183689200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:183684000-183689200	Weak transcription	Pancreas	Pancrea
4	chr2:183684000-183689200	Weak transcription	HSMMtube	muscle
5	chr2:183684000-183697000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr2:183684200-183689200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr2:183684200-183692600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr2:183684400-183689200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:183684800-183690800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr2:183684800-183690800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr2:183685000-183689200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:183685000-183689200	Weak transcription	Fetal Stomach	stomach
13	chr2:183685000-183689400	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr2:183685000-183691200	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr2:183685200-183691000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:183687400-183691400	Enhancers	Stomach Mucosa	stomach
17	chr2:183688600-183689200	Weak transcription	Fetal Intestine Large	intestine
18	chr2:183688800-183689400	Weak transcription	Gastric	stomach
19	chr2:183689000-183689800	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr2:183689000-183690000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:183689000-183690000	Enhancers	Stomach Smooth Muscle	stomach

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