Variant report

Variant	rs184406339
Chromosome Location	chr15:83477889-83477890
allele	C/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	KAP1	chr15:83477258-83478633	HEK293	kidney:	n/a	n/a
2	SRF	chr15:83477312-83477934	MCF-7	breast:	n/a	n/a
3	RFX5	chr15:83477087-83479037	SK-N-SH	brain:	n/a	chr15:83478322-83478331
4	SMC3	chr15:83477755-83478357	HepG2	liver:	n/a	n/a
5	MYBL2	chr15:83477830-83478669	HepG2	liver:	n/a	n/a
6	SIN3AK20	chr15:83477713-83478802	MCF-7	breast:	n/a	n/a
7	RELA	chr15:83477637-83478640	GM19099	blood:	n/a	n/a
8	POLR2A	chr15:83477789-83479413	GM18951	blood:	n/a	n/a
9	RCOR1	chr15:83477120-83479262	K562	blood:	n/a	n/a
10	NR2F2	chr15:83477886-83478625	K562	blood:	n/a	n/a
11	SP1	chr15:83477856-83478656	HCT-116	colon:	n/a	chr15:83478320-83478341 chr15:83478233-83478254
12	BHLHE40	chr15:83477856-83479095	GM12878	blood:	n/a	n/a
13	POLR2A	chr15:83477429-83479340	GM15510	blood:	n/a	n/a
14	HCFC1	chr15:83477536-83480275	Hela-S3	cervix:	n/a	n/a
15	MAFK	chr15:83477833-83478138	HepG2	liver:	n/a	n/a
16	KAP1	chr15:83477330-83478610	U2OS	brain:	n/a	n/a
17	NFYB	chr15:83477803-83478710	GM12878	blood:	n/a	chr15:83478319-83478334 chr15:83478319-83478332 chr15:83478319-83478333 chr15:83478319-83478334 chr15:83478321-83478331 chr15:83478242-83478257 chr15:83478241-83478255
18	POLR2A	chr15:83477567-83478690	HEK293	kidney:	n/a	n/a
19	POLR2A	chr15:83477132-83479406	GM12892	blood:	n/a	n/a
20	MAFK	chr15:83477816-83478596	K562	blood:	n/a	n/a
21	SP1	chr15:83477819-83478601	HCT-116	colon:	n/a	chr15:83478320-83478341 chr15:83478233-83478254
22	GTF2F1	chr15:83477671-83478577	Hela-S3	cervix:	n/a	n/a
23	MXI1	chr15:83477588-83480089	SK-N-SH	brain:	n/a	n/a
24	RCOR1	chr15:83477363-83479994	IMR90	lung:	n/a	n/a
25	POLR2A	chr15:83477438-83479464	Raji	blood:	n/a	n/a
26	TBL1XR1	chr15:83477852-83478702	K562	blood:	n/a	n/a
27	POLR2A	chr15:83477871-83478795	PANC-1	pancreas:	n/a	n/a
28	SP1	chr15:83477783-83478803	A549	lung:	n/a	chr15:83478320-83478341 chr15:83478233-83478254
29	SIN3AK20	chr15:83477125-83479915	MCF-7	breast:	n/a	n/a
30	POLR2A	chr15:83477848-83479930	GM12892	blood:	n/a	n/a
31	SRF	chr15:83477420-83478004	MCF-7	breast:	n/a	n/a
32	POLR2A	chr15:83477663-83479179	MCF10A-Er-Src	breast:	n/a	n/a
33	SIN3AK20	chr15:83477869-83479355	PANC-1	pancreas:	n/a	n/a
34	POLR2A	chr15:83477855-83479374	PFSK-1	brain:	n/a	n/a
35	NFYA	chr15:83477809-83478549	K562	blood:	n/a	chr15:83478319-83478334 chr15:83478319-83478332 chr15:83478319-83478333 chr15:83478319-83478334 chr15:83478321-83478331 chr15:83478236-83478254 chr15:83478241-83478255
36	JUND	chr15:83477384-83479128	K562	blood:	n/a	chr15:83478323-83478332
37	MXI1	chr15:83477722-83480347	IMR90	lung:	n/a	n/a
38	POLR2A	chr15:83477880-83478675	GM12891	blood:	n/a	n/a
39	MAZ	chr15:83477476-83479604	IMR90	lung:	n/a	n/a
40	EGR1	chr15:83477671-83477988	K562	blood:	n/a	n/a
41	NFYB	chr15:83477805-83478700	K562	blood:	n/a	chr15:83478319-83478334 chr15:83478319-83478332 chr15:83478319-83478333 chr15:83478319-83478334 chr15:83478321-83478331 chr15:83478242-83478257 chr15:83478241-83478255
42	SP1	chr15:83477853-83478712	A549	lung:	n/a	chr15:83478320-83478341 chr15:83478233-83478254
43	STAT3	chr15:83477804-83478374	MCF10A-Er-Src	breast:	n/a	n/a
44	POLR2A	chr15:83477137-83480078	GM18505	blood:	n/a	n/a
45	NFYB	chr15:83477750-83478556	Hela-S3	cervix:	n/a	chr15:83478319-83478334 chr15:83478319-83478332 chr15:83478319-83478333 chr15:83478319-83478334 chr15:83478321-83478331 chr15:83478242-83478257 chr15:83478241-83478255
