Variant report

Variant	rs2303577
Chromosome Location	chr15:44847155-44847156
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	chr15:44847038-44847905	K562	blood:	n/a	n/a
2	POLR2A	chr15:44847091-44847179	HepG2	liver:	n/a	n/a
3	POLR2A	chr15:44847103-44847399	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:44843060..44845487-chr15:44846368..44848756,2	MCF-7	breast:
2	chr15:44846922..44848532-chr15:44859953..44861559,2	K562	blood:
3	chr15:44846161..44848847-chr15:44863413..44865479,2	MCF-7	breast:

Variant related genes	Relation type
EIF3J	TF binding region
ENSG00000259659	TF binding region
ENSG00000104133	Chromatin interaction
ENSG00000104131	Chromatin interaction

Extended variants
information (count: 99 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs10152685	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap]
rs10152710	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1021800	1.00[EUR][1000 genomes]
rs10467977	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs12591118	0.86[ASN][1000 genomes]
rs12591178	0.94[EUR][1000 genomes]
rs12591581	1.00[EUR][1000 genomes]
rs12591811	0.88[EUR][1000 genomes]
rs12592447	0.86[ASN][1000 genomes]
rs12592479	0.86[CHB][hapmap];0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs12592995	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs12593125	0.94[EUR][1000 genomes]
rs12593325	1.00[EUR][1000 genomes]
rs12593632	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap]
rs12593686	0.88[EUR][1000 genomes]
rs12593943	0.88[EUR][1000 genomes]
rs12594110	1.00[EUR][1000 genomes]
rs12594139	0.88[EUR][1000 genomes]
rs12594167	1.00[GIH][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs12594578	1.00[ASW][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.86[ASN][1000 genomes]
rs12594621	0.88[EUR][1000 genomes]
rs12594645	0.88[EUR][1000 genomes]
rs12594746	0.94[EUR][1000 genomes]
rs12594924	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs12594967	0.86[ASN][1000 genomes]
rs12595484	0.88[EUR][1000 genomes]
rs12595615	0.81[ASN][1000 genomes]
rs12595838	1.00[GIH][hapmap]
rs17551416	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2055061	0.94[EUR][1000 genomes]
rs2277610	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2288341	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2288342	0.94[EUR][1000 genomes]
rs2303578	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2412883	0.94[EUR][1000 genomes]
rs2412909	0.94[EUR][1000 genomes]
rs2433350	1.00[CEU][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs2555352	1.00[ASW][hapmap]
rs2555353	0.94[EUR][1000 genomes]
rs2556566	1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs2556567	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs28508235	0.88[EUR][1000 genomes]
rs28561508	0.94[EUR][1000 genomes]
rs2899113	1.00[EUR][1000 genomes]
rs35286810	1.00[ASW][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.81[ASN][1000 genomes]
rs35555389	0.94[EUR][1000 genomes]
rs35932349	1.00[ASW][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.87[ASN][1000 genomes]
rs3759873	1.00[ASW][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap]
rs3784565	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs3784567	1.00[CEU][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs3809471	1.00[GIH][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs3816928	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs3986142	1.00[CEU][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs3986143	0.94[EUR][1000 genomes]
rs4415978	0.94[EUR][1000 genomes]
rs4477677	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs4577056	1.00[GIH][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs57270586	0.94[EUR][1000 genomes]
rs57488532	0.81[ASN][1000 genomes]
rs58956090	0.94[EUR][1000 genomes]
rs59230801	0.94[EUR][1000 genomes]
rs60003667	0.94[EUR][1000 genomes]
rs60399672	0.94[EUR][1000 genomes]
rs61185650	0.94[EUR][1000 genomes]
rs61234123	0.94[EUR][1000 genomes]
rs61258861	0.94[EUR][1000 genomes]
rs61278540	0.88[EUR][1000 genomes]
rs61329003	0.94[EUR][1000 genomes]
rs61501839	0.94[EUR][1000 genomes]
rs7162671	0.88[EUR][1000 genomes]
rs7162802	0.88[EUR][1000 genomes]
rs7163529	0.88[EUR][1000 genomes]
rs7164709	0.88[EUR][1000 genomes]
rs7166278	1.00[CEU][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs7166945	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs7167752	0.88[EUR][1000 genomes]
rs7169333	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs7170248	0.94[EUR][1000 genomes]
rs7172106	1.00[CEU][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs7175200	0.88[EUR][1000 genomes]
rs7178318	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs7179894	0.88[EUR][1000 genomes]
rs7181772	1.00[CEU][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs7183109	0.83[EUR][1000 genomes]
rs8023453	1.00[CEU][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs8024623	0.88[EUR][1000 genomes]
rs8024805	0.88[EUR][1000 genomes]
rs8025727	0.88[EUR][1000 genomes]
rs8025876	0.94[EUR][1000 genomes]
rs8025955	0.88[EUR][1000 genomes]
rs8026945	0.94[EUR][1000 genomes]
rs8027036	0.94[EUR][1000 genomes]
rs8028509	0.94[EUR][1000 genomes]
rs8032079	0.88[EUR][1000 genomes]
rs883943	1.00[CEU][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs9672237	1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs9673085	1.00[CEU][hapmap];0.94[EUR][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	chr15:44835000-44847200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr15:44838400-44847200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr15:44838400-44857200	Weak transcription	Stomach Mucosa	stomach
10	chr15:44838800-44847200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr15:44838800-44849400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr15:44839600-44847200	Weak transcription	Psoas Muscle	Psoas
13	chr15:44840000-44856000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr15:44840200-44858000	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr15:44840600-44855600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr15:44840600-44857000	Strong transcription	Hela-S3	cervix
17	chr15:44842000-44951600	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr15:44842200-44847200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr15:44842400-44856600	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr15:44842400-44857400	Weak transcription	Right Atrium	heart
21	chr15:44842800-44855800	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr15:44842800-44856400	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr15:44842800-44857000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr15:44843000-44847200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr15:44843000-44856600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
26	chr15:44843000-44857200	Strong transcription	NH-A	brain
27	chr15:44843200-44847200	Strong transcription	Fetal Thymus	thymus
28	chr15:44843200-44847200	Strong transcription	Skeletal Muscle Female	skeletal muscle
29	chr15:44843200-44850000	Strong transcription	NHEK	skin
30	chr15:44843200-44855200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr15:44843200-44856200	Strong transcription	H1 Cell Line	embryonic stem cell
32	chr15:44843200-44857000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr15:44843200-44857000	Strong transcription	Dnd41	blood
34	chr15:44843200-44857400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr15:44843200-44857400	Strong transcription	Liver	Liver
36	chr15:44843200-44857400	Strong transcription	Fetal Intestine Large	intestine
37	chr15:44843200-44857600	Strong transcription	Adipose Nuclei	Adipose
38	chr15:44843200-44867800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr15:44843200-44868000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr15:44843400-44847200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr15:44843400-44847200	Strong transcription	GM12878-XiMat	blood
42	chr15:44843400-44848000	Strong transcription	A549	lung
43	chr15:44843400-44856400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr15:44843400-44856600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr15:44843400-44856800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr15:44843600-44856200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr15:44843600-44866000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr15:44843800-44853800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr15:44843800-44857000	Strong transcription	Primary B cells from cord blood	blood
50	chr15:44843800-44857000	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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