Variant report

Variant	rs2568484
Chromosome Location	chr15:78729917-78729918
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	chr15:78729851-78730917	ECC-1	luminal epithelium:	n/a	n/a
2	EP300	chr15:78729743-78730747	K562	blood:	n/a	chr15:78730383-78730399
3	SIN3AK20	chr15:78729604-78731522	MCF-7	breast:	n/a	n/a
4	MXI1	chr15:78729797-78731602	HepG2	liver:	n/a	n/a
5	POLR2A	chr15:78729768-78730831	GM12891	blood:	n/a	n/a
6	TAF1	chr15:78729742-78731273	A549	lung:	n/a	n/a
7	BCL3	chr15:78729858-78730622	A549	lung:	n/a	chr15:78730387-78730396 chr15:78730444-78730453
8	SRF	chr15:78729785-78730947	MCF-7	breast:	n/a	chr15:78730122-78730132
9	HEY1	chr15:78729775-78730412	K562	blood:	n/a	chr15:78730387-78730402
10	TAF1	chr15:78729730-78731552	K562	blood:	n/a	n/a
11	POLR2A	chr15:78729509-78731589	HL-60	blood:	n/a	n/a
12	POU2F2	chr15:78729763-78730878	GM12878	blood:	n/a	n/a
13	FOSL2	chr15:78729916-78730831	A549	lung:	n/a	n/a
14	TAF1	chr15:78729757-78730867	PFSK-1	brain:	n/a	n/a
15	TCF12	chr15:78729518-78731361	A549	lung:	n/a	n/a
16	MYC	chr15:78729717-78730640	K562	blood:	n/a	chr15:78730153-78730162
17	BCL3	chr15:78729706-78730857	A549	lung:	n/a	chr15:78730387-78730396 chr15:78730444-78730453 chr15:78730637-78730650
18	JUND	chr15:78729777-78731496	K562	blood:	n/a	chr15:78731045-78731054 chr15:78731288-78731300
19	HEY1	chr15:78729897-78731727	HepG2	liver:	n/a	chr15:78730387-78730402
20	MAX	chr15:78729885-78730789	H1-hESC	embryonic stem cell:	n/a	chr15:78730153-78730162
21	MYC	chr15:78729895-78730750	MCF-7	breast:	n/a	chr15:78730153-78730162
22	POLR2A	chr15:78729551-78731141	NB4	blood:	n/a	n/a
23	YY1	chr15:78729762-78730393	GM12892	blood:	n/a	n/a
24	TBL1XR1	chr15:78729731-78730959	GM12878	blood:	n/a	n/a
25	REST	chr15:78729738-78731017	A549	lung:	n/a	chr15:78730823-78730836 chr15:78730527-78730540
26	HCFC1	chr15:78729467-78732274	Hela-S3	cervix:	n/a	n/a
27	BCLAF1	chr15:78729866-78730812	GM12878	blood:	n/a	chr15:78730387-78730396 chr15:78730444-78730453 chr15:78730637-78730650
28	MAX	chr15:78729609-78731657	A549	lung:	n/a	chr15:78730153-78730162 chr15:78731240-78731250
29	SP1	chr15:78729866-78730998	A549	lung:	n/a	chr15:78730387-78730396 chr15:78730444-78730453 chr15:78730443-78730455 chr15:78730388-78730397 chr15:78730386-78730397 chr15:78730443-78730455 chr15:78730386-78730398 chr15:78730647-78730656 chr15:78730444-78730458 chr15:78730386-78730398
30	POLR2A	chr15:78729503-78730865	SK-N-SH	brain:	n/a	n/a
31	TBP	chr15:78729863-78730881	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr15:78729765-78730840	HUVEC	blood vessel:	n/a	n/a
33	POLR2A	chr15:78729474-78731563	PANC-1	pancreas:	n/a	n/a
34	POLR2A	chr15:78729654-78731614	GM12892	blood:	n/a	n/a
35	POLR2A	chr15:78729909-78731189	MCF-7	breast:	n/a	n/a
36	MAX	chr15:78729834-78730902	A549	lung:	n/a	chr15:78730153-78730162
37	ATF3	chr15:78729724-78730747	A549	lung:	n/a	n/a
38	GABPA	chr15:78729913-78731184	MCF-7	breast:	n/a	n/a
39	SIN3AK20	chr15:78729637-78731026	MCF-7	breast:	n/a	n/a
40	POLR2A	chr15:78729820-78731229	A549	lung:	n/a	n/a
41	POLR2A	chr15:78729595-78733509	K562	blood:	n/a	n/a
42	REST	chr15:78729633-78731773	H1-neurons	neurons:	n/a	chr15:78731014-78731027 chr15:78730823-78730836 chr15:78730527-78730540 chr15:78731005-78731023
43	MAZ	chr15:78729660-78731607	K562	blood:	n/a	chr15:78730153-78730162 chr15:78731240-78731250
44	POLR2A	chr15:78729675-78731618	GM19099	blood:	n/a	n/a
45	GATA3	chr15:78729662-78730903	A549	lung:	n/a	n/a
46	EP300	chr15:78729794-78730954	A549	lung:	n/a	chr15:78730383-78730399
47	FOXM1	chr15:78729744-78730748	GM12878	blood:	n/a	n/a
48	POLR2A	chr15:78729537-78731551	K562	blood:	n/a	n/a
49	POLR2A	chr15:78729643-78731630	GM12878	blood:	n/a	n/a
50	MAX	chr15:78729748-78731264	HepG2	liver:	n/a	chr15:78730153-78730162 chr15:78731240-78731250

