Variant report

Variant	rs7175950
Chromosome Location	chr15:78236353-78236354
allele	A/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	POLR2A	chr15:78235982-78236428	GM12878	blood:	n/a	n/a
2	NR3C1	chr15:78235974-78236411	A549	lung:	n/a	n/a
3	NR3C1	chr15:78235831-78236358	A549	lung:	n/a	n/a
4	POLR2A	chr15:78236343-78237293	NB4	blood:	n/a	n/a
5	POLR2A	chr15:78236008-78237423	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr15:78235646-78237325	HepG2	liver:	n/a	n/a
7	POLR2A	chr15:78236260-78237427	SK-N-MC	brain:	n/a	n/a
8	POLR2A	chr15:78236327-78237323	K562	blood:	n/a	n/a
9	POLR2A	chr15:78236223-78237230	HepG2	liver:	n/a	n/a
10	POLR2A	chr15:78235991-78237158	HepG2	liver:	n/a	n/a
11	MAZ	chr15:78236342-78237226	IMR90	lung:	n/a	chr15:78236998-78237008 chr15:78236656-78236666
12	MYC	chr15:78236323-78237134	NB4	blood:	n/a	chr15:78236998-78237008 chr15:78236656-78236666

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:78232364..78235120-chr15:78235300..78238762,3	K562	blood:

Variant related genes	Relation type
ENSG00000214646	TF binding region
ENSG00000214646	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11629945	0.89[CEU][hapmap]
rs11630788	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11635760	0.89[CEU][hapmap];0.85[CHD][hapmap];0.81[JPT][hapmap]
rs12899446	0.89[CEU][hapmap];0.91[CHB][hapmap];0.94[CHD][hapmap];0.85[ASN][1000 genomes]
rs12907152	0.85[CEU][hapmap];0.86[MEX][hapmap]
rs12908180	0.86[CEU][hapmap]
rs12908306	0.80[CEU][hapmap]
rs35271886	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3902971	0.80[CEU][hapmap]
rs60257193	0.96[AFR][1000 genomes]
rs62008592	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs62008593	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62008594	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7175698	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1806097	chr15:77817889-78301377	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv529491	chr15:77932659-78751516	Genic enhancers Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
3	esv1833316	chr15:78081307-78328108	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv904426	chr15:78090630-78264164	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv904427	chr15:78129964-78251431	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv976954	chr15:78153346-78255825	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv904429	chr15:78160362-78251431	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs7175950	RP11-114H24.2	cis	Artery Aorta	GTEx
rs7175950	RP11-114H24.2	cis	Muscle Skeletal	GTEx
rs7175950	RP11-114H24.2	cis	Heart Left Ventricle	GTEx
rs7175950	RP11-114H24.2	cis	Artery Tibial	GTEx
rs7175950	RP11-114H24.2	cis	Thyroid	GTEx
rs7175950	RP11-114H24.2	cis	Esophagus Muscularis	GTEx
rs7175950	RP11-114H24.2	cis	lung	GTEx
rs7175950	RP11-114H24.2	cis	Nerve Tibial	GTEx
rs7175950	IDH3A	cis	cerebellum	SCAN

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78231400-78236400	Weak transcription	Placenta	Placenta
2	chr15:78231600-78236400	Weak transcription	HSMM	muscle
3	chr15:78231800-78236400	Weak transcription	Fetal Lung	lung
4	chr15:78232200-78236400	Weak transcription	HSMMtube	muscle
5	chr15:78233000-78236400	Weak transcription	Fetal Intestine Large	intestine
6	chr15:78233000-78236800	Weak transcription	Esophagus	oesophagus
7	chr15:78235200-78236400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr15:78236000-78236400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr15:78236000-78236400	Enhancers	Brain Anterior Caudate	brain
10	chr15:78236000-78236600	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr15:78236000-78236600	Flanking Active TSS	HepG2	liver
12	chr15:78236200-78236400	Enhancers	H1 Cell Line	embryonic stem cell
13	chr15:78236200-78236400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr15:78236200-78236400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
15	chr15:78236200-78236400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr15:78236200-78236400	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr15:78236200-78236400	Enhancers	Primary B cells from peripheral blood	blood
18	chr15:78236200-78236400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
19	chr15:78236200-78236400	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr15:78236200-78236400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr15:78236200-78236400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr15:78236200-78236400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr15:78236200-78236400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr15:78236200-78236400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr15:78236200-78236400	Enhancers	Fetal Intestine Small	intestine
26	chr15:78236200-78236400	Enhancers	Fetal Muscle Trunk	muscle
27	chr15:78236200-78236400	Enhancers	Left Ventricle	heart
28	chr15:78236200-78236400	Enhancers	Ovary	ovary
29	chr15:78236200-78236400	Enhancers	Right Atrium	heart
30	chr15:78236200-78236400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr15:78236200-78236400	Enhancers	Spleen	Spleen
32	chr15:78236200-78236400	Enhancers	K562	blood
33	chr15:78236200-78236600	Flanking Active TSS	H9 Cell Line	embryonic stem cell
34	chr15:78236200-78236600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
35	chr15:78236200-78236600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
36	chr15:78236200-78236600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
37	chr15:78236200-78236600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr15:78236200-78236600	Flanking Active TSS	Adipose Nuclei	Adipose
39	chr15:78236200-78236600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
40	chr15:78236200-78236600	Enhancers	Fetal Stomach	stomach
41	chr15:78236200-78236600	Flanking Active TSS	Stomach Smooth Muscle	stomach
42	chr15:78236200-78236800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr15:78236200-78236800	Flanking Active TSS	Fetal Muscle Leg	muscle
44	chr15:78236200-78237000	Active TSS	Monocytes-CD14+_RO01746	blood
45	chr15:78236200-78237200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr15:78236200-78237200	Active TSS	Liver	Liver
47	chr15:78236200-78237400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr15:78236200-78237400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr15:78236200-78237400	Active TSS	Brain Angular Gyrus	brain
50	chr15:78236200-78237400	Active TSS	Brain Cingulate Gyrus	brain

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