Variant report

Variant	rs74025811
Chromosome Location	chr15:74753112-74753113
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	MYC	chr15:74752923-74753782	MCF10A-Er-Src	breast:	n/a	chr15:74752933-74752943
2	POLR2A	chr15:74752970-74754758	GM12892	blood:	n/a	n/a
3	HEY1	chr15:74753103-74754160	K562	blood:	n/a	n/a
4	POLR2A	chr15:74752940-74754342	PFSK-1	brain:	n/a	n/a
5	RELA	chr15:74752633-74754618	GM18505	blood:	n/a	chr15:74753521-74753530 chr15:74753521-74753530
6	GABPA	chr15:74753095-74754105	A549	lung:	n/a	chr15:74753567-74753576
7	POLR2A	chr15:74753096-74754087	MCF-7	breast:	n/a	n/a
8	GABPA	chr15:74752958-74754161	SK-N-SH	brain:	n/a	chr15:74753567-74753576
9	POLR2A	chr15:74752546-74754142	SK-N-MC	brain:	n/a	n/a
10	NR2F2	chr15:74753092-74754632	K562	blood:	n/a	n/a
11	MAX	chr15:74753062-74754126	HepG2	liver:	n/a	n/a
12	TBP	chr15:74752690-74754528	GM12878	blood:	n/a	n/a
13	TEAD4	chr15:74752688-74754689	K562	blood:	n/a	chr15:74754395-74754404
14	POLR2A	chr15:74752815-74754683	H1-hESC	embryonic stem cell:	n/a	n/a
15	MXI1	chr15:74752840-74754093	IMR90	lung:	n/a	n/a
16	RELA	chr15:74752748-74754380	GM12892	blood:	n/a	chr15:74753521-74753530 chr15:74753521-74753530
17	ELF1	chr15:74753054-74754367	HCT-116	colon:	n/a	chr15:74753516-74753527 chr15:74753613-74753626
18	PML	chr15:74753072-74754418	K562	blood:	n/a	n/a
19	HCFC1	chr15:74752577-74755009	Hela-S3	cervix:	n/a	n/a
20	TBL1XR1	chr15:74752941-74754328	K562	blood:	n/a	n/a
21	GABPA	chr15:74752768-74754487	MCF-7	breast:	n/a	chr15:74753567-74753576
22	WRNIP1	chr15:74752681-74754007	GM12878	blood:	n/a	n/a
23	SIN3AK20	chr15:74753092-74754068	PANC-1	pancreas:	n/a	n/a
24	MAX	chr15:74752715-74754257	GM12878	blood:	n/a	chr15:74752933-74752943
25	POLR2A	chr15:74752657-74754599	GM12878	blood:	n/a	n/a
26	HCFC1	chr15:74752969-74754144	K562	blood:	n/a	n/a
27	CTCF	chr15:74753060-74753210	RPTEC	kidney:	n/a	n/a
28	UBTF	chr15:74753064-74754612	K562	blood:	n/a	n/a
29	MAX	chr15:74753106-74754167	HepG2	liver:	n/a	n/a
30	MAX	chr15:74753104-74754051	A549	lung:	n/a	n/a
31	POLR2A	chr15:74753109-74754167	Hela-S3	cervix:	n/a	n/a
32	RELA	chr15:74752603-74754516	GM12891	blood:	n/a	chr15:74753521-74753530 chr15:74753521-74753530
33	SPI1	chr15:74752625-74753115	GM12878	blood:	n/a	n/a
34	GABPA	chr15:74752900-74754174	SK-N-SH	brain:	n/a	chr15:74753567-74753576
35	ELK4	chr15:74753054-74754583	Hela-S3	cervix:	n/a	chr15:74753518-74753527 chr15:74753517-74753528 chr15:74753518-74753526
36	REST	chr15:74752977-74753989	H1-neurons	neurons:	n/a	chr15:74753423-74753436
37	POLR2A	chr15:74753112-74754119	K562	blood:	n/a	n/a
38	CHD1	chr15:74752655-74754164	GM12878	blood:	n/a	n/a
39	MXI1	chr15:74752547-74754695	SK-N-SH	brain:	n/a	n/a
40	TBP	chr15:74752810-74754636	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr15:74753077-74753998	HUVEC	blood vessel:	n/a	n/a
42	MYC	chr15:74752894-74753793	MCF10A-Er-Src	breast:	n/a	chr15:74752933-74752943
43	ELF1	chr15:74752991-74754206	MCF-7	breast:	n/a	chr15:74753516-74753527 chr15:74753613-74753626
44	GABPA	chr15:74753066-74754159	MCF-7	breast:	n/a	chr15:74753567-74753576
45	POLR2A	chr15:74752578-74754536	GM12892	blood:	n/a	n/a
46	ZNF143	chr15:74753021-74754152	K562	blood:	n/a	chr15:74753535-74753553 chr15:74753531-74753546 chr15:74753530-74753549
47	POLR2A	chr15:74752984-74754731	HepG2	liver:	n/a	n/a
48	TBL1XR1	chr15:74752711-74754600	GM12878	blood:	n/a	n/a
49	MAFK	chr15:74752960-74753806	HepG2	liver:	n/a	chr15:74753090-74753104
50	GATA1	chr15:74752879-74754546	PBDE	blood:	n/a	chr15:74753063-74753080

