Variant report

Variant	rs558558473
Chromosome Location	chr15:83877071-83877072
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:219)
CpG islands
(count:61)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:219 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:83875386-83877206	HUVEC	blood vessel:	n/a	n/a
2	CTCF	chr15:83877022-83877183	K562	blood:	n/a	n/a
3	POLR2A	chr15:83875712-83877097	GM19099	blood:	n/a	n/a
4	CTCF	chr15:83876966-83877196	GM19238	blood:	n/a	n/a
5	CTCF	chr15:83876988-83877196	GM13977	blood:	n/a	n/a
6	HDAC2	chr15:83876859-83877093	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr15:83877020-83877170	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr15:83876999-83877163	SK-N-SH_RA	brain:	n/a	n/a
9	POLR2A	chr15:83875235-83877412	H1-neurons	neurons:	n/a	n/a
10	POLR2A	chr15:83876431-83877255	HUVEC	blood vessel:	n/a	n/a
11	CTCF	chr15:83877040-83877190	GM12865	blood:	n/a	n/a
12	CTCF	chr15:83877064-83877130	Pancreas_OC	pancreas:	n/a	n/a
13	ELF1	chr15:83876735-83877313	GM12878	blood:	n/a	chr15:83877012-83877025
14	MAZ	chr15:83875472-83877300	K562	blood:	n/a	chr15:83876332-83876342
15	CTCF	chr15:83877000-83877150	GM12874	blood:	n/a	n/a
16	MAX	chr15:83876394-83877094	SK-N-SH	brain:	n/a	n/a
17	YY1	chr15:83876637-83877126	A549	lung:	n/a	n/a
18	POLR2A	chr15:83874823-83877194	GM12878	blood:	n/a	n/a
19	CTCF	chr15:83876960-83877110	AG09309	skin:	n/a	n/a
20	POLR2A	chr15:83875557-83877075	Gliobla	brain:	n/a	n/a
21	YY1	chr15:83876850-83877207	GM12878	blood:	n/a	n/a
22	CTCF	chr15:83877025-83877197	GM10266	blood:	n/a	n/a
23	CTCF	chr15:83877040-83877190	SK-N-SH_RA	brain:	n/a	n/a
24	RAD21	chr15:83876807-83877284	SK-N-SH_RA	brain:	n/a	n/a
25	TAF7	chr15:83876625-83877119	H1-hESC	embryonic stem cell:	n/a	n/a
26	ZNF143	chr15:83876945-83877193	H1-hESC	embryonic stem cell:	n/a	n/a
27	ATF2	chr15:83876967-83877320	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr15:83876980-83877130	GM06990	blood:	n/a	n/a
29	CTCF	chr15:83877040-83877190	GM12871	blood:	n/a	n/a
30	JUND	chr15:83876722-83877266	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr15:83877000-83877150	HBMEC	blood vessel:	n/a	n/a
32	POLR2A	chr15:83875557-83877090	K562	blood:	n/a	n/a
33	CTCF	chr15:83877060-83877210	BE2_C	brain:	n/a	n/a
34	CTCF	chr15:83876940-83877090	GM12870	blood:	n/a	n/a
35	CTCF	chr15:83876995-83877205	A549	lung:	n/a	n/a
36	RAD21	chr15:83876891-83877270	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chr15:83877054-83877167	GM10248	blood:	n/a	n/a
38	CTCF	chr15:83877000-83877150	BJ	skin:	n/a	n/a
39	CTCF	chr15:83877000-83877150	HCPEpiC	choroid plexus:	n/a	n/a
40	CTCF	chr15:83877040-83877190	HUVEC	blood vessel:	n/a	n/a
41	CTCF	chr15:83877000-83877150	GM12866	blood:	n/a	n/a
42	CTCF	chr15:83877020-83877170	GM12870	blood:	n/a	n/a
43	CTCF	chr15:83877013-83877178	MCF-7	breast:	n/a	n/a
44	MAX	chr15:83875358-83877237	Hela-S3	cervix:	n/a	chr15:83876332-83876342
45	ZBTB7A	chr15:83876583-83877206	K562	blood:	n/a	n/a
46	CTCF	chr15:83876984-83877196	NHEK	skin:	n/a	n/a
47	CTCF	chr15:83877040-83877190	GM06990	blood:	n/a	n/a
48	CTCF	chr15:83877000-83877150	AG04449	skin:	n/a	n/a
49	POLR2A	chr15:83875448-83877282	IMR90	lung:	n/a	n/a
50	SIN3A	chr15:83875316-83877363	H1-hESC	embryonic stem cell:	n/a	chr15:83875668-83875679

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:83877070-83877120	RPTEC	kidney:	n/a
2	chr15:83877070-83877120	Caco-2	colon:	n/a
3	chr15:83877070-83877120	CMK	blood:	n/a
4	chr15:83877070-83877120	GM06990	blood:	n/a
5	chr15:83877070-83877120	AoSMC	blood vessel:	n/a
6	chr15:83877070-83877120	SAEC	small airway:	n/a
7	chr15:83877070-83877120	NT2-D1	testis:	n/a
8	chr15:83877070-83877120	HCT-116	colon:	n/a
9	chr15:83877070-83877120	U87	brain:	n/a
10	chr15:83877070-83877120	HCPEpiC	choroid plexus:	n/a
