Variant report

Variant	rs12081088
Chromosome Location	chr1:171625322-171625323
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:171625220-171625370	GM12871	blood:	n/a	n/a
2	CTCF	chr1:171624490-171625656	A549	lung:	n/a	chr1:171624822-171624838 chr1:171625184-171625202 chr1:171624824-171624837 chr1:171624821-171624839 chr1:171624826-171624836

No.	Distal block	Cell Line	Cell type
1	chr1:171624621..171625330-chr1:171953992..171954655,2	K562	blood:
2	chr1:171453576..171455462-chr1:171624270..171626340,2	K562	blood:
3	chr1:171618444..171621917-chr1:171624017..171626963,3	K562	blood:
4	chr1:171624400..171625332-chr1:171684735..171685281,3	K562	blood:
5	chr1:171623874..171626323-chr1:171708681..171711250,2	K562	blood:

Variant related genes	Relation type
MYOC	TF binding region
ENSG00000034971	Chromatin interaction
ENSG00000117523	Chromatin interaction
ENSG00000117533	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10157503	1.00[CEU][hapmap]
rs10157510	1.00[CEU][hapmap]
rs10158135	1.00[CEU][hapmap]
rs10913372	1.00[ASN][1000 genomes]
rs10913576	1.00[CEU][hapmap]
rs10913593	1.00[CEU][hapmap]
rs11580526	1.00[ASN][1000 genomes]
rs12061738	1.00[CEU][hapmap]
rs12062113	0.90[EUR][1000 genomes]
rs12067353	1.00[CEU][hapmap]
rs12067531	1.00[CEU][hapmap]
rs12081515	1.00[CEU][hapmap]
rs61730974	1.00[ASN][1000 genomes]
rs72717810	1.00[ASN][1000 genomes]
rs72717818	1.00[ASN][1000 genomes]
rs72717823	1.00[ASN][1000 genomes]
rs7511865	1.00[CEU][hapmap]

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	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	esv12447	chr1:171556291-171726822	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv872544	chr1:171616822-171654968	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171620400-171627600	Enhancers	Fetal Muscle Leg	muscle
2	chr1:171621000-171625800	Enhancers	Fetal Stomach	stomach
3	chr1:171623000-171625400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr1:171623400-171625400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:171623400-171626000	Enhancers	Fetal Intestine Large	intestine
6	chr1:171623600-171625400	Enhancers	Colonic Mucosa	Colon
7	chr1:171623600-171625400	Enhancers	Right Ventricle	heart
8	chr1:171623600-171625800	Enhancers	Left Ventricle	heart
9	chr1:171623800-171626000	Enhancers	Fetal Muscle Trunk	muscle
10	chr1:171624000-171625400	Enhancers	Stomach Mucosa	stomach
11	chr1:171624200-171625400	Enhancers	A549	lung
12	chr1:171624200-171630400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:171624600-171625400	Enhancers	Duodenum Mucosa	Duodenum
14	chr1:171624600-171635200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr1:171624800-171625400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:171624800-171625400	Enhancers	Right Atrium	heart
17	chr1:171624800-171625400	Enhancers	Osteobl	bone
18	chr1:171624800-171625800	Weak transcription	Lung	lung
19	chr1:171624800-171626000	Enhancers	Adipose Nuclei	Adipose
20	chr1:171624800-171626000	Enhancers	Fetal Intestine Small	intestine
21	chr1:171624800-171629400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr1:171624800-171633200	Weak transcription	Psoas Muscle	Psoas
23	chr1:171625000-171625400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr1:171625000-171627200	Enhancers	Fetal Heart	heart
25	chr1:171625000-171627400	Weak transcription	Ovary	ovary
26	chr1:171625200-171625400	Enhancers	HUVEC	blood vessel
27	chr1:171625200-171625600	Enhancers	Stomach Smooth Muscle	stomach
28	chr1:171625200-171633400	Weak transcription	Skeletal Muscle Male	skeletal muscle

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