Variant report

Variant	rs74030863
Chromosome Location	chr15:83655104-83655105
allele	A/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	ELF1	chr15:83654534-83655218	GM12878	blood:	n/a	chr15:83654951-83654960 chr15:83654946-83654955
2	TBP	chr15:83654495-83655392	H1-hESC	embryonic stem cell:	n/a	n/a
3	USF1	chr15:83654421-83655197	A549	lung:	n/a	n/a
4	MAX	chr15:83654300-83655220	MCF-7	breast:	n/a	chr15:83655147-83655157
5	POLR2A	chr15:83654009-83655416	GM12878	blood:	n/a	n/a
6	USF1	chr15:83654457-83655238	A549	lung:	n/a	n/a
7	EP300	chr15:83654329-83655289	A549	lung:	n/a	n/a
8	GABPA	chr15:83654453-83655278	K562	blood:	n/a	chr15:83654951-83654958
9	HEY1	chr15:83654626-83655198	K562	blood:	n/a	n/a
10	POLR2A	chr15:83654397-83655248	ECC-1	luminal epithelium:	n/a	n/a
11	ZBTB33	chr15:83654356-83655498	SK-N-SH	brain:	n/a	chr15:83654909-83654918
12	POLR2A	chr15:83654446-83655241	HCT-116	colon:	n/a	n/a
13	ETS1	chr15:83654308-83655256	A549	lung:	n/a	chr15:83654947-83654957 chr15:83654952-83654961 chr15:83654946-83654957 chr15:83654943-83654956 chr15:83654909-83654918
14	TBP	chr15:83654669-83655145	K562	blood:	n/a	n/a
15	POLR2A	chr15:83654454-83655502	Hela-S3	cervix:	n/a	n/a
16	GTF2F1	chr15:83654112-83655466	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr15:83654444-83655300	GM18951	blood:	n/a	n/a
18	POLR2A	chr15:83654347-83655273	SK-N-SH	brain:	n/a	n/a
19	POLR2A	chr15:83654557-83655490	GM12878	blood:	n/a	n/a
20	POLR2A	chr15:83654097-83655348	ProgFib	skin:	n/a	n/a
21	POLR2A	chr15:83654514-83655394	U87	brain:	n/a	n/a
22	BRCA1	chr15:83654482-83655115	GM12878	blood:	n/a	chr15:83654909-83654918
23	GABPA	chr15:83654375-83655256	HL-60	blood:	n/a	chr15:83654951-83654958
24	POLR2A	chr15:83654686-83655183	K562	blood:	n/a	n/a
25	POLR2A	chr15:83654683-83655386	K562	blood:	n/a	n/a
26	POLR2A	chr15:83654297-83655350	HUVEC	blood vessel:	n/a	n/a
27	TAF1	chr15:83654422-83655369	ECC-1	luminal epithelium:	n/a	n/a
28	POU2F2	chr15:83654541-83655230	GM12891	blood:	n/a	n/a
29	STAT1	chr15:83654443-83655296	GM12878	blood:	n/a	chr15:83654685-83654699 chr15:83654688-83654696
30	PAX5	chr15:83654612-83655161	GM12878	blood:	n/a	chr15:83654684-83654694
31	HCFC1	chr15:83654512-83655338	K562	blood:	n/a	n/a
32	ZBTB33	chr15:83654594-83655188	K562	blood:	n/a	chr15:83654909-83654918
33	POLR2A	chr15:83654431-83655501	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr15:83654280-83655272	HEK293	kidney:	n/a	n/a
35	POLR2A	chr15:83654438-83655108	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr15:83654470-83655458	Hela-S3	cervix:	n/a	n/a
37	MAX	chr15:83654431-83655260	Hela-S3	cervix:	n/a	chr15:83655147-83655157
38	POLR2A	chr15:83654516-83655336	Raji	blood:	n/a	n/a
39	CTCF	chr15:83655100-83655250	HBMEC	blood vessel:	n/a	n/a
40	USF1	chr15:83654493-83655162	ECC-1	luminal epithelium:	n/a	n/a
41	TAF1	chr15:83654385-83655505	MCF-7	breast:	n/a	n/a
42	USF1	chr15:83654566-83655109	HepG2	liver:	n/a	n/a
43	POLR2A	chr15:83654351-83655339	GM12892	blood:	n/a	n/a
44	POLR2A	chr15:83654305-83655520	PFSK-1	brain:	n/a	n/a
45	POLR2A	chr15:83654295-83655504	GM12892	blood:	n/a	n/a
46	POLR2A	chr15:83654479-83655237	HCT-116	colon:	n/a	n/a
47	POLR2A	chr15:83654500-83655284	PFSK-1	brain:	n/a	n/a
48	MTA3	chr15:83654138-83655414	GM12878	blood:	n/a	n/a
49	TAF1	chr15:83654715-83655189	HepG2	liver:	n/a	n/a
50	MAX	chr15:83654374-83655394	NB4	blood:	n/a	chr15:83655147-83655157

