Variant report

Variant	rs11691085
Chromosome Location	chr2:184074201-184074202
allele	A/G
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	POLR2A	chr2:184074097-184074421	K562	blood:	n/a	n/a
2	CEBPB	chr2:184074194-184074490	H1-hESC	embryonic stem cell:	n/a	chr2:184074360-184074371
3	KAP1	chr2:184074144-184074899	K562	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NUP35-2	chr2:184073977-184075193	NONHSAT075944
2	lnc-NUP35-2	chr2:184073977-184075193	FPKM1_group_17816_transcript_3

Variant related genes	Relation type
ENSG00000272800	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10153562	0.81[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10168255	0.88[ASN][1000 genomes]
rs10168331	0.88[ASN][1000 genomes]
rs10172947	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10183843	0.91[ASN][1000 genomes]
rs10184666	0.95[ASN][1000 genomes]
rs10497622	0.92[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.94[YRI][hapmap];0.80[AFR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13410455	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13414878	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13420955	0.89[ASN][1000 genomes]
rs2368384	0.95[ASN][1000 genomes]
rs2368385	0.95[ASN][1000 genomes]
rs35424610	0.93[ASN][1000 genomes]
rs6434004	0.85[ASN][1000 genomes]
rs6733251	0.93[ASN][1000 genomes]
rs6733594	0.93[ASN][1000 genomes]
rs6739299	0.95[ASN][1000 genomes]
rs6741334	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7607102	0.94[CHB][hapmap];0.94[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv1005281	chr2:183803173-184093877	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv875485	chr2:183827018-184195265	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1010799	chr2:183855680-184244721	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv536072	chr2:183855680-184244721	Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv875486	chr2:184016627-184095979	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:184047800-184078400	Weak transcription	Colon Smooth Muscle	Colon
2	chr2:184049000-184078000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:184050400-184091600	Weak transcription	Psoas Muscle	Psoas
4	chr2:184053200-184076000	Weak transcription	Pancreas	Pancrea
5	chr2:184054000-184076200	Weak transcription	Primary B cells from cord blood	blood
6	chr2:184055600-184076400	Weak transcription	Primary T cells from cord blood	blood
7	chr2:184062800-184080600	Weak transcription	K562	blood
8	chr2:184072000-184076400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:184072200-184074800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr2:184072200-184082800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:184072600-184094000	Weak transcription	HSMM	muscle
12	chr2:184073000-184084600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:184073600-184075000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr2:184074000-184074800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr2:184074000-184074800	ZNF genes & repeats	Dnd41	blood
16	chr2:184074200-184074400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr2:184074200-184074400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
18	chr2:184074200-184074600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
19	chr2:184074200-184074800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
20	chr2:184074200-184074800	Strong transcription	A549	lung
21	chr2:184074200-184075000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:184074200-184075000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin

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