11	chr15:83877070-83877120	ECC-1	luminal epithelium:	n/a
12	chr15:83877070-83877120	BE2_C	brain:	n/a
13	chr15:83877070-83877120	SK-N-SH	brain:	n/a
14	chr15:83877070-83877120	AG04450	lung:	fetal
15	chr15:83877070-83877120	NB4	blood:	n/a
16	chr15:83877070-83877120	H1-hESC	embryonic stem cell:	embryo
17	chr15:83877070-83877120	IMR90	lung:	fetal
18	chr15:83877070-83877120	AG09319	gingival:	n/a
19	chr15:83877070-83877120	NHDF-neo	bronchial:	n/a
20	chr15:83877070-83877120	AG09309	skin:	n/a
21	chr15:83877070-83877120	HL-60	blood:	n/a
22	chr15:83877070-83877120	HCM	heart:	n/a
23	chr15:83877070-83877120	K562	blood:	n/a
24	chr15:83877070-83877120	HNPCEpiC	eye:	n/a
25	chr15:83877070-83877120	PANC-1	pancreas:	n/a
26	chr15:83877070-83877120	AG04449	skin:	fetal
27	chr15:83877070-83877120	MCF10A-Er-Src	breast:	n/a
28	chr15:83877070-83877120	PFSK-1	brain:	n/a
29	chr15:83877070-83877120	HRCEpiC	kidney:	n/a
30	chr15:83877070-83877120	HUVEC	blood vessel:	n/a
31	chr15:83877070-83877120	SKMC	muscle:	n/a
32	chr15:83877070-83877120	Jurkat	blood:	n/a
33	chr15:83877070-83877120	HEK293	kidney:	embryo
34	chr15:83877070-83877120	MCF-7	breast:	n/a
35	chr15:83877070-83877120	GM12891	blood:	n/a
36	chr15:83877070-83877120	ovcar-3	ovarian:	n/a
37	chr15:83877070-83877120	HMEC	breast:	n/a
38	chr15:83877070-83877120	LNCaP	prostate:	n/a
39	chr15:83877070-83877120	HRE	kidney:	n/a
40	chr15:83877070-83877120	HRPEpiC	eye:	n/a
41	chr15:83877070-83877120	Hela-S3	cervix:	n/a
42	chr15:83877070-83877120	SK-N-MC	brain:	n/a
43	chr15:83877070-83877120	BJ	skin:	n/a
44	chr15:83877070-83877120	GM19239	blood:	n/a
45	chr15:83877070-83877120	ProgFib	skin:	n/a
46	chr15:83877070-83877120	SK-N-SH_RA	brain:	n/a
47	chr15:83877070-83877120	NH-A	brain:	n/a
48	chr15:83877070-83877120	GM12878	blood:	n/a
49	chr15:83877070-83877120	HEEpiC	esophagus:	n/a
50	chr15:83877070-83877120	HepG2	liver:	n/a

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:83680783..83683197-chr15:83876059..83879037,3	K562	blood:
2	chr15:83834964..83840588-chr15:83874121..83878306,6	MCF-7	breast:
3	chr15:83733142..83737236-chr15:83872525..83879828,15	MCF-7	breast:
4	chr15:83678154..83684518-chr15:83871554..83879371,12	MCF-7	breast:
5	chr15:83847714..83850048-chr15:83876536..83879465,3	MCF-7	breast:
6	chr15:83652926..83655970-chr15:83874776..83878125,3	MCF-7	breast:
7	chr15:83825858..83828355-chr15:83876251..83878131,2	MCF-7	breast:
8	chr15:83678260..83683197-chr15:83874959..83878158,5	K562	blood:
9	chr15:83734393..83737227-chr15:83876568..83879136,2	K562	blood:
10	chr15:83706535..83711494-chr15:83875161..83878411,4	MCF-7	breast:
11	chr15:83876782..83879071-chr15:84050776..84053282,2	MCF-7	breast:
12	chr15:83733297..83738085-chr15:83874642..83880991,12	MCF-7	breast:
13	chr15:83876872..83879211-chr15:83879767..83882813,3	K562	blood:
14	chr15:83875339..83878212-chr17:65989153..65990840,2	MCF-7	breast:
15	chr15:83795078..83799216-chr15:83876236..83878812,3	MCF-7	breast:
16	chr15:83678614..83685168-chr15:83874398..83879059,12	MCF-7	breast:
17	chr15:83476923..83480237-chr15:83875108..83878990,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000166503	TF binding region
ENSG00000166503	CpG island
ENSG00000103942	Chromatin interaction
ENSG00000169612	Chromatin interaction
ENSG00000136404	Chromatin interaction
ENSG00000156232	Chromatin interaction
ENSG00000186665	Chromatin interaction
ENSG00000263643	Chromatin interaction
ENSG00000064726	Chromatin interaction
ENSG00000166503	Chromatin interaction
ENSG00000169609	Chromatin interaction
ENSG00000260608	Chromatin interaction
ENSG00000249214	Chromatin interaction
