Variant report

Variant	rs7171728
Chromosome Location	chr15:73050820-73050821
allele	C/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	STAT3	chr15:73050507-73050870	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr15:73050178-73050977	GM12878	blood:	n/a	n/a
3	JUND	chr15:73050359-73050965	SK-N-SH	brain:	n/a	chr15:73050699-73050709 chr15:73050699-73050709 chr15:73050699-73050709 chr15:73050701-73050712
4	MAFK	chr15:73050418-73050953	IMR90	lung:	n/a	chr15:73050678-73050692 chr15:73050675-73050691
5	RAD21	chr15:73050567-73050986	IMR90	lung:	n/a	chr15:73050868-73050875
6	POLR2A	chr15:73050433-73050848	U87	brain:	n/a	n/a
7	CEBPB	chr15:73050242-73050910	IMR90	lung:	n/a	n/a
8	POLR2A	chr15:73050635-73051225	K562	blood:	n/a	n/a
9	FOS	chr15:73050526-73050857	MCF10A-Er-Src	breast:	n/a	chr15:73050699-73050709 chr15:73050699-73050709 chr15:73050698-73050709 chr15:73050699-73050709 chr15:73050701-73050712
10	FOSL2	chr15:73050511-73050978	SK-N-SH	brain:	n/a	chr15:73050699-73050709 chr15:73050699-73050709 chr15:73050699-73050709 chr15:73050701-73050712
11	STAT3	chr15:73050530-73050857	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr15:73050565-73050878	MCF10A-Er-Src	breast:	n/a	chr15:73050699-73050709 chr15:73050699-73050709 chr15:73050698-73050709 chr15:73050699-73050709 chr15:73050701-73050712
13	POLR2A	chr15:73050402-73050848	U87	brain:	n/a	n/a
14	FOS	chr15:73050533-73050835	MCF10A-Er-Src	breast:	n/a	chr15:73050699-73050709 chr15:73050699-73050709 chr15:73050698-73050709 chr15:73050699-73050709 chr15:73050701-73050712
15	FOS	chr15:73050539-73050913	HUVEC	blood vessel:	n/a	chr15:73050699-73050709 chr15:73050699-73050709 chr15:73050698-73050709 chr15:73050699-73050709 chr15:73050701-73050712
16	STAT3	chr15:73050463-73050881	MCF10A-Er-Src	breast:	n/a	n/a
17	FOSL2	chr15:73050501-73051013	SK-N-SH	brain:	n/a	chr15:73050699-73050709 chr15:73050699-73050709 chr15:73050699-73050709 chr15:73050701-73050712
18	POLR2A	chr15:73050631-73051149	GM12878	blood:	n/a	n/a
19	POLR2A	chr15:73050470-73050909	SK-N-SH	brain:	n/a	n/a
20	JUND	chr15:73050432-73050991	SK-N-SH	brain:	n/a	chr15:73050699-73050709 chr15:73050699-73050709 chr15:73050699-73050709 chr15:73050701-73050712
21	POLR2A	chr15:73050594-73051231	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:73049186..73051770-chr15:73072949..73076067,3	K562	blood:

