Variant report

Variant	rs73438515
Chromosome Location	chr15:75315638-75315639
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	CCNT2	chr15:75315623-75316218	K562	blood:	n/a	n/a
2	ELF1	chr15:75315536-75316051	K562	blood:	n/a	chr15:75316003-75316012
3	POLR2A	chr15:75315631-75316868	PANC-1	pancreas:	n/a	n/a
4	TAL1	chr15:75315178-75316216	K562	blood:	n/a	chr15:75315690-75315708 chr15:75315331-75315339
5	MAX	chr15:75315608-75316715	A549	lung:	n/a	chr15:75315975-75315985 chr15:75316627-75316642
6	POLR2A	chr15:75315597-75316664	SK-N-SH	brain:	n/a	n/a
7	ZC3H11A	chr15:75315385-75316062	K562	blood:	n/a	n/a
8	MYC	chr15:75315540-75315644	K562	blood:	n/a	n/a
9	SIX5	chr15:75315530-75316112	A549	lung:	n/a	chr15:75315835-75315844 chr15:75315837-75315846 chr15:75315808-75315817 chr15:75315806-75315815
10	TBL1XR1	chr15:75315534-75316244	K562	blood:	n/a	n/a
11	JUND	chr15:75315448-75316190	K562	blood:	n/a	chr15:75315782-75315796
12	CHD2	chr15:75315611-75316688	Hela-S3	cervix:	n/a	n/a
13	HEY1	chr15:75315492-75316240	HepG2	liver:	n/a	n/a
14	HEY1	chr15:75315598-75316288	HepG2	liver:	n/a	n/a
15	ZBTB33	chr15:75315626-75316206	K562	blood:	n/a	chr15:75315878-75315893 chr15:75315923-75315938
16	ZNF384	chr15:75315377-75316068	GM12878	blood:	n/a	n/a
17	POLR2A	chr15:75315619-75316860	PFSK-1	brain:	n/a	n/a
18	ELF1	chr15:75315611-75316149	K562	blood:	n/a	chr15:75316003-75316012
19	GATA1	chr15:75314966-75316097	PBDE	blood:	n/a	n/a
20	ZMIZ1	chr15:75315398-75316381	K562	blood:	n/a	n/a
21	ZBTB7A	chr15:75315602-75316329	K562	blood:	n/a	n/a
22	YY1	chr15:75315624-75316246	GM12878	blood:	n/a	chr15:75316003-75316012 chr15:75316012-75316023 chr15:75316006-75316015
23	POLR2A	chr15:75315623-75316825	Hela-S3	cervix:	n/a	n/a
24	GATA3	chr15:75315622-75316351	A549	lung:	n/a	n/a
25	RCOR1	chr15:75315309-75316003	K562	blood:	n/a	n/a
26	ZBTB33	chr15:75315374-75316679	A549	lung:	n/a	chr15:75315878-75315893 chr15:75315923-75315938
27	POLR2A	chr15:75315557-75316854	K562	blood:	n/a	n/a
28	ELF1	chr15:75315594-75316135	A549	lung:	n/a	chr15:75316003-75316012
29	NR2F2	chr15:75315509-75316298	K562	blood:	n/a	n/a
30	MYC	chr15:75315327-75316728	K562	blood:	n/a	chr15:75315975-75315985 chr15:75316627-75316642
31	CEBPB	chr15:75315594-75315973	K562	blood:	n/a	n/a
32	SIX5	chr15:75315629-75316014	K562	blood:	n/a	chr15:75315835-75315844 chr15:75315837-75315846 chr15:75315808-75315817 chr15:75315806-75315815
33	MAX	chr15:75315168-75316306	K562	blood:	n/a	chr15:75315975-75315985
34	MAX	chr15:75315455-75316110	K562	blood:	n/a	chr15:75315975-75315985
35	ZBTB33	chr15:75315541-75316334	A549	lung:	n/a	chr15:75315878-75315893 chr15:75315923-75315938
36	GATA2	chr15:75315140-75315936	K562	blood:	n/a	n/a
37	TRIM28	chr15:75315575-75316502	K562	blood:	n/a	n/a
38	SP1	chr15:75315595-75316596	A549	lung:	n/a	chr15:75315977-75315991
39	ZBTB33	chr15:75315574-75316194	HepG2	liver:	n/a	chr15:75315878-75315893 chr15:75315923-75315938
40	POLR2A	chr15:75315508-75316380	K562	blood:	n/a	n/a
41	TCF12	chr15:75315600-75316308	A549	lung:	n/a	n/a
42	JUN	chr15:75315592-75316099	K562	blood:	n/a	chr15:75315782-75315796
43	TAF1	chr15:75315595-75316569	ECC-1	luminal epithelium:	n/a	n/a
44	POLR2A	chr15:75315584-75316810	HUVEC	blood vessel:	n/a	n/a
45	ELF1	chr15:75315608-75316063	HepG2	liver:	n/a	chr15:75316003-75316012
46	SIX5	chr15:75315614-75315969	K562	blood:	n/a	chr15:75315835-75315844 chr15:75315837-75315846 chr15:75315808-75315817 chr15:75315806-75315815
47	HCFC1	chr15:75315379-75316567	K562	blood:	n/a	n/a
48	CHD2	chr15:75315600-75316317	GM12878	blood:	n/a	n/a
49	TAF1	chr15:75315600-75316621	A549	lung:	n/a	n/a
50	ZNF274	chr15:75315148-75315960	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:75315116..75318130-chr15:75502238..75505511,3	K562	blood:
2	chr15:75314427..75332274-chr15:75491598..75502885,56	MCF-7	breast:
3	chr15:75314438..75320960-chr15:75334023..75339188,6	K562	blood:
4	chr15:75314704..75323577-chr15:75491522..75500562,29	MCF-7	breast:
5	chr15:75300826..75305111-chr15:75313603..75318752,6	MCF-7	breast:
6	chr15:75163895..75166026-chr15:75315159..75317542,2	MCF-7	breast:
7	chr15:75247469..75252493-chr15:75314645..75318771,7	MCF-7	breast:
8	chr15:75313706..75315834-chr15:75659150..75661879,2	K562	blood:
9	chr15:75287417..75289225-chr15:75314885..75317439,2	MCF-7	breast:
10	chr15:75314737..75326433-chr15:75490770..75500610,30	K562	blood:
11	chr15:75302980..75304655-chr15:75315027..75317604,2	MCF-7	breast:
12	chr15:75286466..75289268-chr15:75313854..75316191,2	MCF-7	breast:
13	chr15:75246752..75249656-chr15:75313121..75316891,3	K562	blood:
14	chr15:75312886..75327225-chr15:75491522..75500922,36	K562	blood:
15	chr15:75287456..75290010-chr15:75314463..75316098,2	K562	blood:
16	chr15:75315622..75316343-chrX:53710851..53711547,2	Hela-S3	cervix:

