Variant report

Variant	rs2186596
Chromosome Location	chr11:66078844-66078845
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:66078730-66078892	K562	blood:	n/a	n/a
2	CTCF	chr11:66078820-66078970	BE2_C	brain:	n/a	n/a
3	CTCF	chr11:66078700-66078850	HBMEC	blood vessel:	n/a	n/a
4	HCFC1	chr11:66078819-66081031	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr11:66076659-66086103	IMR90	lung:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:66078628..66080981-chr11:66247770..66249627,2	K562	blood:
2	chr11:66077296..66081246-chr11:66109722..66112526,4	K562	blood:
3	chr11:66077376..66081785-chr11:66101114..66107038,7	MCF-7	breast:
4	chr11:66078215..66080508-chr11:66113999..66115962,2	K562	blood:
5	chr11:66078237..66081093-chr11:66098609..66103641,6	K562	blood:
6	chr11:66070320..66072378-chr11:66078030..66080225,2	K562	blood:
7	chr11:66054404..66057808-chr11:66078165..66081775,4	MCF-7	breast:
8	chr11:66064946..66066447-chr11:66077154..66079441,2	K562	blood:
9	chr11:66077617..66079568-chr11:66109722..66112583,2	K562	blood:
10	chr11:66078412..66081908-chr11:66138198..66140974,6	K562	blood:
11	chr11:66055377..66058165-chr11:66078171..66080132,2	K562	blood:
12	chr11:66077239..66082197-chr11:66111995..66115447,5	MCF-7	breast:
13	chr11:66024193..66026302-chr11:66078513..66080542,2	K562	blood:
14	chr11:66053947..66059144-chr11:66077550..66083439,18	K562	blood:

No data

Variant related genes	Relation type
ENSG00000254458	TF binding region
ENSG00000255468	Chromatin interaction
ENSG00000254756	Chromatin interaction
ENSG00000254986	Chromatin interaction
ENSG00000174744	Chromatin interaction
ENSG00000174669	Chromatin interaction
ENSG00000174791	Chromatin interaction
ENSG00000174851	Chromatin interaction
ENSG00000174996	Chromatin interaction
ENSG00000174684	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1190621	0.86[ASN][1000 genomes]
rs1190623	0.86[ASN][1000 genomes]
rs1212135	0.82[ASN][1000 genomes]
rs12575699	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3016311	0.86[ASN][1000 genomes]
rs3016316	0.80[ASN][1000 genomes]
rs3016317	0.80[ASN][1000 genomes]
rs4390351	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59651473	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7950463	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	esv3407551	chr11:65794503-66158322	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	esv3392427	chr11:65981489-66273695	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
4	nsv897771	chr11:66011280-66362997	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
5	nsv897772	chr11:66018155-66254085	Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2186596	RP11-867G23.12	cis	Whole Blood	GTEx
rs2186596	RIN1	cis	Whole Blood	GTEx

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66064800-66079200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr11:66077400-66079200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr11:66077400-66079200	Enhancers	K562	blood
4	chr11:66077600-66079400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr11:66077800-66079000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr11:66078600-66079000	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr11:66078600-66079000	Enhancers	Hela-S3	cervix
8	chr11:66078600-66079200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr11:66078600-66079200	Enhancers	H1 Cell Line	embryonic stem cell
10	chr11:66078600-66079200	Enhancers	A549	lung
11	chr11:66078600-66079200	Enhancers	GM12878-XiMat	blood
12	chr11:66078600-66079200	Flanking Active TSS	HepG2	liver
13	chr11:66078600-66079400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr11:66078600-66079400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr11:66078600-66079400	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr11:66078600-66079400	Enhancers	Placenta	Placenta
17	chr11:66078600-66079400	Enhancers	Fetal Thymus	thymus
18	chr11:66078800-66079000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr11:66078800-66079000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr11:66078800-66079200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr11:66078800-66079200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr11:66078800-66079200	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr11:66078800-66079200	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr11:66078800-66079200	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr11:66078800-66079200	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr11:66078800-66079200	Enhancers	Primary B cells from peripheral blood	blood
27	chr11:66078800-66079200	Enhancers	Primary T cells fromperipheralblood	blood
28	chr11:66078800-66079400	Enhancers	Fetal Muscle Leg	muscle

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