No.	Distal block	Cell Line	Cell type
1	chr15:74740802..74742938-chr15:74751903..74754187,4	K562	blood:
2	chr15:74724949..74728351-chr15:74752030..74754909,4	K562	blood:
3	chr15:74749825..74755412-chr15:74831975..74836764,7	K562	blood:
4	chr15:74753057..74753812-chr17:77751501..77752049,2	Hela-S3	cervix:
5	chr15:74724949..74727531-chr15:74752948..74755543,2	K562	blood:
6	chr15:74752565..74755217-chr15:74831873..74834547,2	MCF-7	breast:
7	chr15:74741955..74744869-chr15:74750008..74755464,5	K562	blood:
8	chr15:74752995..74753678-chr17:56413257..56414193,2	NB4	blood:
9	chr15:74751346..74753406-chr15:74872980..74874906,2	K562	blood:
10	chr15:74752377..74755555-chr15:74772398..74775932,4	MCF-7	breast:
11	chr15:74753045..74753664-chr17:21279454..21280392,2	HCT-116	colon:
12	chr15:74744211..74746229-chr15:74751385..74754144,2	MCF-7	breast:
13	chr15:74753110..74753692-chr15:74907692..74908490,2	MCF-7	breast:
14	chr15:74752041..74753655-chr15:74907402..74909986,3	K562	blood:
15	chr14:34419678..34420337-chr15:74752919..74753907,2	Hela-S3	cervix:
16	chr15:74751343..74754967-chr15:74831975..74835233,5	K562	blood:
17	chr15:74751774..74754602-chr15:74987400..74989019,2	K562	blood:
18	chr15:74751104..74753940-chr15:74907025..74909601,4	MCF-7	breast:

Variant related genes	Relation type
UBL7-AS1	TF binding region
ENSG00000179335	Chromatin interaction
ENSG00000264399	Chromatin interaction
ENSG00000173894	Chromatin interaction
ENSG00000184185	Chromatin interaction
ENSG00000260919	Chromatin interaction
ENSG00000138629	Chromatin interaction
ENSG00000138623	Chromatin interaction
ENSG00000260103	Chromatin interaction
ENSG00000129521	Chromatin interaction
ENSG00000179151	Chromatin interaction
ENSG00000179361	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11629492	0.96[EUR][1000 genomes]
rs11632086	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs11633697	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs11637129	0.93[AFR][1000 genomes]
rs17343071	0.95[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs28362873	0.84[AFR][1000 genomes]
rs28362914	0.85[AFR][1000 genomes]
rs55936349	0.95[AFR][1000 genomes]
rs56253831	0.97[AFR][1000 genomes]
rs57317343	0.98[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs57592570	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs74025808	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs74025809	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs74025810	0.97[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482615	chr15:74593625-74757962	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
2	esv1809847	chr15:74734500-74948063	Genic enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 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	chr15:74749600-74753200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr15:74752400-74753200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr15:74752400-74753200	Flanking Active TSS	Brain Germinal Matrix	brain
4	chr15:74752400-74753400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
5	chr15:74752400-74753400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr15:74752400-74753400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr15:74752400-74753400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr15:74752400-74754200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr15:74752600-74753200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr15:74752600-74753200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
11	chr15:74752600-74753200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
12	chr15:74752600-74753200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
13	chr15:74752600-74753200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
14	chr15:74752600-74753200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
15	chr15:74752600-74753200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
16	chr15:74752600-74753200	Flanking Active TSS	Brain Anterior Caudate	brain
17	chr15:74752600-74753200	Flanking Active TSS	Brain Cingulate Gyrus	brain
18	chr15:74752600-74753200	Flanking Active TSS	Brain Hippocampus Middle	brain
19	chr15:74752600-74753200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr15:74752600-74753200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
21	chr15:74752600-74753200	Flanking Active TSS	Fetal Brain Female	brain
22	chr15:74752600-74753200	Flanking Active TSS	Fetal Heart	heart
23	chr15:74752600-74753200	Flanking Active TSS	Fetal Thymus	thymus
24	chr15:74752600-74753200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
25	chr15:74752600-74753200	Flanking Active TSS	Rectal Smooth Muscle	rectum
26	chr15:74752600-74753200	Flanking Active TSS	Hela-S3	cervix
27	chr15:74752600-74753200	Active TSS	HepG2	liver
28	chr15:74752600-74753200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr15:74752600-74753400	Flanking Active TSS	Primary B cells from cord blood	blood
30	chr15:74752600-74753400	Flanking Active TSS	Primary T cells from cord blood	blood
31	chr15:74752600-74753400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
32	chr15:74752600-74753400	Flanking Active TSS	Primary hematopoietic stem cells	blood
33	chr15:74752600-74753400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
34	chr15:74752600-74753400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
35	chr15:74752600-74753400	Flanking Active TSS	Adipose Nuclei	Adipose
36	chr15:74752600-74753400	Flanking Active TSS	Liver	Liver
37	chr15:74752600-74753400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr15:74752600-74753400	Flanking Active TSS	Dnd41	blood
39	chr15:74752600-74753400	Flanking Active TSS	HUVEC	blood vessel
40	chr15:74752600-74754000	Active TSS	Brain Substantia Nigra	brain
41	chr15:74752600-74754200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr15:74752600-74754200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr15:74752600-74754400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr15:74752600-74754400	Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr15:74752600-74754400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr15:74752600-74754400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr15:74752600-74754400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
48	chr15:74752600-74754400	Active TSS	Psoas Muscle	Psoas
49	chr15:74752600-74754400	Active TSS	HSMM	muscle
50	chr15:74752600-74754600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell

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