Variant report

Variant	rs875767
Chromosome Location	chr15:40707456-40707457
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	POLR2A	chr15:40707439-40708031	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr15:40707135-40708482	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:40697487..40700502-chr15:40704344..40708003,4	K562	blood:
2	chr15:40696493..40699677-chr15:40705258..40709114,5	MCF-7	breast:
3	chr15:40702415..40703948-chr15:40706457..40708796,2	K562	blood:
4	chr15:40702565..40704374-chr15:40706518..40708140,2	MCF-7	breast:

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

Extended variants
information (count: 29 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs11541641	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.96[TSI][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11541643	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.96[TSI][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12185076	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16970653	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.96[TSI][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16970660	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2229312	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28379196	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6492944	1.00[CHB][hapmap];0.94[EUR][1000 genomes]
rs68169695	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7176592	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.96[TSI][hapmap];0.94[EUR][1000 genomes]
rs7177949	1.00[CHB][hapmap];0.94[EUR][1000 genomes]
rs72733427	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	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72733444	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72733445	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72733449	0.94[EUR][1000 genomes]
rs72733450	0.94[EUR][1000 genomes]
rs72733453	0.94[EUR][1000 genomes]
rs73383135	0.88[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	1.00[CHB][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8032114	1.00[CHB][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8036457	1.00[CHB][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8037941	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.96[TSI][hapmap];0.94[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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs875767	C15orf23	Cis_1M	lymphoblastoid	RTeQTL
rs875767	CCDC32	Cis_1M	lymphoblastoid	RTeQTL
rs875767	IVD	Cis_1M	lymphoblastoid	RTeQTL

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	chr15:40698800-40707600	Weak transcription	NHEK	skin
3	chr15:40698800-40709600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr15:40699000-40714000	Weak transcription	Small Intestine	intestine
5	chr15:40699600-40710000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr15:40699600-40710800	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr15:40699600-40710800	Strong transcription	Primary T cells from cord blood	blood
8	chr15:40699600-40711000	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr15:40699600-40711000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
10	chr15:40699600-40711000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr15:40699600-40711200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr15:40699600-40712400	Weak transcription	Right Atrium	heart
13	chr15:40699600-40714000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr15:40699800-40709000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
15	chr15:40699800-40709200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr15:40699800-40709200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr15:40699800-40710800	Strong transcription	NHLF	lung
18	chr15:40699800-40711000	Strong transcription	H9 Cell Line	embryonic stem cell
19	chr15:40699800-40711000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr15:40699800-40711000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr15:40699800-40711000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr15:40699800-40711000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr15:40699800-40711000	Strong transcription	Muscle Satellite Cultured Cells	--
24	chr15:40699800-40711000	Strong transcription	Skeletal Muscle Male	skeletal muscle
25	chr15:40699800-40711000	Strong transcription	Skeletal Muscle Female	skeletal muscle
26	chr15:40699800-40711000	Strong transcription	Osteobl	bone
27	chr15:40699800-40711400	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr15:40699800-40712400	Strong transcription	Fetal Stomach	stomach
29	chr15:40700000-40708400	Strong transcription	Rectal Smooth Muscle	rectum
30	chr15:40700000-40710600	Strong transcription	HSMM	muscle
31	chr15:40700000-40710800	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr15:40700000-40710800	Strong transcription	Fetal Thymus	thymus
33	chr15:40700000-40711000	Strong transcription	H1 Cell Line	embryonic stem cell
34	chr15:40700000-40711000	Strong transcription	Left Ventricle	heart
35	chr15:40700000-40711000	Strong transcription	Lung	lung
36	chr15:40700000-40711400	Strong transcription	Fetal Muscle Leg	muscle
37	chr15:40700000-40711800	Strong transcription	Thymus	Thymus
38	chr15:40700000-40712200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr15:40700000-40712600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr15:40700200-40710800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr15:40700200-40711000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr15:40700200-40711000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr15:40700200-40711000	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr15:40700200-40711000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr15:40700200-40711000	Strong transcription	Ovary	ovary
46	chr15:40700200-40711200	Strong transcription	Fetal Muscle Trunk	muscle
47	chr15:40700200-40711400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr15:40700200-40711400	Strong transcription	Stomach Smooth Muscle	stomach
49	chr15:40700200-40712600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr15:40700400-40708000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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