Variant report

Variant	rs548014890
Chromosome Location	chr15:78424026-78424027
allele	G/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	chr15:78423615-78424179	K562	blood:	n/a	chr15:78424082-78424094 chr15:78423795-78423807 chr15:78423770-78423779 chr15:78423884-78423897
2	ELK4	chr15:78423683-78424047	HEK293	kidney:	n/a	chr15:78423887-78423898 chr15:78423888-78423897
3	POLR2A	chr15:78423712-78424220	HepG2	liver:	n/a	n/a
4	POLR2A	chr15:78423473-78424296	A549	lung:	n/a	n/a
5	BHLHE40	chr15:78423640-78424077	GM12878	blood:	n/a	chr15:78423807-78423823 chr15:78423792-78423808 chr15:78423657-78423673
6	MAX	chr15:78423624-78424503	ECC-1	luminal epithelium:	n/a	chr15:78423785-78423795
7	POLR2A	chr15:78423551-78424321	GM18951	blood:	n/a	n/a
8	TCF7L2	chr15:78423988-78424363	Hela-S3	cervix:	n/a	n/a
9	RAD21	chr15:78423649-78424035	GM12878	blood:	n/a	chr15:78423842-78423855 chr15:78423708-78423722
10	ZBTB7A	chr15:78423508-78424392	ECC-1	luminal epithelium:	n/a	chr15:78423899-78423908 chr15:78424072-78424079
11	STAT1	chr15:78423669-78424045	GM12878	blood:	n/a	chr15:78423688-78423700
12	POLR2A	chr15:78423846-78424156	HepG2	liver:	n/a	n/a
13	CTCF	chr15:78423438-78424195	K562	blood:	n/a	chr15:78423709-78423722
14	UBTF	chr15:78423637-78424283	K562	blood:	n/a	n/a
15	FOXM1	chr15:78423711-78424049	GM12878	blood:	n/a	n/a
16	HDAC2	chr15:78423648-78424100	HepG2	liver:	n/a	n/a
17	SMARCB1	chr15:78423646-78424399	Hela-S3	cervix:	n/a	n/a
18	ZBTB7A	chr15:78423621-78424151	HepG2	liver:	n/a	chr15:78423899-78423908 chr15:78424072-78424079
19	POLR2A	chr15:78423623-78424149	HCT-116	colon:	n/a	n/a
20	YY1	chr15:78423653-78424049	SK-N-SH_RA	brain:	n/a	chr15:78423788-78423802
21	POLR2A	chr15:78423466-78424316	A549	lung:	n/a	n/a
22	POLR2A	chr15:78423411-78424315	GM18526	blood:	n/a	n/a
23	MAX	chr15:78423653-78424472	MCF-7	breast:	n/a	chr15:78423785-78423795
24	MAFK	chr15:78423854-78424296	Hela-S3	cervix:	n/a	n/a
25	TBL1XR1	chr15:78423688-78424045	GM12878	blood:	n/a	n/a
26	REST	chr15:78423743-78424200	PFSK-1	brain:	n/a	chr15:78423794-78423807 chr15:78424021-78424034 chr15:78423812-78423825
27	POLR2A	chr15:78423852-78424169	A549	lung:	n/a	n/a
28	EGR1	chr15:78423689-78424224	K562	blood:	n/a	chr15:78424085-78424098 chr15:78424088-78424098 chr15:78424088-78424097 chr15:78423888-78423897 chr15:78424085-78424098 chr15:78424085-78424098
29	ZNF143	chr15:78423622-78424108	GM12878	blood:	n/a	chr15:78423769-78423779 chr15:78423625-78423635
30	BRCA1	chr15:78424000-78424096	Hela-S3	cervix:	n/a	n/a
31	RAD21	chr15:78423569-78424411	HCT-116	colon:	n/a	chr15:78423842-78423855 chr15:78423708-78423722
32	POLR2A	chr15:78423506-78424442	H1-neurons	neurons:	n/a	n/a
33	CTCF	chr15:78423593-78424075	A549	lung:	n/a	chr15:78423709-78423722
34	E2F6	chr15:78423457-78424202	K562	blood:	n/a	chr15:78424088-78424098 chr15:78424024-78424034 chr15:78423919-78423928 chr15:78423774-78423786 chr15:78423689-78423701 chr15:78423900-78423909 chr15:78423734-78423743
35	POLR2A	chr15:78423596-78424307	PANC-1	pancreas:	n/a	n/a
36	POLR2A	chr15:78423592-78424359	GM19193	blood:	n/a	n/a
37	MAX	chr15:78423811-78424176	HepG2	liver:	n/a	n/a
38	GABPA	chr15:78423708-78424114	HepG2	liver:	n/a	chr15:78423719-78423728 chr15:78423904-78423913
39	ETS1	chr15:78423453-78424177	K562	blood:	n/a	chr15:78423767-78423778 chr15:78423889-78423899 chr15:78423888-78423897 chr15:78423888-78423897 chr15:78423884-78423900 chr15:78423888-78423897 chr15:78423888-78423897 chr15:78423888-78423899 chr15:78424085-78424096 chr15:78423885-78423898 chr15:78423888-78423897
40	TBL1XR1	chr15:78423813-78424332	K562	blood:	n/a	n/a
41	TBP	chr15:78423469-78424424	K562	blood:	n/a	n/a
42	MAX	chr15:78423636-78424466	SK-N-SH	brain:	n/a	chr15:78423785-78423795
43	MAX	chr15:78423633-78424043	H1-hESC	embryonic stem cell:	n/a	chr15:78423785-78423795
44	CHD1	chr15:78423875-78424310	GM12878	blood:	n/a	n/a
45	RAD21	chr15:78423579-78424091	SK-N-SH_RA	brain:	n/a	chr15:78423842-78423855 chr15:78423708-78423722
46	SMARCC1	chr15:78423789-78424437	Hela-S3	cervix:	n/a	n/a
47	RAD21	chr15:78423626-78424028	GM12878	blood:	n/a	chr15:78423842-78423855 chr15:78423708-78423722
48	NFIC	chr15:78423708-78424539	SK-N-SH	brain:	n/a	n/a
49	TAF1	chr15:78423671-78424324	HepG2	liver:	n/a	n/a
50	CTCF	chr15:78423616-78424255	IMR90	lung:	n/a	chr15:78423709-78423722

