Variant report

Variant	rs1078243
Chromosome Location	chr15:43478156-43478157
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	POLR2A	chr15:43477291-43478513	GM12892	blood:	n/a	n/a
2	CTCF	chr15:43478020-43478170	BE2_C	brain:	n/a	chr15:43478084-43478097 chr15:43478084-43478097
3	SPI1	chr15:43477938-43478554	HL-60	blood:	n/a	n/a
4	CTCF	chr15:43478040-43478190	GM12865	blood:	n/a	chr15:43478084-43478097 chr15:43478084-43478097
5	CTCF	chr15:43478020-43478170	HPF	lung:	n/a	chr15:43478084-43478097 chr15:43478084-43478097
6	CTCF	chr15:43477933-43478422	GM12892	blood:	n/a	chr15:43478084-43478097 chr15:43478084-43478097
7	MAX	chr15:43477261-43478459	K562	blood:	n/a	n/a
8	CTCF	chr15:43478020-43478170	HFF-Myc	foreskin:	n/a	chr15:43478084-43478097 chr15:43478084-43478097
9	ZKSCAN1	chr15:43478063-43478266	Hela-S3	cervix:	n/a	n/a
10	GABPA	chr15:43477474-43478513	HL-60	blood:	n/a	n/a
11	SIN3AK20	chr15:43477322-43478451	H1-hESC	embryonic stem cell:	n/a	n/a
12	GABPA	chr15:43477957-43478233	K562	blood:	n/a	n/a
13	MAFK	chr15:43478044-43478244	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr15:43477337-43478504	GM19193	blood:	n/a	n/a
15	ZBTB7A	chr15:43477550-43478521	ECC-1	luminal epithelium:	n/a	n/a
16	CTCF	chr15:43478004-43478191	MCF-7	breast:	n/a	chr15:43478084-43478097 chr15:43478084-43478097
17	POLR2A	chr15:43477225-43478480	Hela-S3	cervix:	n/a	n/a
18	CTCF	chr15:43478020-43478170	GM12870	blood:	n/a	chr15:43478084-43478097 chr15:43478084-43478097
19	POLR2A	chr15:43477242-43478527	HL-60	blood:	n/a	n/a
20	CTCF	chr15:43478060-43478210	HPAF	blood vessel:	n/a	chr15:43478084-43478097 chr15:43478084-43478097
21	ZNF143	chr15:43477977-43478299	K562	blood:	n/a	n/a
22	HCFC1	chr15:43477185-43478343	K562	blood:	n/a	n/a
23	POLR2A	chr15:43477239-43478695	GM12878	blood:	n/a	n/a
24	CTCF	chr15:43478006-43478203	MCF-7	breast:	n/a	chr15:43478084-43478097 chr15:43478084-43478097
25	SMC3	chr15:43478029-43478222	GM12878	blood:	n/a	n/a
26	CTCF	chr15:43477859-43478278	K562	blood:	n/a	chr15:43478084-43478097 chr15:43478084-43478097
27	POLR2A	chr15:43477116-43478191	PANC-1	pancreas:	n/a	n/a
28	MYC	chr15:43477220-43478627	NB4	blood:	n/a	n/a
29	POLR2A	chr15:43478149-43478379	GM12891	blood:	n/a	n/a
30	SIN3AK20	chr15:43477938-43478346	SK-N-SH	brain:	n/a	n/a
31	POLR2A	chr15:43477305-43478424	Hela-S3	cervix:	n/a	n/a
32	MAZ	chr15:43477254-43478488	Hela-S3	cervix:	n/a	n/a
33	CTCF	chr15:43477948-43478245	GM19240	blood:	n/a	chr15:43478084-43478097 chr15:43478084-43478097
34	CTCF	chr15:43477143-43478704	SK-N-SH	brain:	n/a	chr15:43478084-43478097 chr15:43478084-43478097
35	GABPA	chr15:43477274-43478479	SK-N-SH	brain:	n/a	n/a
36	GABPA	chr15:43477902-43478323	A549	lung:	n/a	n/a
37	BACH1	chr15:43478107-43478377	H1-hESC	embryonic stem cell:	n/a	n/a
38	ELF1	chr15:43477272-43478461	GM12878	blood:	n/a	chr15:43477613-43477622 chr15:43477612-43477623
39	POLR2A	chr15:43477328-43478339	NB4	blood:	n/a	n/a
40	CTCF	chr15:43477951-43478241	Fibrobl	skin:	n/a	chr15:43478084-43478097 chr15:43478084-43478097
41	SPI1	chr15:43477990-43478185	K562	blood:	n/a	n/a
42	POLR2A	chr15:43477286-43478477	GM18505	blood:	n/a	n/a
43	POLR2A	chr15:43477242-43478307	K562	blood:	n/a	n/a
44	ELF1	chr15:43477282-43478267	K562	blood:	n/a	chr15:43477613-43477622 chr15:43477612-43477623
45	POLR2A	chr15:43477199-43478537	K562	blood:	n/a	n/a
46	CTCF	chr15:43478050-43478215	Lung_OC	lung:	n/a	chr15:43478084-43478097 chr15:43478084-43478097
47	POLR2A	chr15:43477923-43478451	Hela-S3	cervix:	n/a	n/a
48	GABPA	chr15:43478000-43478179	HepG2	liver:	n/a	n/a
49	ELF1	chr15:43477247-43478573	GM12878	blood:	n/a	chr15:43477613-43477622 chr15:43477612-43477623
50	POLR2A	chr15:43477925-43478454	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:43476285..43479868-chr15:43558571..43560739,3	K562	blood:
2	chr15:43476272..43478901-chr15:43620777..43622927,4	K562	blood:
3	chr15:43478112..43478717-chr17:42401330..42402214,2	Hela-S3	cervix:
4	chr15:43477542..43478284-chr20:25604261..25605123,2	Hela-S3	cervix:
5	chr15:43414543..43416437-chr15:43476770..43479731,2	K562	blood:
