Variant report

Variant	rs11012955
Chromosome Location	chr10:22631688-22631689
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:22631574-22631720	K562	blood:	n/a	n/a
2	POLR2A	chr10:22622616-22631897	H1-neurons	neurons:	n/a	n/a
3	POLR2A	chr10:22631040-22632062	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr10:22630288-22631843	H1-neurons	neurons:	n/a	n/a
5	TCF12	chr10:22631547-22631727	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr10:22628943-22633359	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:22630207..22631938-chr10:22648139..22650468,2	K562	blood:
2	chr10:22629399..22631844-chr10:22647631..22650526,2	MCF-7	breast:
3	chr10:22630509..22632055-chr10:22645156..22646735,2	K562	blood:
4	chr10:22630133..22633021-chr10:22824543..22827360,3	K562	blood:
5	chr10:22630828..22632361-chr10:23344355..23345982,2	K562	blood:
6	chr10:22629979..22632495-chr10:22664111..22666228,2	K562	blood:
7	chr10:22608172..22617536-chr10:22624000..22632852,24	MCF-7	breast:
8	chr10:22519765..22522159-chr10:22629755..22632130,2	K562	blood:
9	chr10:22628696..22632444-chr10:22679412..22682265,6	K562	blood:

No data

Variant related genes	Relation type
SPAG6	TF binding region
ENSG00000272366	TF binding region
ENSG00000077327	Chromatin interaction
ENSG00000168283	Chromatin interaction
ENSG00000233451	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10828303	0.92[YRI][hapmap];0.84[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs10828304	0.87[YRI][hapmap];0.83[AMR][1000 genomes]
rs11012938	0.86[YRI][hapmap];0.84[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11012939	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11012941	0.90[YRI][hapmap];0.84[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11012942	0.89[YRI][hapmap];0.84[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11012953	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11012956	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11012958	1.00[YRI][hapmap]
rs11012960	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11012961	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11012965	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11012967	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11012973	1.00[AMR][1000 genomes]
rs12240474	0.87[YRI][hapmap]
rs12240495	0.91[YRI][hapmap];0.84[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12240577	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12245533	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12254277	0.83[AMR][1000 genomes]
rs12255961	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12257095	0.85[YRI][hapmap]
rs12257451	0.85[YRI][hapmap];0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12258156	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12259102	1.00[YRI][hapmap]
rs12263397	0.83[YRI][hapmap];0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12263441	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12263897	0.85[AMR][1000 genomes]
rs16922163	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs16922183	0.87[YRI][hapmap];0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2026632	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6482207	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7069551	0.91[YRI][hapmap];0.84[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7071244	0.92[YRI][hapmap];0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7072756	0.91[YRI][hapmap];0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7073046	0.92[YRI][hapmap];0.84[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7073585	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7080076	0.91[YRI][hapmap];0.85[AFR][1000 genomes]
rs7082672	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7083243	1.00[AMR][1000 genomes]
rs7085030	0.85[AMR][1000 genomes]
rs7085161	0.85[AMR][1000 genomes]
rs7086440	0.91[YRI][hapmap];0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7088499	0.85[YRI][hapmap];0.83[AMR][1000 genomes]
rs729111	0.85[YRI][hapmap];0.83[AMR][1000 genomes]
rs7893841	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7900105	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7904484	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7913881	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7916150	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv825292	chr10:22560347-22642200	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv825293	chr10:22575226-22637618	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv825294	chr10:22590627-22644910	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv825295	chr10:22591275-22643207	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv825296	chr10:22591339-22638994	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv894950	chr10:22591830-22639903	Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	nsv894956	chr10:22594765-22633193	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
8	nsv894957	chr10:22594765-22637381	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
9	esv1816646	chr10:22594765-22639707	Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
10	nsv894958	chr10:22594765-22639903	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
11	nsv825297	chr10:22596793-22637576	Bivalent Enhancer Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
12	nsv825299	chr10:22596793-22638994	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:22630400-22634000	Weak transcription	Gastric	stomach
2	chr10:22630400-22634000	Weak transcription	Spleen	Spleen
3	chr10:22630600-22634000	Weak transcription	Aorta	Aorta
4	chr10:22631600-22631800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell

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