Variant report

Variant	rs8744
Chromosome Location	chr12:74934743-74934744
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:74931200-74936073	HepG2	liver:	n/a	n/a
2	POLR2A	chr12:74934696-74934768	ProgFib	skin:	n/a	n/a
3	POLR2A	chr12:74931110-74940575	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr12:74931116-74935658	SK-N-MC	brain:	n/a	n/a
5	POLR2A	chr12:74931201-74935166	GM12878	blood:	n/a	n/a
6	POLR2A	chr12:74934609-74936061	HepG2	liver:	n/a	n/a
7	WRNIP1	chr12:74931153-74935222	GM12878	blood:	n/a	n/a
8	GTF2F1	chr12:74934626-74934749	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr12:74931126-74935588	GM12878	blood:	n/a	n/a
10	POLR2A	chr12:74932912-74937655	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr12:74934609-74937472	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr12:74931035-74936789	IMR90	lung:	n/a	n/a
13	POLR2A	chr12:74932414-74936105	A549	lung:	n/a	n/a
14	POLR2A	chr12:74931091-74937173	GM12891	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:74934644..74937630-chr12:74950063..74952451,3	MCF-7	breast:
2	chr12:74934002..74935915-chr12:74937667..74942932,5	K562	blood:
3	chr12:74933499..74938752-chr12:74938991..74943644,10	K562	blood:
4	chr12:74929601..74933992-chr12:74933997..74938801,8	K562	blood:

No data

Variant related genes	Relation type
ENSG00000257386	TF binding region
ENSG00000257386	Chromatin interaction
ENSG00000253719	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1389492	0.80[AMR][1000 genomes]
rs1493797	0.80[AMR][1000 genomes]
rs1493805	0.80[AMR][1000 genomes]
rs1493806	0.90[CHD][hapmap]
rs2605374	0.95[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2605376	0.95[CEU][hapmap]
rs2605377	0.92[CEU][hapmap];0.93[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2613888	0.80[AMR][1000 genomes]
rs2613895	0.92[CEU][hapmap]
rs2613900	0.95[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2613903	0.92[CEU][hapmap];0.93[CHD][hapmap];0.83[MEX][hapmap];0.82[TSI][hapmap]
rs2641467	0.91[CHD][hapmap]
rs2641468	0.92[CEU][hapmap]
rs597888	0.92[CEU][hapmap];0.88[AMR][1000 genomes]
rs628576	0.92[CEU][hapmap];0.89[AMR][1000 genomes]
rs647129	0.95[AMR][1000 genomes];0.82[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	nsv1039468	chr12:74080586-75000246	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv899293	chr12:74835107-74995760	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv899295	chr12:74854750-74984992	Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv470303	chr12:74880668-74945356	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	n/a
5	nsv899296	chr12:74880668-74974630	Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8744	ATXN7L3B	cis	parietal	SCAN

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:74932000-74935000	Transcr. at gene 5' and 3'	Fetal Lung	lung
2	chr12:74932200-74934800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
3	chr12:74932200-74935200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr12:74932400-74934800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr12:74932400-74934800	Flanking Active TSS	Brain Cingulate Gyrus	brain
6	chr12:74932400-74934800	Flanking Active TSS	Thymus	Thymus
7	chr12:74932400-74935000	Transcr. at gene 5' and 3'	A549	lung
8	chr12:74932400-74935200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr12:74932400-74935200	Transcr. at gene 5' and 3'	Dnd41	blood
10	chr12:74932400-74935400	Transcr. at gene 5' and 3'	NHEK	skin
11	chr12:74932600-74934800	Flanking Active TSS	Fetal Heart	heart
12	chr12:74932600-74934800	Enhancers	Spleen	Spleen
13	chr12:74932600-74935000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
14	chr12:74932600-74935000	Transcr. at gene 5' and 3'	K562	blood
15	chr12:74932600-74935200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr12:74932600-74935200	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr12:74932600-74935600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
18	chr12:74932600-74935800	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
19	chr12:74932800-74934800	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr12:74932800-74934800	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
21	chr12:74932800-74934800	Transcr. at gene 5' and 3'	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr12:74932800-74934800	Transcr. at gene 5' and 3'	Osteobl	bone
23	chr12:74932800-74935000	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr12:74932800-74935000	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
25	chr12:74932800-74935200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr12:74932800-74935400	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
27	chr12:74932800-74936600	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr12:74933000-74935200	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
29	chr12:74933000-74935200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr12:74933000-74935200	Enhancers	Placenta Amnion	Placenta Amnion
31	chr12:74933200-74934800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr12:74933200-74935000	Flanking Active TSS	Colon Smooth Muscle	Colon
33	chr12:74933200-74935200	Genic enhancers	Cortex derived primary cultured neurospheres	brain
34	chr12:74933200-74935200	Genic enhancers	Sigmoid Colon	Sigmoid Colon
35	chr12:74933200-74935400	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
36	chr12:74933200-74935600	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
37	chr12:74933200-74936000	Genic enhancers	Primary B cells from peripheral blood	blood
38	chr12:74933600-74934800	Transcr. at gene 5' and 3'	Primary T helper cells fromperipheralblood	blood
39	chr12:74933600-74934800	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
40	chr12:74933600-74935600	Enhancers	Stomach Mucosa	stomach
41	chr12:74933800-74934800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr12:74933800-74934800	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr12:74933800-74934800	Enhancers	Placenta	Placenta
44	chr12:74933800-74935000	Flanking Active TSS	Rectal Smooth Muscle	rectum
45	chr12:74933800-74935200	Genic enhancers	Primary T cells fromperipheralblood	blood
46	chr12:74933800-74935400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
47	chr12:74933800-74936000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr12:74933800-74936200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr12:74933800-74937000	Weak transcription	Esophagus	oesophagus
50	chr12:74933800-74942800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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