Variant report

Variant	rs6151457
Chromosome Location	chr15:59977932-59977933
allele	C/T
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	TBL1XR1	chr15:59977826-59978177	K562	blood:	n/a	n/a
2	TCF12	chr15:59977886-59978603	SK-N-SH	brain:	n/a	n/a
3	EP300	chr15:59977815-59978439	K562	blood:	n/a	n/a
4	IRF1	chr15:59977900-59978275	K562	blood:	n/a	n/a
5	RCOR1	chr15:59977829-59978527	K562	blood:	n/a	n/a
6	JUN	chr15:59977865-59978269	HUVEC	blood vessel:	n/a	chr15:59978099-59978111 chr15:59977928-59977940 chr15:59978101-59978109 chr15:59978100-59978110
7	ATF1	chr15:59977881-59978306	K562	blood:	n/a	n/a
8	FOS	chr15:59977866-59978304	HUVEC	blood vessel:	n/a	chr15:59978099-59978111 chr15:59977928-59977940 chr15:59978101-59978109 chr15:59978100-59978110 chr15:59978099-59978110
9	JUND	chr15:59977895-59978323	K562	blood:	n/a	chr15:59978099-59978111 chr15:59977928-59977940 chr15:59978101-59978109 chr15:59978100-59978110
10	ARID3A	chr15:59977854-59978401	K562	blood:	n/a	n/a
11	MAFK	chr15:59977894-59978657	K562	blood:	n/a	chr15:59978095-59978106 chr15:59978099-59978108 chr15:59978094-59978105 chr15:59978093-59978107
12	FOS	chr15:59977862-59978185	MCF10A-Er-Src	breast:	n/a	chr15:59978099-59978111 chr15:59977928-59977940 chr15:59978101-59978109 chr15:59978100-59978110 chr15:59978099-59978110
13	STAT5A	chr15:59977785-59978298	K562	blood:	n/a	chr15:59977985-59978008 chr15:59977997-59978011
14	GATA2	chr15:59977865-59978434	HUVEC	blood vessel:	n/a	n/a
15	STAT3	chr15:59977860-59978093	MCF10A-Er-Src	breast:	n/a	chr15:59977985-59978008 chr15:59977997-59978011
16	TEAD4	chr15:59977859-59978263	K562	blood:	n/a	n/a
17	CUX1	chr15:59977769-59978292	K562	blood:	n/a	chr15:59977861-59977875
18	POLR2A	chr15:59977787-59978404	HUVEC	blood vessel:	n/a	n/a
19	STAT3	chr15:59977858-59978175	MCF10A-Er-Src	breast:	n/a	chr15:59977985-59978008 chr15:59977997-59978011
20	POLR2A	chr15:59977786-59978545	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:59975789..59979387-chr15:59979488..59982275,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259238	TF binding region
BNIP2	TF binding region
ENSG00000140299	Chromatin interaction
ENSG00000259238	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs12050786	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12161947	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12161992	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12161993	0.86[CHB][hapmap];0.87[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16941544	0.95[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes]
rs17236713	0.94[JPT][hapmap];0.81[YRI][hapmap];0.85[EUR][1000 genomes]
rs17236734	0.95[JPT][hapmap];0.85[EUR][1000 genomes]
rs17302448	0.94[JPT][hapmap];0.93[YRI][hapmap];0.85[EUR][1000 genomes]
rs17302608	0.94[CHB][hapmap];0.88[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2306359	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28395445	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28418513	0.85[EUR][1000 genomes]
rs28422085	0.85[EUR][1000 genomes]
rs28437066	0.85[EUR][1000 genomes]
rs28642859	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2899650	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4775192	0.95[JPT][hapmap];0.90[YRI][hapmap];0.85[EUR][1000 genomes]
rs4775193	1.00[JPT][hapmap];0.93[YRI][hapmap];0.85[EUR][1000 genomes]
rs4775198	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6151443	0.94[CHB][hapmap];0.88[JPT][hapmap];0.81[YRI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6151492	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6151497	0.94[CHB][hapmap];0.94[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6151505	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6151522	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6151534	0.93[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6151538	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6151540	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6151567	0.95[JPT][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs6151575	0.85[EUR][1000 genomes]
rs6151591	0.82[CHB][hapmap];0.94[JPT][hapmap];0.89[YRI][hapmap];0.85[EUR][1000 genomes]
rs8026404	0.81[YRI][hapmap]
rs8033208	0.82[CHB][hapmap];0.90[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv527307	chr15:59103328-60018487	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv533240	chr15:59858093-59998176	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	esv1824522	chr15:59919844-59987181	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS 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	27 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	chr15:59949800-59980000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr15:59950400-59979600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:59951000-59978400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr15:59951400-59978800	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr15:59952400-59978600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr15:59962000-59979400	Weak transcription	Fetal Heart	heart
7	chr15:59965000-59980200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr15:59968200-59979600	Weak transcription	Fetal Brain Male	brain
9	chr15:59969600-59978400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr15:59969600-59980000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr15:59970200-59978400	Weak transcription	Psoas Muscle	Psoas
12	chr15:59970600-59979800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr15:59970800-59979800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr15:59973200-59979600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr15:59973400-59980000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr15:59973600-59980000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr15:59973600-59980000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr15:59973600-59980000	Weak transcription	Esophagus	oesophagus
19	chr15:59973800-59978200	Weak transcription	Fetal Kidney	kidney
20	chr15:59973800-59978400	Weak transcription	Brain Germinal Matrix	brain
21	chr15:59973800-59979600	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr15:59973800-59979600	Weak transcription	Brain Angular Gyrus	brain
23	chr15:59974000-59978200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr15:59974000-59978400	Weak transcription	Fetal Muscle Trunk	muscle
25	chr15:59974000-59979600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr15:59974000-59979800	Weak transcription	Fetal Brain Female	brain
27	chr15:59974200-59978000	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr15:59974200-59978200	Weak transcription	Fetal Lung	lung
29	chr15:59974200-59978400	Weak transcription	NH-A	brain
30	chr15:59974400-59978200	Weak transcription	HMEC	breast
31	chr15:59974400-59978400	Weak transcription	Aorta	Aorta
32	chr15:59974400-59978400	Weak transcription	Right Ventricle	heart
33	chr15:59974400-59979600	Weak transcription	Fetal Muscle Leg	muscle
34	chr15:59974400-59979600	Weak transcription	Ovary	ovary
35	chr15:59974400-59979600	Weak transcription	Spleen	Spleen
36	chr15:59974400-59980000	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr15:59974400-59980000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr15:59974400-59980000	Weak transcription	Brain Cingulate Gyrus	brain
39	chr15:59974400-59980000	Weak transcription	Lung	lung
40	chr15:59974600-59978400	Weak transcription	Thymus	Thymus
41	chr15:59974600-59979800	Weak transcription	Fetal Stomach	stomach
42	chr15:59974600-59980000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr15:59974800-59978200	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr15:59974800-59978400	Weak transcription	Fetal Intestine Large	intestine
45	chr15:59974800-59979600	Weak transcription	Stomach Smooth Muscle	stomach
46	chr15:59974800-59979800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr15:59974800-59979800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr15:59975000-59979800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr15:59975200-59978200	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr15:59975200-59979600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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