Variant report

Variant	rs6735322
Chromosome Location	chr2:182801534-182801535
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:182801425..182803602-chr2:182805060..182807550,3	MCF-7	breast:
2	chr2:182792682..182794662-chr2:182800438..182802896,2	MCF-7	breast:
3	chr2:182795218..182798005-chr2:182799164..182802394,3	K562	blood:
4	chr2:182799694..182801676-chr2:182803632..182806065,2	K562	blood:
5	chr2:182799515..182801884-chr2:182939610..182944921,5	MCF-7	breast:
6	chr2:182801158..182804915-chr2:182807600..182811500,3	MCF-7	breast:
7	chr2:182796728..182799759-chr2:182800356..182802143,3	MCF-7	breast:
8	chr2:182756600..182759521-chr2:182800022..182802426,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000138434	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10165936	1.00[CEU][hapmap]
rs10166975	0.84[EUR][1000 genomes]
rs10173114	1.00[CEU][hapmap]
rs10176061	1.00[CEU][hapmap]
rs10176613	1.00[CEU][hapmap]
rs10176757	1.00[CEU][hapmap]
rs10179363	1.00[CEU][hapmap]
rs10179547	1.00[CEU][hapmap]
rs10189187	0.87[EUR][1000 genomes]
rs10191082	0.84[EUR][1000 genomes]
rs10197254	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10199645	1.00[CEU][hapmap]
rs10200243	1.00[CEU][hapmap]
rs10201303	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs10210215	1.00[CEU][hapmap]
rs10221891	1.00[CEU][hapmap]
rs13389121	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13401364	0.87[EUR][1000 genomes]
rs13404156	1.00[CEU][hapmap]
rs13425734	1.00[CEU][hapmap]
rs1528024	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs1528025	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs1528026	0.84[EUR][1000 genomes]
rs1528027	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs16867498	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs16867509	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17456384	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1881158	1.00[CEU][hapmap]
rs1881159	1.00[CEU][hapmap]
rs2059702	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2288330	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2303554	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2368224	1.00[CEU][hapmap]
rs2368235	0.88[EUR][1000 genomes]
rs3731693	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3815877	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3815878	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4597477	0.84[EUR][1000 genomes]
rs55732891	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55758877	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6433943	1.00[CEU][hapmap]
rs6707164	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs6707654	0.84[EUR][1000 genomes]
rs6720109	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs6720702	1.00[CEU][hapmap]
rs6723011	0.84[EUR][1000 genomes]
rs6736341	0.84[EUR][1000 genomes]
rs6736766	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs6739707	0.84[EUR][1000 genomes]
rs6744556	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6748354	1.00[CEU][hapmap]
rs6751464	0.84[EUR][1000 genomes]
rs6751685	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6754192	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6754819	0.84[EUR][1000 genomes]
rs6755017	1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[TSI][hapmap];0.96[EUR][1000 genomes]
rs73032623	0.87[EUR][1000 genomes]
rs7557969	1.00[CEU][hapmap]
rs7562680	1.00[CEU][hapmap]
rs7563333	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7580410	1.00[CEU][hapmap]
rs7603721	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7606321	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7608942	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9807949	1.00[CEU][hapmap]
rs9808112	1.00[CEU][hapmap]

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	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv834478	chr2:182654811-182843201	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv834479	chr2:182738483-182905444	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6735322	LRFN2	trans	lymphoblastoid	RTeQTL

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182782600-182812800	Weak transcription	Aorta	Aorta
2	chr2:182787600-182806200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr2:182790600-182808800	Weak transcription	Fetal Lung	lung
4	chr2:182790800-182802200	Weak transcription	NHEK	skin
5	chr2:182791200-182807000	Weak transcription	Left Ventricle	heart
6	chr2:182791400-182809000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:182794800-182808800	Weak transcription	Fetal Thymus	thymus
8	chr2:182795000-182801600	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr2:182795000-182808200	Weak transcription	NHLF	lung
10	chr2:182795200-182802200	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr2:182795200-182802200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr2:182795600-182802400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr2:182795600-182805200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:182795800-182802000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:182795800-182802000	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr2:182795800-182802200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr2:182795800-182802200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:182795800-182802200	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr2:182795800-182802400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:182795800-182802400	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr2:182795800-182802400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr2:182795800-182802400	Weak transcription	Hela-S3	cervix
23	chr2:182795800-182802600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr2:182795800-182807600	Weak transcription	Liver	Liver
25	chr2:182795800-182808000	Weak transcription	Dnd41	blood
26	chr2:182796000-182802200	Weak transcription	HMEC	breast
27	chr2:182796000-182808800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr2:182797600-182811200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr2:182800000-182818000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr2:182801200-182802200	Weak transcription	Duodenum Smooth Muscle	Duodenum

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