Variant related genes	Relation type
PPCDC	TF binding region
ENSG00000261779	Chromatin interaction
ENSG00000167173	Chromatin interaction
ENSG00000178718	Chromatin interaction
ENSG00000140400	Chromatin interaction
ENSG00000086758	Chromatin interaction
ENSG00000198794	Chromatin interaction
ENSG00000138621	Chromatin interaction
ENSG00000260274	Chromatin interaction
ENSG00000140497	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs16973530	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58954461	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59423613	1.00[AMR][1000 genomes]
rs7173752	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73432970	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73438534	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73438559	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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	nsv569993	chr15:75242155-75483752	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
2	nsv542435	chr15:75271788-75321117	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv527237	chr15:75305040-75321262	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75289000-75315800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:75290000-75316000	Weak transcription	Small Intestine	intestine
3	chr15:75293200-75315800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr15:75304000-75315800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr15:75304000-75316000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr15:75305000-75315800	Weak transcription	Right Ventricle	heart
7	chr15:75306200-75316000	Weak transcription	Fetal Brain Male	brain
8	chr15:75307800-75315800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr15:75308200-75315800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr15:75309000-75315800	Weak transcription	Placenta	Placenta
11	chr15:75310400-75315800	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr15:75311200-75315800	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr15:75311200-75315800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr15:75311400-75315800	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr15:75311400-75315800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr15:75311400-75315800	Weak transcription	Fetal Intestine Large	intestine
17	chr15:75312600-75315800	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr15:75312600-75315800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr15:75312600-75315800	Weak transcription	Gastric	stomach
20	chr15:75312600-75315800	Weak transcription	Pancreas	Pancrea
21	chr15:75312800-75315800	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr15:75312800-75315800	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr15:75312800-75315800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr15:75313400-75315800	Weak transcription	Colonic Mucosa	Colon
25	chr15:75313600-75315800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr15:75313800-75315800	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr15:75313800-75315800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr15:75314000-75315800	Weak transcription	Brain Germinal Matrix	brain
29	chr15:75314200-75315800	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr15:75314600-75315800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr15:75314800-75315800	Enhancers	Fetal Thymus	thymus
32	chr15:75315000-75315800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr15:75315200-75315800	Enhancers	Brain Substantia Nigra	brain
34	chr15:75315200-75315800	Enhancers	Fetal Muscle Leg	muscle
35	chr15:75315400-75315800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr15:75315400-75315800	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr15:75315400-75315800	Enhancers	Primary T cells fromperipheralblood	blood
38	chr15:75315400-75315800	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr15:75315400-75315800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr15:75315400-75315800	Enhancers	Fetal Kidney	kidney
41	chr15:75315400-75315800	Flanking Active TSS	HepG2	liver
42	chr15:75315400-75315800	Enhancers	HUVEC	blood vessel
43	chr15:75315400-75316000	Enhancers	Fetal Heart	heart
44	chr15:75315600-75315800	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr15:75315600-75315800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr15:75315600-75315800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr15:75315600-75315800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
48	chr15:75315600-75315800	Enhancers	Primary T cells from cord blood	blood
49	chr15:75315600-75315800	Enhancers	Primary hematopoietic stem cells	blood
50	chr15:75315600-75315800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood

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