Variant report

Variant	rs17618789
Chromosome Location	chr12:59319761-59319762
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:59316988..59319843-chr12:59408494..59410579,2	MCF-7	breast:
2	chr12:59312484..59315022-chr12:59317333..59320993,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257443	Chromatin interaction
ENSG00000139263	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10735877	1.00[CHB][hapmap]
rs17121768	0.90[ASN][1000 genomes]
rs4760146	0.90[ASN][1000 genomes]
rs4760248	1.00[ASN][1000 genomes]
rs56042852	0.80[ASN][1000 genomes]
rs56225528	0.96[ASN][1000 genomes]
rs56299412	0.90[ASN][1000 genomes]
rs56376361	0.90[ASN][1000 genomes]
rs59263143	0.80[ASN][1000 genomes]
rs767773	0.90[ASN][1000 genomes]
rs7955499	0.83[ASN][1000 genomes]
rs9668093	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	esv2758311	chr12:59022729-59323045	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	esv2759902	chr12:59022729-59323045	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv1043385	chr12:59149582-59758952	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv1067596	chr12:59167152-59764208	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv492251	chr12:59167152-59764208	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:59315200-59320200	Enhancers	Rectal Mucosa Donor 31	rectum
2	chr12:59315400-59320200	Enhancers	Fetal Intestine Large	intestine
3	chr12:59315400-59320800	Enhancers	Fetal Intestine Small	intestine
4	chr12:59315400-59320800	Weak transcription	Fetal Muscle Leg	muscle
5	chr12:59316200-59319800	Enhancers	Hela-S3	cervix
6	chr12:59317200-59324800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr12:59318400-59320000	Enhancers	Fetal Heart	heart
8	chr12:59318400-59320000	Enhancers	Stomach Mucosa	stomach
9	chr12:59318400-59320800	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr12:59318600-59319800	Enhancers	NH-A	brain
11	chr12:59318600-59320000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr12:59318600-59320200	Enhancers	Fetal Lung	lung
13	chr12:59318800-59319800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:59318800-59319800	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr12:59318800-59319800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr12:59318800-59319800	Flanking Active TSS	HUVEC	blood vessel
17	chr12:59318800-59320000	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr12:59319000-59320000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr12:59319000-59320000	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr12:59319000-59320800	Active TSS	Duodenum Mucosa	Duodenum
21	chr12:59319200-59319800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr12:59319200-59319800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:59319200-59320000	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr12:59319200-59324400	Weak transcription	Osteobl	bone
25	chr12:59319400-59320000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr12:59319400-59320400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr12:59319400-59320800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr12:59319600-59319800	Enhancers	Pancreas	Pancrea
29	chr12:59319600-59319800	Enhancers	Rectal Mucosa Donor 29	rectum
30	chr12:59319600-59319800	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr12:59319600-59320000	Enhancers	Colonic Mucosa	Colon

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