46	MAX	chr15:83477809-83479730	A549	lung:	n/a	n/a
47	NFYA	chr15:83477373-83478659	Hela-S3	cervix:	n/a	chr15:83478319-83478334 chr15:83478319-83478332 chr15:83478319-83478333 chr15:83478319-83478334 chr15:83478321-83478331 chr15:83478236-83478254 chr15:83478241-83478255
48	CEBPB	chr15:83477853-83478531	A549	lung:	n/a	chr15:83478322-83478330
49	EGR1	chr15:83477750-83478018	K562	blood:	n/a	n/a
50	POLR2A	chr15:83477718-83479478	GM18526	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:83477872-83477922	BE2_C	brain:	n/a
2	chr15:83477872-83477922	HCM	heart:	n/a
3	chr15:83477872-83477922	HRE	kidney:	n/a
4	chr15:83477872-83477922	ECC-1	luminal epithelium:	n/a
5	chr15:83477872-83477922	HAEpiC	amniotic membrane:	n/a
6	chr15:83477872-83477922	GM06990	blood:	n/a
7	chr15:83477872-83477922	GM12892	blood:	n/a
8	chr15:83477872-83477922	HCT-116	colon:	n/a
9	chr15:83477872-83477922	HRPEpiC	eye:	n/a
10	chr15:83477872-83477922	RPTEC	kidney:	n/a
11	chr15:83477872-83477922	HCPEpiC	choroid plexus:	n/a
12	chr15:83477872-83477922	AG04449	skin:	fetal
13	chr15:83477872-83477922	A549	lung:	n/a
14	chr15:83477872-83477922	ProgFib	skin:	n/a
15	chr15:83477872-83477922	Caco-2	colon:	n/a
16	chr15:83477872-83477922	HCF	heart:	n/a
17	chr15:83477872-83477922	PrEC	prostate:	n/a
18	chr15:83477872-83477922	LNCaP	prostate:	n/a
19	chr15:83477872-83477922	HIPEpiC	eye:	n/a
20	chr15:83477872-83477922	HMEC	breast:	n/a
21	chr15:83477872-83477922	T-47D	breast:	n/a
22	chr15:83477872-83477922	GM12878	blood:	n/a
23	chr15:83477872-83477922	ovcar-3	ovarian:	n/a
24	chr15:83477872-83477922	AG10803	skin:	n/a
25	chr15:83477872-83477922	SAEC	small airway:	n/a
26	chr15:83477872-83477922	GM12891	blood:	n/a
27	chr15:83477872-83477922	AG09319	gingival:	n/a
28	chr15:83477872-83477922	SK-N-SH_RA	brain:	n/a
29	chr15:83477872-83477922	PFSK-1	brain:	n/a
30	chr15:83477872-83477922	NHDF-neo	bronchial:	n/a
31	chr15:83477872-83477922	IMR90	lung:	fetal
32	chr15:83477872-83477922	HRCEpiC	kidney:	n/a
33	chr15:83477872-83477922	AG09309	skin:	n/a
34	chr15:83477872-83477922	SK-N-MC	brain:	n/a
35	chr15:83477872-83477922	GM19239	blood:	n/a
36	chr15:83477872-83477922	BJ	skin:	n/a
37	chr15:83477872-83477922	AG04450	lung:	fetal
38	chr15:83477872-83477922	HPAEpiC	pulmonary alveolar:	n/a
39	chr15:83477872-83477922	NT2-D1	testis:	n/a
40	chr15:83477872-83477922	K562	blood:	n/a
41	chr15:83477872-83477922	AoSMC	blood vessel:	n/a
42	chr15:83477872-83477922	CMK	blood:	n/a
43	chr15:83477872-83477922	Jurkat	blood:	n/a
44	chr15:83477872-83477922	HEK293	kidney:	embryo
45	chr15:83477872-83477922	Hepatocyte	liver:	n/a
46	chr15:83477872-83477922	HEEpiC	esophagus:	n/a
47	chr15:83477872-83477922	SK-N-SH	brain:	n/a
48	chr15:83477872-83477922	SKMC	muscle:	n/a
49	chr15:83477872-83477922	HepG2	liver:	n/a
50	chr15:83477872-83477922	U87	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:83423255..83426158-chr15:83477607..83479598,3	MCF-7	breast:
2	chr15:83475882..83480852-chr15:83678880..83683242,6	MCF-7	breast:
3	chr15:83477828..83481866-chr15:83483118..83489176,7	K562	blood:
4	chr15:83313427..83317808-chr15:83477553..83483000,6	K562	blood:
5	chr15:83407361..83409606-chr15:83477408..83479472,2	MCF-7	breast:
6	chr15:83417500..83421911-chr15:83474614..83480217,8	MCF-7	breast:
7	chr15:83476033..83478214-chr15:83679893..83681510,2	K562	blood:
8	chr15:83417832..83422548-chr15:83476028..83480956,9	K562	blood:
