Variant report

Variant	rs7163287
Chromosome Location	chr15:44845245-44845246
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	chr15:44845116-44845344	MCF-7	breast:	n/a	n/a
2	POLR2A	chr15:44845076-44845261	K562	blood:	n/a	n/a
3	POLR2A	chr15:44844713-44845506	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:44843060..44845487-chr15:44846368..44848756,2	MCF-7	breast:

Variant related genes	Relation type
EIF3J	TF binding region
ENSG00000259659	TF binding region
ENSG00000104131	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10152685	0.83[EUR][1000 genomes]
rs10162700	0.83[EUR][1000 genomes]
rs10467977	0.84[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs12324194	0.86[ASN][1000 genomes]
rs12324710	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12591118	0.83[EUR][1000 genomes]
rs12591508	1.00[EUR][1000 genomes]
rs12592447	0.83[EUR][1000 genomes]
rs12592479	0.83[EUR][1000 genomes]
rs12592995	0.88[ASN][1000 genomes]
rs12593125	0.88[ASN][1000 genomes]
rs12593632	0.83[EUR][1000 genomes]
rs12594578	0.83[EUR][1000 genomes]
rs12594746	0.85[ASN][1000 genomes]
rs12594905	0.80[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs12594910	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12594924	0.83[EUR][1000 genomes]
rs12594967	0.83[EUR][1000 genomes]
rs12595838	0.83[EUR][1000 genomes]
rs12911238	0.83[EUR][1000 genomes]
rs2055061	0.81[ASN][1000 genomes]
rs2277610	0.83[EUR][1000 genomes]
rs2288342	0.97[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs2412883	0.87[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2412909	0.99[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs2433350	0.88[ASN][1000 genomes]
rs2555353	0.90[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2556561	0.90[AMR][1000 genomes]
rs2556562	0.89[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2556566	0.84[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2556567	0.88[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs28561508	0.88[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs2899119	0.95[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs35286810	0.83[EUR][1000 genomes]
rs35555389	0.87[ASN][1000 genomes]
rs3752690	0.80[AMR][1000 genomes]
rs3752691	0.85[AMR][1000 genomes]
rs3784565	0.86[ASN][1000 genomes]
rs3784567	0.88[ASN][1000 genomes]
rs3816928	0.87[ASN][1000 genomes]
rs3986142	0.88[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs3986143	0.90[ASN][1000 genomes]
rs4415978	0.86[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs57270586	0.81[ASN][1000 genomes]
rs57488532	0.83[EUR][1000 genomes]
rs57618952	0.80[AMR][1000 genomes]
rs59230801	0.83[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs59891213	0.82[ASN][1000 genomes]
rs60003667	0.84[AFR][1000 genomes]
rs60238894	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60399672	0.94[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs61185650	0.86[ASN][1000 genomes]
rs61234123	0.94[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs61258861	0.90[ASN][1000 genomes]
rs61501839	0.88[ASN][1000 genomes]
rs7165017	0.86[EUR][1000 genomes]
rs7166278	0.89[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs7166945	0.94[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7167870	0.95[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs7169333	0.87[ASN][1000 genomes]
rs7170248	0.86[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs7172106	0.88[ASN][1000 genomes]
rs7178318	0.99[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7179390	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7181772	0.82[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs73417597	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8023453	0.88[ASN][1000 genomes]
rs8025876	0.87[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs8026945	0.84[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs8027036	0.99[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs8037922	0.83[EUR][1000 genomes]
rs8040923	0.83[EUR][1000 genomes]
rs883943	0.90[ASN][1000 genomes]
rs9672237	0.86[ASN][1000 genomes]
rs9673085	0.85[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs9806511	0.86[EUR][1000 genomes];0.83[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	nsv431387	chr15:43929378-44862930	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
2	esv3386433	chr15:44654644-45037538	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS 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	135 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44830400-44848600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr15:44830400-44850200	Weak transcription	Aorta	Aorta
3	chr15:44830400-44855200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr15:44830400-44855200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr15:44831000-44856800	Weak transcription	Fetal Brain Male	brain
6	chr15:44833800-44857200	Weak transcription	Small Intestine	intestine
7	chr15:44834600-44846200	Weak transcription	Brain Germinal Matrix	brain
8	chr15:44835000-44847200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr15:44838400-44847200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr15:44838400-44857200	Weak transcription	Stomach Mucosa	stomach
11	chr15:44838800-44847200	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr15:44838800-44849400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr15:44839000-44846800	Weak transcription	Fetal Heart	heart
14	chr15:44839000-44846800	Weak transcription	HSMMtube	muscle
15	chr15:44839000-44847000	Weak transcription	Brain Angular Gyrus	brain
16	chr15:44839600-44847200	Weak transcription	Psoas Muscle	Psoas
17	chr15:44840000-44856000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr15:44840200-44858000	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr15:44840600-44855600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr15:44840600-44857000	Strong transcription	Hela-S3	cervix
21	chr15:44842000-44951600	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr15:44842200-44847200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr15:44842400-44856600	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr15:44842400-44857400	Weak transcription	Right Atrium	heart
25	chr15:44842600-44846000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr15:44842600-44846800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr15:44842800-44855800	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr15:44842800-44856400	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr15:44842800-44857000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr15:44843000-44846000	Strong transcription	Primary T helper cells PMA-I stimulated	--
31	chr15:44843000-44846000	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr15:44843000-44846200	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr15:44843000-44847200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr15:44843000-44856600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr15:44843000-44857200	Strong transcription	NH-A	brain
36	chr15:44843200-44845400	Strong transcription	Primary T cells from cord blood	blood
37	chr15:44843200-44845400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
38	chr15:44843200-44846200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr15:44843200-44847000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr15:44843200-44847200	Strong transcription	Fetal Thymus	thymus
41	chr15:44843200-44847200	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr15:44843200-44850000	Strong transcription	NHEK	skin
43	chr15:44843200-44855200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr15:44843200-44856200	Strong transcription	H1 Cell Line	embryonic stem cell
45	chr15:44843200-44857000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr15:44843200-44857000	Strong transcription	Dnd41	blood
47	chr15:44843200-44857400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr15:44843200-44857400	Strong transcription	Liver	Liver
49	chr15:44843200-44857400	Strong transcription	Fetal Intestine Large	intestine
50	chr15:44843200-44857600	Strong transcription	Adipose Nuclei	Adipose

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