6	chr15:43477582..43480144-chr15:43497635..43499944,2	K562	blood:
7	chr15:43460424..43462230-chr15:43476704..43478906,2	MCF-7	breast:
8	chr15:43413837..43416869-chr15:43476770..43480897,4	K562	blood:
9	chr15:43471322..43474436-chr15:43477554..43479456,3	K562	blood:
10	chr15:43212538..43214244-chr15:43477789..43479955,2	K562	blood:
11	chr15:43478113..43480240-chr15:43513375..43516202,2	K562	blood:
12	chr15:43451426..43453660-chr15:43475847..43478396,2	K562	blood:
13	chr15:43477046..43479733-chr15:43513135..43515650,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261687	TF binding region
CCNDBP1	TF binding region
ENSG00000104055	Chromatin interaction
ENSG00000137842	Chromatin interaction
ENSG00000128881	Chromatin interaction
ENSG00000261679	Chromatin interaction
ENSG00000213742	Chromatin interaction
ENSG00000168806	Chromatin interaction
ENSG00000170191	Chromatin interaction
ENSG00000168803	Chromatin interaction
ENSG00000013306	Chromatin interaction
ENSG00000166947	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10048057	1.00[EUR][1000 genomes]
rs10083725	1.00[EUR][1000 genomes]
rs10152237	1.00[EUR][1000 genomes]
rs10220812	1.00[EUR][1000 genomes]
rs1042168	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10438267	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10467909	1.00[EUR][1000 genomes]
rs11504654	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11504655	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12324094	1.00[EUR][1000 genomes]
rs12324436	1.00[EUR][1000 genomes]
rs12324573	1.00[EUR][1000 genomes]
rs1474199	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1520519	1.00[EUR][1000 genomes]
rs16957409	1.00[EUR][1000 genomes]
rs16957462	1.00[EUR][1000 genomes]
rs16957499	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16957502	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16957507	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1863601	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2004809	1.00[EUR][1000 genomes]
rs2271964	1.00[EUR][1000 genomes]
rs2271965	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28444219	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28539201	1.00[EUR][1000 genomes]
rs3177296	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34222269	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4419035	1.00[EUR][1000 genomes]
rs505276	1.00[EUR][1000 genomes]
rs58059509	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59401274	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59900401	1.00[EUR][1000 genomes]
rs60435696	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60481556	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61268760	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61343376	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61711558	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7162620	1.00[EUR][1000 genomes]
rs7162971	1.00[EUR][1000 genomes]
rs7171797	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7176183	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7182685	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7183024	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8030850	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8035881	1.00[EUR][1000 genomes]
rs8039342	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8040769	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8040960	1.00[EUR][1000 genomes]
rs8041312	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9806236	1.00[EUR][1000 genomes]
rs9806629	1.00[EUR][1000 genomes]
rs9972314	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9972367	1.00[EUR][1000 genomes]
rs999025	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525461	chr15:43062548-43482127	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
2	nsv1044522	chr15:43115348-43658417	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv569241	chr15:43201109-43522922	Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv904136	chr15:43257475-43482127	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	nsv904139	chr15:43268970-43482127	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv1044508	chr15:43270637-43658417	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv904144	chr15:43276345-43482127	Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
