Variant report

Variant	rs2113607
Chromosome Location	chr2:86597176-86597177
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:86420778..86424048-chr2:86595325..86598515,3	MCF-7	breast:
2	chr2:86572451..86574129-chr2:86595066..86597224,2	K562	blood:
3	chr2:86421063..86423710-chr2:86595515..86598426,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000273080	Chromatin interaction
ENSG00000132305	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10169091	1.00[JPT][hapmap]
rs10178917	1.00[ASN][1000 genomes]
rs10180036	0.85[CHB][hapmap];0.87[JPT][hapmap]
rs1113169	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11678201	0.82[EUR][1000 genomes]
rs11687162	0.89[CEU][hapmap]
rs11903855	0.88[CEU][hapmap]
rs12617075	1.00[CHB][hapmap];0.87[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.93[ASN][1000 genomes]
rs12714181	0.88[JPT][hapmap];0.83[ASN][1000 genomes]
rs12714186	0.85[CHB][hapmap];0.87[JPT][hapmap];0.83[MEX][hapmap]
rs13035266	0.93[ASN][1000 genomes]
rs13383096	0.90[ASN][1000 genomes]
rs2292887	0.85[CHB][hapmap];0.87[JPT][hapmap];0.83[MEX][hapmap]
rs4832278	1.00[CEU][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];0.88[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4832279	0.91[ASN][1000 genomes]
rs4832280	0.91[ASN][1000 genomes]
rs4832282	1.00[CHB][hapmap];0.87[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.93[ASN][1000 genomes]
rs6713586	0.92[CEU][hapmap];0.82[CHB][hapmap];0.80[GIH][hapmap];0.87[MEX][hapmap]
rs6756146	0.92[CEU][hapmap]
rs766285	0.94[JPT][hapmap]
rs908791	0.93[ASN][1000 genomes]
rs958561	0.85[CHB][hapmap];0.87[JPT][hapmap];0.83[MEX][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3412938	chr2:86370969-86867936	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs2113607	POLR1A	cis	parietal	SCAN
rs2113607	RNF103	cis	cerebellum	SCAN
rs2113607	KDM3A	cis	cerebellum	SCAN
rs2113607	POLR1A	cis	cerebellum	SCAN
rs2113607	PTCD3	cis	cerebellum	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86595800-86597600	Weak transcription	Fetal Stomach	stomach
2	chr2:86595800-86598800	Weak transcription	Colon Smooth Muscle	Colon
3	chr2:86596000-86597200	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr2:86596000-86598200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr2:86596000-86598200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr2:86596000-86598400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr2:86596000-86598400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr2:86596000-86598600	Weak transcription	Primary hematopoietic stem cells	blood
9	chr2:86596000-86598600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr2:86596000-86598600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr2:86596000-86598600	Weak transcription	Fetal Lung	lung
12	chr2:86596000-86599400	Weak transcription	Lung	lung
13	chr2:86596000-86599600	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr2:86596000-86600200	Weak transcription	Psoas Muscle	Psoas
15	chr2:86596000-86600400	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr2:86596200-86598000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr2:86596200-86598000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr2:86596200-86598600	Enhancers	Primary T cells from cord blood	blood
19	chr2:86596200-86598600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr2:86596400-86597600	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr2:86596400-86598400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr2:86596400-86598600	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr2:86596600-86598000	Weak transcription	Primary T helper cells fromperipheralblood	blood

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