Variant report

Variant	rs2229312
Chromosome Location	chr15:40705225-40705226
allele	C/T
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	REST	chr15:40705211-40705623	ECC-1	luminal epithelium:	n/a	chr15:40705437-40705446 chr15:40705439-40705446
2	POLR2A	chr15:40704571-40705232	GM12892	blood:	n/a	n/a
3	REST	chr15:40705213-40705599	PFSK-1	brain:	n/a	chr15:40705437-40705446 chr15:40705439-40705446
4	REST	chr15:40705174-40705725	HL-60	blood:	n/a	chr15:40705437-40705446 chr15:40705439-40705446
5	REST	chr15:40705218-40705644	PANC-1	pancreas:	n/a	chr15:40705437-40705446 chr15:40705439-40705446

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:40697487..40700502-chr15:40704344..40708003,4	K562	blood:

Variant related genes	Relation type
IVD	TF binding region
ENSG00000128928	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11541641	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11541643	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12185076	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16970653	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16970660	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28379196	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6492944	0.94[EUR][1000 genomes]
rs68169695	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7176592	0.94[EUR][1000 genomes]
rs7177949	0.94[EUR][1000 genomes]
rs72733427	0.82[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs72733428	0.94[EUR][1000 genomes]
rs72733434	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72733437	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72733442	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72733444	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72733445	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72733449	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72733450	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72733453	0.94[EUR][1000 genomes]
rs73383135	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8031814	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8031994	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8032114	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8036457	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8037941	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs875767	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34145	chr15:40549617-40889824	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv510660	chr15:40552906-40721883	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40698600-40712400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr15:40698800-40707000	Weak transcription	Psoas Muscle	Psoas
3	chr15:40698800-40707600	Weak transcription	NHEK	skin
4	chr15:40698800-40709600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr15:40699000-40714000	Weak transcription	Small Intestine	intestine
6	chr15:40699600-40710000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr15:40699600-40710800	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr15:40699600-40710800	Strong transcription	Primary T cells from cord blood	blood
9	chr15:40699600-40711000	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr15:40699600-40711000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
11	chr15:40699600-40711000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr15:40699600-40711200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr15:40699600-40712400	Weak transcription	Right Atrium	heart
14	chr15:40699600-40714000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr15:40699800-40709000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
16	chr15:40699800-40709200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr15:40699800-40709200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr15:40699800-40710800	Strong transcription	NHLF	lung
19	chr15:40699800-40711000	Strong transcription	H9 Cell Line	embryonic stem cell
20	chr15:40699800-40711000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr15:40699800-40711000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr15:40699800-40711000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr15:40699800-40711000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr15:40699800-40711000	Strong transcription	Muscle Satellite Cultured Cells	--
25	chr15:40699800-40711000	Strong transcription	Skeletal Muscle Male	skeletal muscle
26	chr15:40699800-40711000	Strong transcription	Skeletal Muscle Female	skeletal muscle
27	chr15:40699800-40711000	Strong transcription	Osteobl	bone
28	chr15:40699800-40711400	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr15:40699800-40712400	Strong transcription	Fetal Stomach	stomach
30	chr15:40700000-40705800	Strong transcription	NHDF-Ad	bronchial
31	chr15:40700000-40708400	Strong transcription	Rectal Smooth Muscle	rectum
32	chr15:40700000-40710600	Strong transcription	HSMM	muscle
33	chr15:40700000-40710800	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr15:40700000-40710800	Strong transcription	Fetal Thymus	thymus
35	chr15:40700000-40711000	Strong transcription	H1 Cell Line	embryonic stem cell
36	chr15:40700000-40711000	Strong transcription	Left Ventricle	heart
37	chr15:40700000-40711000	Strong transcription	Lung	lung
38	chr15:40700000-40711400	Strong transcription	Fetal Muscle Leg	muscle
39	chr15:40700000-40711800	Strong transcription	Thymus	Thymus
40	chr15:40700000-40712200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr15:40700000-40712600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr15:40700200-40706800	Weak transcription	Fetal Heart	heart
43	chr15:40700200-40710800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr15:40700200-40711000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr15:40700200-40711000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr15:40700200-40711000	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr15:40700200-40711000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr15:40700200-40711000	Strong transcription	Ovary	ovary
49	chr15:40700200-40711200	Strong transcription	Fetal Muscle Trunk	muscle
50	chr15:40700200-40711400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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