8	esv1802035	chr15:43370916-43487742	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats 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	28 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	chr15:43476800-43478800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr15:43477000-43478200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:43477000-43478800	Active TSS	H9 Cell Line	embryonic stem cell
4	chr15:43477000-43479000	Active TSS	Brain Hippocampus Middle	brain
5	chr15:43477000-43479200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr15:43477200-43478200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr15:43477200-43478200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
8	chr15:43477200-43478200	Active TSS	Primary T cells from cord blood	blood
9	chr15:43477200-43478200	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr15:43477200-43478200	Active TSS	Brain Substantia Nigra	brain
11	chr15:43477200-43478200	Active TSS	Fetal Lung	lung
12	chr15:43477200-43478200	Active TSS	Stomach Smooth Muscle	stomach
13	chr15:43477200-43478200	Active TSS	HSMM	muscle
14	chr15:43477200-43478200	Active TSS	NHEK	skin
15	chr15:43477200-43478200	Active TSS	Osteobl	bone
16	chr15:43477200-43478400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr15:43477200-43478400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr15:43477200-43478400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
19	chr15:43477200-43478400	Active TSS	Muscle Satellite Cultured Cells	--
20	chr15:43477200-43478400	Active TSS	Psoas Muscle	Psoas
21	chr15:43477200-43478600	Active TSS	H1 Cell Line	embryonic stem cell
22	chr15:43477200-43478600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr15:43477200-43478600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr15:43477200-43478600	Active TSS	Brain Anterior Caudate	brain
25	chr15:43477200-43478600	Active TSS	Colon Smooth Muscle	Colon
26	chr15:43477200-43478600	Active TSS	Fetal Kidney	kidney
27	chr15:43477200-43478800	Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr15:43477200-43478800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr15:43477200-43478800	Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr15:43477200-43478800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr15:43477200-43478800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr15:43477200-43478800	Active TSS	Right Ventricle	heart
33	chr15:43477200-43479000	Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr15:43477200-43479000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr15:43477200-43479000	Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr15:43477200-43479000	Active TSS	NHDF-Ad	bronchial
37	chr15:43477200-43479200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
38	chr15:43477200-43479600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
39	chr15:43477400-43478200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr15:43477400-43478200	Active TSS	Primary monocytes fromperipheralblood	blood
41	chr15:43477400-43478200	Active TSS	Primary neutrophils fromperipheralblood	blood
42	chr15:43477400-43478200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr15:43477400-43478200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
44	chr15:43477400-43478200	Active TSS	Rectal Mucosa Donor 29	rectum
45	chr15:43477400-43478200	Active TSS	Hela-S3	cervix
46	chr15:43477400-43478200	Active TSS	Monocytes-CD14+_RO01746	blood
47	chr15:43477400-43478400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr15:43477400-43478400	Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr15:43477400-43478400	Active TSS	Primary T helper naive cells from peripheral blood	blood
50	chr15:43477400-43478400	Active TSS	Primary T helper naive cells fromperipheralblood	blood

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