Variant report

Variant	rs11891731
Chromosome Location	chr2:187395442-187395443
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:187393393..187396290-chr2:187445329..187448108,2	MCF-7	breast:
2	chr2:187386798..187388432-chr2:187393071..187395661,2	K562	blood:
3	chr2:187392659..187395517-chr2:187406680..187408986,2	MCF-7	breast:
4	chr2:187350468..187353373-chr2:187393682..187395846,2	K562	blood:
5	chr2:187388812..187391488-chr2:187392591..187395983,4	K562	blood:
6	chr2:187393911..187396398-chr2:187454708..187456930,2	K562	blood:

Variant related genes	Relation type
ENSG00000065548	Chromatin interaction
ENSG00000138448	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10194631	0.81[EUR][1000 genomes]
rs10200873	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10209563	0.81[EUR][1000 genomes]
rs10209572	0.80[EUR][1000 genomes]
rs10804005	0.86[EUR][1000 genomes]
rs10931247	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11685403	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11695304	0.80[ASN][1000 genomes]
rs12693452	0.86[EUR][1000 genomes]
rs12693453	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13407441	0.81[EUR][1000 genomes]
rs1372649	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1375124	0.81[EUR][1000 genomes]
rs1376783	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1584695	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17333648	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17333690	0.80[ASN][1000 genomes]
rs17333717	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1839120	0.80[EUR][1000 genomes]
rs2083678	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2099849	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2119861	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2119863	0.80[ASN][1000 genomes]
rs4144784	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4365424	0.86[EUR][1000 genomes]
rs4544390	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4666706	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4667104	0.91[ASN][1000 genomes]
rs4667106	0.81[EUR][1000 genomes]
rs58300265	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs66647013	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs66694735	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6717629	0.80[ASN][1000 genomes]
rs6717871	0.80[ASN][1000 genomes]
rs6741214	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6753278	0.81[EUR][1000 genomes]
rs6755033	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs68022965	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs68161763	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs719071	0.91[ASN][1000 genomes]
rs719072	0.91[ASN][1000 genomes]
rs72897347	0.85[EUR][1000 genomes]
rs7572236	0.80[ASN][1000 genomes]
rs7577962	0.87[ASN][1000 genomes]
rs7588772	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs766633	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757844	chr2:187332780-187580547	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv2759107	chr2:187332780-187580547	Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv459988	chr2:187364878-187440683	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv584031	chr2:187364878-187440683	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv1004309	chr2:187389880-187455946	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv536082	chr2:187389880-187455946	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv875552	chr2:187393729-187505486	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187363000-187408800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:187363200-187397600	Weak transcription	Small Intestine	intestine
3	chr2:187367200-187396800	Weak transcription	Gastric	stomach
4	chr2:187367200-187405800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr2:187371000-187395800	Weak transcription	Fetal Heart	heart
6	chr2:187371000-187407800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr2:187373600-187395800	Weak transcription	HSMMtube	muscle
8	chr2:187373600-187397600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr2:187374400-187396200	Weak transcription	Brain Substantia Nigra	brain
10	chr2:187374400-187398800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr2:187377200-187397200	Weak transcription	HUVEC	blood vessel
12	chr2:187379000-187397400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr2:187381800-187406600	Weak transcription	NHEK	skin
14	chr2:187383000-187397000	Weak transcription	K562	blood
15	chr2:187383400-187397600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr2:187384200-187397800	Weak transcription	A549	lung
17	chr2:187386200-187395800	Weak transcription	NH-A	brain
18	chr2:187386200-187397000	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr2:187386200-187397400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:187386200-187398400	Weak transcription	Liver	Liver
21	chr2:187386200-187405200	Weak transcription	HSMM	muscle
22	chr2:187386200-187408000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr2:187386800-187397400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr2:187386800-187397400	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr2:187386800-187397600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr2:187387000-187395600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:187387200-187397400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:187387400-187397600	Weak transcription	Fetal Intestine Small	intestine
29	chr2:187388000-187399000	Weak transcription	Stomach Smooth Muscle	stomach
30	chr2:187389400-187396200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr2:187394800-187396400	Enhancers	HepG2	liver
32	chr2:187395400-187396200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr2:187395400-187399600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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