Variant report

Variant	rs1008637
Chromosome Location	chr12:47072016-47072017
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:47058195..47060784-chr12:47071093..47073736,2	MCF-7	breast:
2	chr12:46749668..46752504-chr12:47071021..47072715,2	MCF-7	breast:
3	chr12:46518964..46519481-chr12:47071309..47072150,2	K562	blood:
4	chr12:47060948..47064525-chr12:47070342..47072791,3	MCF-7	breast:
5	chr12:46764550..46767963-chr12:47070058..47075038,6	MCF-7	breast:
6	chr12:46760106..46768771-chr12:47062317..47074742,23	MCF-7	breast:
7	chr12:46774047..46784224-chr12:47066154..47074786,21	MCF-7	breast:
8	chr12:46757591..46759131-chr12:47071589..47074161,2	MCF-7	breast:
9	chr12:46753885..46756732-chr12:47071381..47073599,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000134294	Chromatin interaction
ENSG00000257496	Chromatin interaction
ENSG00000258096	Chromatin interaction
ENSG00000257261	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1971709	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2252238	1.00[CHB][hapmap];0.85[CHD][hapmap];0.92[JPT][hapmap]
rs235605	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2408578	1.00[YRI][hapmap]
rs2429474	0.82[CEU][hapmap]
rs2430922	0.82[CEU][hapmap]
rs2465583	0.82[CEU][hapmap]
rs2465644	0.82[CEU][hapmap]
rs2715779	0.82[CEU][hapmap]
rs4768733	1.00[CHB][hapmap];0.92[JPT][hapmap]
rs4768748	0.80[EUR][1000 genomes]
rs7960142	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7975472	0.81[LWK][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049525	chr12:46721742-47264172	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv541486	chr12:46721742-47264172	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
3	esv3416674	chr12:46988689-47178369	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv558783	chr12:46996632-47144856	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv1844378	chr12:47028797-47072016	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	esv1845143	chr12:47051076-47431496	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1008637	DBX2	cis	parietal	SCAN

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47059600-47076800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr12:47059800-47076600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr12:47065200-47076200	Weak transcription	Psoas Muscle	Psoas
4	chr12:47067400-47072200	Enhancers	Hela-S3	cervix
5	chr12:47067600-47072200	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr12:47067600-47072400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:47067800-47072200	Enhancers	Muscle Satellite Cultured Cells	--
8	chr12:47069600-47072400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:47069800-47072400	Flanking Active TSS	NHEK	skin
10	chr12:47070000-47072600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr12:47070000-47077400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr12:47070400-47072400	Enhancers	A549	lung
13	chr12:47070600-47072200	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr12:47071000-47080600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr12:47071200-47074800	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr12:47071600-47072400	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr12:47071600-47073800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr12:47071600-47074000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr12:47071600-47074000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr12:47071800-47074000	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr12:47071800-47074200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr12:47071800-47074400	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr12:47071800-47077400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr12:47072000-47072200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr12:47072000-47072400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr12:47072000-47072400	Flanking Active TSS	HMEC	breast
27	chr12:47072000-47073600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr12:47072000-47073800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr12:47072000-47074000	Weak transcription	HSMM	muscle
30	chr12:47072000-47076000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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