ENSG00000259986	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534418	chr15:83770116-83960718	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv3357133	chr15:83874773-83877521	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	esv3373243	chr15:83875373-83878121	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	esv3360287	chr15:83875498-83877971	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83872000-83877200	Active TSS	GM12878-XiMat	blood
2	chr15:83873400-83877600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr15:83874000-83877200	Active TSS	H1 Cell Line	embryonic stem cell
4	chr15:83874000-83877400	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr15:83874200-83877200	Active TSS	Aorta	Aorta
6	chr15:83874200-83877400	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr15:83874400-83877600	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr15:83874600-83877200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr15:83874600-83877400	Active TSS	H9 Cell Line	embryonic stem cell
10	chr15:83874600-83877400	Active TSS	Brain Anterior Caudate	brain
11	chr15:83874600-83877600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr15:83874600-83877800	Active TSS	Fetal Brain Female	brain
13	chr15:83874800-83877200	Active TSS	Ovary	ovary
14	chr15:83874800-83877400	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr15:83874800-83877400	Active TSS	Brain Angular Gyrus	brain
16	chr15:83874800-83877400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr15:83874800-83877400	Active TSS	NH-A	brain
18	chr15:83874800-83877600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr15:83874800-83877800	Bivalent/Poised TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr15:83875000-83877200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
21	chr15:83875000-83877200	Active TSS	A549	lung
22	chr15:83875000-83877200	Active TSS	NHDF-Ad	bronchial
23	chr15:83875000-83877400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr15:83875000-83877400	Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr15:83875000-83877400	Active TSS	HUES64 Cell Line	embryonic stem cell
26	chr15:83875000-83877400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr15:83875000-83877400	Active TSS	Fetal Kidney	kidney
28	chr15:83875000-83877400	Active TSS	Fetal Muscle Trunk	muscle
29	chr15:83875000-83877600	Active TSS	Rectal Mucosa Donor 31	rectum
30	chr15:83875200-83877200	Active TSS	iPS-18 Cell Line	embryonic stem cell
31	chr15:83875200-83877200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr15:83875200-83877400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr15:83875200-83877400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr15:83875200-83877400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr15:83875200-83877400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr15:83875200-83877400	Active TSS	Left Ventricle	heart
37	chr15:83875200-83877400	Active TSS	HSMM	muscle
38	chr15:83875400-83877200	Active TSS	iPS-15b Cell Line	embryonic stem cell
39	chr15:83875400-83877200	Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr15:83875400-83877200	Active TSS	Cortex derived primary cultured neurospheres	brain
41	chr15:83875400-83877200	Active TSS	Brain Hippocampus Middle	brain
42	chr15:83875400-83877200	Active TSS	Colon Smooth Muscle	Colon
43	chr15:83875400-83877200	Active TSS	Esophagus	oesophagus
44	chr15:83875400-83877200	Active TSS	Rectal Smooth Muscle	rectum
45	chr15:83875400-83877200	Active TSS	Hela-S3	cervix
46	chr15:83875400-83877200	Active TSS	NHLF	lung
47	chr15:83875400-83877400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr15:83875400-83877400	Active TSS	Brain Substantia Nigra	brain
49	chr15:83875400-83877400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
50	chr15:83875400-83877400	Active TSS	Pancreatic Islets	Pancreatic Islet

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