No.	Distal block	Cell Line	Cell type
1	chr15:83620048..83621695-chr15:83654415..83656923,3	MCF-7	breast:
2	chr15:83653840..83656336-chr16:14164975..14167418,2	MCF-7	breast:
3	chr15:83619377..83622023-chr15:83652376..83655486,3	MCF-7	breast:
4	chr15:83417301..83420117-chr15:83653856..83657124,3	MCF-7	breast:
5	chr15:83517113..83521654-chr15:83652714..83657006,7	MCF-7	breast:
6	chr15:83652926..83655970-chr15:83874776..83878125,3	MCF-7	breast:
7	chr15:83654223..83656996-chr15:83678905..83681492,4	MCF-7	breast:
8	chr15:83654440..83655303-chr16:1542962..1543509,2	Hela-S3	cervix:

Variant related genes	Relation type
HOMER2	TF binding region
ENSG00000100726	Chromatin interaction
ENSG00000103942	Chromatin interaction
ENSG00000166503	Chromatin interaction
ENSG00000169609	Chromatin interaction
ENSG00000186260	Chromatin interaction
ENSG00000260608	Chromatin interaction
ENSG00000250988	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs2123161	0.94[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59512422	1.00[EUR][1000 genomes]
rs61738562	1.00[AMR][1000 genomes]
rs6603039	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7176998	0.83[AFR][1000 genomes]
rs8027909	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8028887	0.83[AFR][1000 genomes]
rs8028925	1.00[EUR][1000 genomes]
rs8031595	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8041565	0.83[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	nsv1040336	chr15:83578947-83768335	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv482308	chr15:83584918-83747362	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 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	chr15:83654000-83656000	Active TSS	Colonic Mucosa	Colon
2	chr15:83654000-83656400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr15:83654200-83655600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr15:83654200-83655600	Active TSS	Fetal Heart	heart
5	chr15:83654200-83655600	Active TSS	Fetal Muscle Trunk	muscle
6	chr15:83654200-83655600	Active TSS	Lung	lung
7	chr15:83654200-83655600	Active TSS	Right Ventricle	heart
8	chr15:83654200-83655800	Active TSS	H9 Cell Line	embryonic stem cell
9	chr15:83654200-83655800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr15:83654200-83655800	Active TSS	Aorta	Aorta
11	chr15:83654200-83656000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr15:83654200-83656000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr15:83654200-83656000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr15:83654200-83656000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
15	chr15:83654200-83656200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr15:83654400-83655400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
17	chr15:83654400-83655400	Active TSS	Primary T helper cells PMA-I stimulated	--
18	chr15:83654400-83655400	Active TSS	Primary T killer memory cells from peripheral blood	blood
19	chr15:83654400-83655400	Active TSS	Thymus	Thymus
20	chr15:83654400-83655600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr15:83654400-83655600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr15:83654400-83655600	Active TSS	Brain Anterior Caudate	brain
23	chr15:83654400-83655600	Active TSS	Brain Cingulate Gyrus	brain
24	chr15:83654400-83655600	Active TSS	Fetal Brain Male	brain
25	chr15:83654400-83655600	Active TSS	Stomach Mucosa	stomach
26	chr15:83654400-83655800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr15:83654400-83655800	Active TSS	Brain Inferior Temporal Lobe	brain
28	chr15:83654400-83655800	Active TSS	Gastric	stomach
29	chr15:83654400-83655800	Active TSS	Ovary	ovary
30	chr15:83654400-83655800	Active TSS	Rectal Smooth Muscle	rectum
31	chr15:83654400-83655800	Active TSS	Small Intestine	intestine
32	chr15:83654400-83656000	Active TSS	Brain Hippocampus Middle	brain
33	chr15:83654400-83656000	Active TSS	Rectal Mucosa Donor 29	rectum
34	chr15:83654400-83656200	Active TSS	Psoas Muscle	Psoas
35	chr15:83654400-83656400	Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr15:83654600-83655200	Active TSS	Primary monocytes fromperipheralblood	blood
37	chr15:83654600-83655200	Active TSS	Primary B cells from cord blood	blood
38	chr15:83654600-83655200	Active TSS	Primary T cells from cord blood	blood
39	chr15:83654600-83655200	Active TSS	Rectal Mucosa Donor 31	rectum
40	chr15:83654600-83655400	Active TSS	Primary neutrophils fromperipheralblood	blood
41	chr15:83654600-83655400	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
42	chr15:83654600-83655400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
43	chr15:83654600-83655400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
44	chr15:83654600-83655400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
45	chr15:83654600-83655400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
46	chr15:83654600-83655400	Active TSS	Cortex derived primary cultured neurospheres	brain
47	chr15:83654600-83655400	Active TSS	Liver	Liver
48	chr15:83654600-83655400	Active TSS	Fetal Brain Female	brain
49	chr15:83654600-83655400	Active TSS	Spleen	Spleen
50	chr15:83654600-83655600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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