Variant report

Variant	rs7102392
Chromosome Location	chr11:71824808-71824809
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:71822004-71824821	GM12892	blood:	n/a	n/a
2	POLR2A	chr11:71822414-71824888	PANC-1	pancreas:	n/a	n/a
3	MTA3	chr11:71822263-71824835	GM12878	blood:	n/a	n/a
4	SMC3	chr11:71824612-71824812	GM12878	blood:	n/a	n/a
5	POLR2A	chr11:71822369-71824831	MCF10A-Er-Src	breast:	n/a	n/a
6	RCOR1	chr11:71822094-71824845	IMR90	lung:	n/a	n/a
7	POLR2A	chr11:71822333-71824817	HUVEC	blood vessel:	n/a	n/a
8	POLR2A	chr11:71822949-71824858	PANC-1	pancreas:	n/a	n/a
9	POLR2A	chr11:71821953-71824877	GM12878	blood:	n/a	n/a
10	E2F4	chr11:71824747-71824875	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr11:71824780-71824814	HepG2	liver:	n/a	n/a
12	FAM48A	chr11:71824802-71824918	GM12878	blood:	n/a	n/a
13	GATA3	chr11:71824642-71824842	SH-SY5Y	brain:	n/a	n/a
14	POLR2A	chr11:71824281-71824852	ECC-1	luminal epithelium:	n/a	n/a
15	POLR2A	chr11:71822083-71824896	SK-N-MC	brain:	n/a	n/a
16	POLR2A	chr11:71822077-71824871	H1-hESC	embryonic stem cell:	n/a	n/a
17	SIN3AK20	chr11:71822717-71824877	MCF-7	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:71780985..71784804-chr11:71822969..71825529,4	K562	blood:
2	chr11:71823336..71825069-chr11:71869762..71871942,2	K562	blood:
3	chr11:71778482..71780847-chr11:71823918..71825568,2	MCF-7	breast:
4	chr11:71749172..71754555-chr11:71820034..71825981,11	MCF-7	breast:
5	chr11:71822104..71825137-chr11:71839409..71842719,3	K562	blood:
6	chr11:71821479..71826547-chr11:71844956..71851162,6	K562	blood:
7	chr11:71822132..71825937-chr11:71933388..71938158,5	MCF-7	breast:
8	chr11:71823487..71825907-chr11:71932451..71935590,3	K562	blood:

No data

Variant related genes	Relation type
FOLR3	TF binding region
ANAPC15	TF binding region
ENSG00000256518	Chromatin interaction
ENSG00000137497	Chromatin interaction
ENSG00000263742	Chromatin interaction
ENSG00000110203	Chromatin interaction
ENSG00000165458	Chromatin interaction
ENSG00000257075	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10400327	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.85[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1892922	0.82[ASW][hapmap];0.92[LWK][hapmap];0.87[MKK][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs2096784	1.00[ASW][hapmap];1.00[LWK][hapmap];0.85[MKK][hapmap];0.85[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57198333	1.00[AMR][1000 genomes]
rs5743667	0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs5743673	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.93[YRI][hapmap];1.00[AMR][1000 genomes]
rs5743683	1.00[AMR][1000 genomes]
rs5743684	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs58109845	1.00[AMR][1000 genomes]
rs58569034	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58860532	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58986282	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59603657	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59704482	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60401386	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60840528	1.00[AMR][1000 genomes]
rs61225837	1.00[AMR][1000 genomes]
rs7110215	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7925196	1.00[AMR][1000 genomes]
rs7932163	0.85[YRI][hapmap]
rs7945535	0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs7949845	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7102392	AHSP	trans	lymphoblastoid	seeQTL

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71823800-71826600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:71824200-71826000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr11:71824200-71827200	Enhancers	NHDF-Ad	bronchial
4	chr11:71824400-71825000	Enhancers	K562	blood
5	chr11:71824400-71825200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr11:71824400-71825400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr11:71824400-71825400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr11:71824400-71826000	Enhancers	NHLF	lung
9	chr11:71824400-71826000	Enhancers	Osteobl	bone
10	chr11:71824400-71827400	Enhancers	HMEC	breast
11	chr11:71824600-71825400	Enhancers	NHEK	skin
12	chr11:71824600-71825600	Weak transcription	Colon Smooth Muscle	Colon
13	chr11:71824600-71825800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr11:71824600-71828400	Weak transcription	Brain Hippocampus Middle	brain
15	chr11:71824600-71829000	Weak transcription	Right Atrium	heart
16	chr11:71824600-71829400	Weak transcription	Duodenum Mucosa	Duodenum
17	chr11:71824600-71829400	Weak transcription	Stomach Mucosa	stomach
18	chr11:71824600-71829800	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr11:71824600-71830200	Weak transcription	Primary hematopoietic stem cells	blood
20	chr11:71824800-71825000	Enhancers	Dnd41	blood
21	chr11:71824800-71825200	Enhancers	Hela-S3	cervix
22	chr11:71824800-71825200	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr11:71824800-71825800	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr11:71824800-71825800	Weak transcription	HSMM	muscle
25	chr11:71824800-71826000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr11:71824800-71826800	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr11:71824800-71829400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr11:71824800-71830000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr11:71824800-71834600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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