No.	Distal block	Cell Line	Cell type
1	chr15:78421965..78424193-chr15:78465887..78467751,2	K562	blood:
2	chr15:78423938..78425787-chr15:78425913..78427617,2	K562	blood:
3	chr15:78423050..78427605-chr15:78432495..78437286,5	K562	blood:
4	chr15:78422180..78427678-chr15:78438636..78444300,13	MCF-7	breast:
5	chr15:78421103..78425437-chr15:78438436..78443517,9	MCF-7	breast:
6	chr15:78422233..78425731-chr15:78438987..78443227,7	K562	blood:
7	chr15:78423820..78425369-chr15:78574288..78576188,2	K562	blood:
8	chr15:78422464..78425441-chr3:23985742..23987944,2	MCF-7	breast:
9	chr15:78422015..78425228-chr15:78439030..78443289,7	K562	blood:

Variant related genes	Relation type
CIB2	TF binding region
ENSG00000174738	Chromatin interaction
ENSG00000260988	Chromatin interaction
ENSG00000166411	Chromatin interaction
ENSG00000272418	Chromatin interaction
ENSG00000103740	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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	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	esv3352352	chr15:78422697-78424795	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78422200-78424800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:78422600-78424200	Active TSS	iPS-18 Cell Line	embryonic stem cell
3	chr15:78422800-78424400	Active TSS	H9 Cell Line	embryonic stem cell
4	chr15:78422800-78424400	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr15:78422800-78424800	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr15:78423000-78424200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr15:78423000-78424200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr15:78423000-78424200	Active TSS	Brain Cingulate Gyrus	brain
9	chr15:78423000-78424400	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr15:78423000-78424400	Active TSS	Colon Smooth Muscle	Colon
11	chr15:78423000-78424400	Active TSS	Fetal Stomach	stomach
12	chr15:78423000-78424600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr15:78423000-78424800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr15:78423000-78424800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr15:78423000-78425000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr15:78423200-78424200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
17	chr15:78423200-78424200	Active TSS	Brain Angular Gyrus	brain
18	chr15:78423200-78424200	Active TSS	Brain Anterior Caudate	brain
19	chr15:78423200-78424200	Active TSS	Duodenum Mucosa	Duodenum
20	chr15:78423200-78424200	Weak transcription	Fetal Brain Male	brain
21	chr15:78423200-78424200	Active TSS	Rectal Mucosa Donor 31	rectum
22	chr15:78423200-78424200	Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr15:78423200-78424200	Active TSS	HepG2	liver
24	chr15:78423200-78424200	Active TSS	K562	blood
25	chr15:78423200-78424400	Active TSS	Fetal Intestine Large	intestine
26	chr15:78423200-78424400	Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr15:78423200-78424600	Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr15:78423200-78424600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr15:78423200-78424600	Active TSS	Right Ventricle	heart
30	chr15:78423200-78424800	Active TSS	Thymus	Thymus
31	chr15:78423400-78424200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr15:78423400-78424200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
33	chr15:78423400-78424200	Active TSS	Aorta	Aorta
34	chr15:78423400-78424200	Active TSS	Brain Germinal Matrix	brain
35	chr15:78423400-78424200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr15:78423400-78424200	Active TSS	Fetal Brain Female	brain
37	chr15:78423400-78424200	Active TSS	Fetal Muscle Leg	muscle
38	chr15:78423400-78424200	Active TSS	Pancreas	Pancrea
39	chr15:78423400-78424400	Active TSS	H1 Cell Line	embryonic stem cell
40	chr15:78423400-78424400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr15:78423400-78424400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr15:78423400-78424400	Active TSS	iPS-20b Cell Line	embryonic stem cell
43	chr15:78423400-78424400	Active TSS	Ovary	ovary
44	chr15:78423400-78424400	Active TSS	Small Intestine	intestine
45	chr15:78423400-78424400	Active TSS	A549	lung
46	chr15:78423400-78424600	Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr15:78423400-78424600	Active TSS	Fetal Intestine Small	intestine
48	chr15:78423400-78424600	Active TSS	Left Ventricle	heart
49	chr15:78423400-78424600	Active TSS	Psoas Muscle	Psoas
50	chr15:78423400-78424600	Active TSS	Right Atrium	heart

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