Variant report

Variant	rs7170538
Chromosome Location	chr15:59067687-59067688
allele	A/C
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	E2F4	chr15:59067637-59067723	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:59065749..59068993-chr15:59071498..59074723,3	K562	blood:
2	chr15:59064130..59065710-chr15:59066898..59069288,2	MCF-7	breast:
3	chr15:59041592..59043697-chr15:59067077..59069982,2	K562	blood:

Variant related genes	Relation type
ENSG00000245975	TF binding region
ENSG00000137845	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs11071396	0.90[CEU][hapmap];0.91[EUR][1000 genomes]
rs11629654	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11631799	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11852241	0.80[EUR][1000 genomes]
rs12437552	0.89[TSI][hapmap]
rs12437928	0.85[LWK][hapmap]
rs12900320	0.83[AMR][1000 genomes]
rs12901817	0.83[AMR][1000 genomes]
rs12914164	0.91[LWK][hapmap];0.83[YRI][hapmap]
rs17236243	0.91[CEU][hapmap];0.83[CHB][hapmap];0.90[EUR][1000 genomes]
rs2054096	0.82[JPT][hapmap]
rs2414607	0.81[TSI][hapmap]
rs28391588	0.84[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.91[JPT][hapmap];0.85[TSI][hapmap]
rs28537903	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28549775	0.81[AMR][1000 genomes]
rs28617688	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28812884	0.80[AMR][1000 genomes]
rs34362744	0.81[AMR][1000 genomes]
rs34546804	0.81[EUR][1000 genomes]
rs406699	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4238331	0.81[CHD][hapmap];0.82[JPT][hapmap]
rs4774311	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4775095	0.83[YRI][hapmap];0.81[AMR][1000 genomes]
rs481309	0.81[AMR][1000 genomes]
rs500057	0.83[YRI][hapmap];0.81[AMR][1000 genomes]
rs501165	0.81[AMR][1000 genomes]
rs510759	0.83[YRI][hapmap];0.86[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs556256	0.83[YRI][hapmap];0.81[AMR][1000 genomes]
rs561903	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs574683	0.83[YRI][hapmap];0.81[AMR][1000 genomes]
rs596094	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs597112	0.82[YRI][hapmap];0.81[AMR][1000 genomes]
rs601795	0.81[AMR][1000 genomes]
rs625312	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs652193	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs654857	0.80[AMR][1000 genomes]
rs654870	0.80[AMR][1000 genomes]
rs655348	0.81[EUR][1000 genomes]
rs664936	0.89[LWK][hapmap];0.93[MKK][hapmap];0.80[YRI][hapmap];0.82[AFR][1000 genomes]
rs681711	0.91[CEU][hapmap];0.91[EUR][1000 genomes]
rs684505	0.81[AMR][1000 genomes]
rs688343	0.83[YRI][hapmap];0.81[AMR][1000 genomes]
rs7163515	0.82[JPT][hapmap]
rs7164053	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7164844	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.95[MKK][hapmap];0.95[TSI][hapmap];0.83[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7168275	0.81[EUR][1000 genomes]
rs7171198	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7174187	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7178970	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7179724	0.85[TSI][hapmap]
rs7183900	0.99[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8023706	0.95[CHB][hapmap];0.91[JPT][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8027998	0.84[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.86[JPT][hapmap];0.85[TSI][hapmap]
rs8032298	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs8033478	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9646204	0.91[CEU][hapmap];0.83[CHB][hapmap];0.80[CHD][hapmap];0.96[GIH][hapmap];0.85[TSI][hapmap];0.88[EUR][1000 genomes]
rs9744045	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9788674	0.86[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.96[AMR][1000 genomes];0.91[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	nsv1051058	chr15:58519922-59092530	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv542401	chr15:58519922-59092530	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	esv34110	chr15:58949991-59381634	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
4	esv1843037	chr15:59005922-59115159	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
5	esv1826703	chr15:59005922-59213678	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
6	esv1798487	chr15:59027139-59213678	Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
7	nsv428638	chr15:59032300-59126567	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59062200-59067800	Active TSS	GM12878-XiMat	blood
2	chr15:59062400-59067800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr15:59064600-59069000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
4	chr15:59064600-59081000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr15:59064600-59085000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr15:59064600-59102800	Weak transcription	Lung	lung
7	chr15:59064600-59102800	Weak transcription	Pancreas	Pancrea
8	chr15:59064600-59103200	Weak transcription	Esophagus	oesophagus
9	chr15:59064600-59145600	Weak transcription	Gastric	stomach
10	chr15:59064800-59095400	Weak transcription	Fetal Muscle Trunk	muscle
11	chr15:59065000-59069000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr15:59065200-59069600	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr15:59065200-59117800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr15:59065400-59068000	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr15:59065600-59068600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr15:59065600-59082600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr15:59065800-59067800	Weak transcription	Small Intestine	intestine
18	chr15:59065800-59068400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr15:59065800-59069800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr15:59065800-59077800	Weak transcription	Psoas Muscle	Psoas
21	chr15:59065800-59082600	Weak transcription	Placenta	Placenta
22	chr15:59065800-59094600	Weak transcription	Primary hematopoietic stem cells	blood
23	chr15:59065800-59095000	Weak transcription	Fetal Thymus	thymus
24	chr15:59065800-59102800	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr15:59065800-59103200	Weak transcription	NH-A	brain
26	chr15:59065800-59142800	Weak transcription	Aorta	Aorta
27	chr15:59066000-59068000	Enhancers	Dnd41	blood
28	chr15:59066000-59068800	Weak transcription	Primary B cells from cord blood	blood
29	chr15:59066000-59069600	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr15:59066000-59071000	Weak transcription	Fetal Stomach	stomach
31	chr15:59066000-59074800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr15:59066000-59085200	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr15:59066000-59095000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr15:59066000-59102400	Weak transcription	HSMM	muscle
35	chr15:59066200-59067800	Enhancers	Brain Hippocampus Middle	brain
36	chr15:59066200-59071000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr15:59066200-59081600	Weak transcription	Fetal Muscle Leg	muscle
38	chr15:59066200-59084200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr15:59066200-59095000	Weak transcription	Osteobl	bone
40	chr15:59066200-59095600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr15:59066400-59068600	Enhancers	Brain Cingulate Gyrus	brain
42	chr15:59066400-59068600	Enhancers	Right Ventricle	heart
43	chr15:59066400-59069200	Weak transcription	HUVEC	blood vessel
44	chr15:59066400-59069800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr15:59066400-59084200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr15:59066400-59085200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr15:59066400-59091000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr15:59066400-59095000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr15:59066400-59095000	Weak transcription	Fetal Intestine Large	intestine
50	chr15:59066600-59068000	Enhancers	HepG2	liver

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