No.	Distal block	Cell Line	Cell type
1	chr15:78600993..78601586-chr15:78729816..78730421,2	NB4	blood:
2	chr12:50676968..50677556-chr15:78729780..78730465,2	HCT-116	colon:
3	chr15:78590148..78593808-chr15:78728453..78731736,7	MCF-7	breast:
4	chr15:78729827..78730345-chr6:35699757..35700557,2	Hela-S3	cervix:
5	chr15:78587653..78594388-chr15:78727556..78733158,9	MCF-7	breast:
6	chr15:78582861..78585350-chr15:78727780..78730750,2	MCF-7	breast:
7	chr15:78590258..78594216-chr15:78729143..78732539,8	K562	blood:
8	chr15:78728533..78731605-chr15:78775460..78778377,3	K562	blood:
9	chr15:78729890..78730544-chr19:56111063..56111868,2	Hela-S3	cervix:
10	chr11:62608623..62609631-chr15:78729769..78730500,3	Hela-S3	cervix:
11	chr15:78589125..78595669-chr15:78728604..78731599,7	K562	blood:
12	chr15:78728558..78732848-chr15:78754139..78757790,4	K562	blood:
13	chr15:78729839..78731255-chr19:49122215..49122974,3	NB4	blood:

Variant related genes	Relation type
IREB2	TF binding region
ENSG00000171443	Chromatin interaction
ENSG00000063176	Chromatin interaction
ENSG00000136381	Chromatin interaction
ENSG00000063177	Chromatin interaction
ENSG00000050405	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000259562	Chromatin interaction
ENSG00000140395	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11072767	0.93[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12441256	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1847528	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2036530	0.86[YRI][hapmap]
rs2036531	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2055587	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2230940	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2568486	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2568491	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2568492	1.00[ASW][hapmap];0.91[LWK][hapmap];0.93[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2656060	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2656064	0.95[AFR][1000 genomes]
rs2656066	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2656067	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2938672	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2958720	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4886569	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4886570	1.00[AMR][1000 genomes]
rs4887060	1.00[ASW][hapmap];0.91[LWK][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6495302	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7168018	1.00[AMR][1000 genomes]
rs73463009	1.00[AMR][1000 genomes]
rs73463024	1.00[AMR][1000 genomes]
rs73463098	1.00[AMR][1000 genomes]
rs8023649	0.85[YRI][hapmap]
rs8026728	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs905741	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs905742	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9788758	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9972290	0.93[YRI][hapmap];0.89[AFR][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	nsv529491	chr15:77932659-78751516	Genic enhancers Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv917303	chr15:78491050-79205255	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
3	nsv833063	chr15:78605215-78754945	Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 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	chr15:78729400-78730000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:78729400-78730000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
3	chr15:78729400-78730000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
4	chr15:78729400-78730000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr15:78729400-78730000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr15:78729400-78730000	Flanking Active TSS	Dnd41	blood
7	chr15:78729400-78730000	Flanking Active TSS	K562	blood
8	chr15:78729400-78730200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr15:78729400-78730200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
10	chr15:78729400-78730200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr15:78729400-78730800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr15:78729400-78731800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr15:78729600-78730000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr15:78729600-78730000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr15:78729600-78730000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr15:78729600-78730000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr15:78729600-78730000	Flanking Active TSS	Primary B cells from cord blood	blood
18	chr15:78729600-78730000	Flanking Active TSS	Primary B cells from peripheral blood	blood
19	chr15:78729600-78730000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
20	chr15:78729600-78730000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
21	chr15:78729600-78730000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
22	chr15:78729600-78730000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
23	chr15:78729600-78730000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
24	chr15:78729600-78730000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
25	chr15:78729600-78730000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
26	chr15:78729600-78730000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
27	chr15:78729600-78730000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr15:78729600-78730000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
29	chr15:78729600-78730000	Flanking Active TSS	Brain Anterior Caudate	brain
30	chr15:78729600-78730000	Flanking Active TSS	Brain Cingulate Gyrus	brain
31	chr15:78729600-78730000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr15:78729600-78730000	Flanking Active TSS	Colon Smooth Muscle	Colon
33	chr15:78729600-78730000	Flanking Active TSS	Duodenum Mucosa	Duodenum
34	chr15:78729600-78730000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
35	chr15:78729600-78730000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
36	chr15:78729600-78730000	Flanking Active TSS	Fetal Brain Male	brain
37	chr15:78729600-78730000	Flanking Active TSS	Fetal Intestine Large	intestine
38	chr15:78729600-78730000	Flanking Active TSS	Fetal Intestine Small	intestine
39	chr15:78729600-78730000	Flanking Active TSS	Fetal Lung	lung
40	chr15:78729600-78730000	Flanking Active TSS	Placenta	Placenta
41	chr15:78729600-78730000	Flanking Active TSS	Fetal Stomach	stomach
42	chr15:78729600-78730000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
43	chr15:78729600-78730000	Flanking Active TSS	Rectal Smooth Muscle	rectum
44	chr15:78729600-78730000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr15:78729600-78730000	Flanking Active TSS	Spleen	Spleen
46	chr15:78729600-78730000	Flanking Active TSS	GM12878-XiMat	blood
47	chr15:78729600-78730000	Flanking Active TSS	HSMM	muscle
48	chr15:78729600-78730000	Flanking Active TSS	HSMMtube	muscle
49	chr15:78729600-78730000	Flanking Active TSS	NHDF-Ad	bronchial
50	chr15:78729600-78730000	Flanking Active TSS	NHLF	lung

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