Variant related genes	Relation type
ADPGK	TF binding region
ENSG00000260898	Chromatin interaction
ENSG00000159322	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10459647	0.96[ASN][1000 genomes]
rs11072385	0.90[ASN][1000 genomes]
rs11631214	0.95[ASN][1000 genomes]
rs11631352	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs11637168	0.84[ASN][1000 genomes]
rs12900863	0.86[ASN][1000 genomes]
rs12911743	0.81[ASN][1000 genomes]
rs2162269	0.90[ASN][1000 genomes]
rs2277598	0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2304597	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs28582982	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34117151	0.86[ASN][1000 genomes]
rs3850986	0.90[ASN][1000 genomes]
rs4776613	0.93[ASN][1000 genomes]
rs4776614	1.00[CHB][hapmap];0.93[JPT][hapmap];0.93[ASN][1000 genomes]
rs4777532	0.98[ASN][1000 genomes]
rs4777534	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4777536	0.87[YRI][hapmap];0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4777542	0.93[ASN][1000 genomes]
rs4777546	0.81[ASN][1000 genomes]
rs62017600	0.98[ASN][1000 genomes]
rs7164727	0.86[ASN][1000 genomes]
rs7166595	0.86[ASN][1000 genomes]
rs7176223	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7176235	0.84[CHB][hapmap];0.93[JPT][hapmap]
rs7178130	0.92[JPT][hapmap]
rs8024986	0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs8025333	0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs8027181	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs8030477	1.00[CHB][hapmap];0.93[JPT][hapmap];0.91[ASN][1000 genomes]
rs8033073	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs8033580	0.93[JPT][hapmap]
rs8038247	0.86[ASN][1000 genomes]
rs890354	0.84[ASN][1000 genomes]
rs9460	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758386	chr15:72819785-73120560	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	esv2760039	chr15:72819785-73120560	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv428307	chr15:72819785-73120560	Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
4	nsv482512	chr15:73023099-73175952	Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:73002000-73054600	Weak transcription	Fetal Brain Male	brain
2	chr15:73030600-73058400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr15:73041800-73071000	Strong transcription	Liver	Liver
4	chr15:73042200-73053800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr15:73042200-73055400	Strong transcription	Fetal Muscle Leg	muscle
6	chr15:73042200-73056200	Strong transcription	Thymus	Thymus
7	chr15:73042200-73058600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr15:73042200-73058600	Strong transcription	A549	lung
9	chr15:73043200-73053400	Strong transcription	GM12878-XiMat	blood
10	chr15:73043200-73053800	Strong transcription	Stomach Smooth Muscle	stomach
11	chr15:73043400-73051000	Strong transcription	Esophagus	oesophagus
12	chr15:73043400-73051200	Strong transcription	Pancreas	Pancrea
13	chr15:73043400-73053600	Strong transcription	Rectal Mucosa Donor 31	rectum
14	chr15:73043400-73055200	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr15:73043400-73055800	Strong transcription	Fetal Stomach	stomach
16	chr15:73043400-73056200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr15:73043400-73056600	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr15:73043400-73056600	Strong transcription	Fetal Muscle Trunk	muscle
19	chr15:73043400-73056800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr15:73043400-73058800	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr15:73043400-73058800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr15:73043400-73059000	Strong transcription	Fetal Intestine Small	intestine
23	chr15:73043400-73059000	Strong transcription	Left Ventricle	heart
24	chr15:73043400-73059200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr15:73043400-73059200	Strong transcription	Fetal Intestine Large	intestine
26	chr15:73043800-73051200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
27	chr15:73043800-73051200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr15:73043800-73053600	Strong transcription	H1 Cell Line	embryonic stem cell
29	chr15:73043800-73057000	Strong transcription	Duodenum Smooth Muscle	Duodenum
30	chr15:73043800-73057200	Strong transcription	Sigmoid Colon	Sigmoid Colon
31	chr15:73043800-73073600	Strong transcription	Fetal Thymus	thymus
32	chr15:73044000-73051200	Strong transcription	Fetal Brain Female	brain
33	chr15:73044000-73053400	Strong transcription	Fetal Lung	lung
34	chr15:73044000-73054000	Strong transcription	HepG2	liver
35	chr15:73044000-73057400	Strong transcription	Dnd41	blood
36	chr15:73044000-73058600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr15:73044200-73051200	Strong transcription	H9 Cell Line	embryonic stem cell
38	chr15:73044200-73059200	Strong transcription	Primary T cells from cord blood	blood
39	chr15:73044200-73067600	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr15:73044400-73056400	Weak transcription	Fetal Heart	heart
41	chr15:73044400-73056400	Strong transcription	Hela-S3	cervix
42	chr15:73044600-73056200	Strong transcription	Ovary	ovary
43	chr15:73045000-73053000	Strong transcription	Skeletal Muscle Male	skeletal muscle
44	chr15:73045000-73053400	Strong transcription	Primary B cells from cord blood	blood
45	chr15:73045000-73074200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr15:73045200-73054000	Strong transcription	Lung	lung
47	chr15:73045200-73058800	Strong transcription	Primary B cells from peripheral blood	blood
48	chr15:73045200-73074200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr15:73045400-73053600	Strong transcription	Spleen	Spleen
50	chr15:73045400-73054200	Strong transcription	Skeletal Muscle Female	skeletal muscle

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