9	chr15:83477527..83479377-chr15:83517237..83519936,2	K562	blood:
10	chr15:83476923..83480237-chr15:83875108..83878990,4	MCF-7	breast:
11	chr15:83477632..83480172-chr15:83484528..83487051,2	MCF-7	breast:
12	chr15:83477529..83479377-chr15:83517237..83520056,3	K562	blood:
13	chr15:83477554..83479674-chr15:83486165..83489315,3	MCF-7	breast:
14	chr15:83417361..83424147-chr15:83476165..83481050,26	MCF-7	breast:
15	chr15:83348193..83350766-chr15:83477443..83480779,4	MCF-7	breast:
16	chr15:83417749..83420684-chr15:83476028..83479878,6	K562	blood:

Variant related genes	Relation type
WHAMM	TF binding region
FSD2	TF binding region
FSD2	CpG island
WHAMM	CpG island
ENSG00000259315	Chromatin interaction
ENSG00000103723	Chromatin interaction
ENSG00000103942	Chromatin interaction
ENSG00000169609	Chromatin interaction
ENSG00000156232	Chromatin interaction
ENSG00000260608	Chromatin interaction
ENSG00000259462	Chromatin interaction
ENSG00000252690	Chromatin interaction
ENSG00000166503	Chromatin interaction
ENSG00000214575	Chromatin interaction
ENSG00000250988	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	nsv469557	chr15:83417763-83560629	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv482340	chr15:83417763-83560629	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv471687	chr15:83417764-83560629	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
4	esv3371602	chr15:83476798-83481096	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83471200-83478200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr15:83472400-83478200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr15:83475000-83478400	Weak transcription	Left Ventricle	heart
4	chr15:83475600-83478000	Enhancers	Fetal Muscle Leg	muscle
5	chr15:83477000-83478000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
6	chr15:83477200-83478000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr15:83477200-83478000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
8	chr15:83477200-83478200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
9	chr15:83477400-83478000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr15:83477400-83478000	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr15:83477400-83478000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr15:83477400-83478000	Enhancers	Primary hematopoietic stem cells	blood
13	chr15:83477400-83478000	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr15:83477400-83478000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr15:83477400-83478000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr15:83477400-83478000	Enhancers	Fetal Intestine Small	intestine
17	chr15:83477400-83478000	Enhancers	Fetal Muscle Trunk	muscle
18	chr15:83477400-83478000	Enhancers	Lung	lung
19	chr15:83477400-83478000	Enhancers	Pancreas	Pancrea
20	chr15:83477400-83478000	Enhancers	Thymus	Thymus
21	chr15:83477400-83478000	Enhancers	HMEC	breast
22	chr15:83477400-83478000	Enhancers	HSMM	muscle
23	chr15:83477400-83478200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr15:83477400-83478200	Flanking Active TSS	Duodenum Mucosa	Duodenum
25	chr15:83477400-83478200	Flanking Active TSS	Fetal Heart	heart
26	chr15:83477400-83478200	Flanking Active TSS	Dnd41	blood
27	chr15:83477400-83478200	Flanking Active TSS	GM12878-XiMat	blood
28	chr15:83477400-83478200	Flanking Active TSS	Hela-S3	cervix
29	chr15:83477400-83478200	Flanking Active TSS	K562	blood
30	chr15:83477400-83480400	Active TSS	Colonic Mucosa	Colon
31	chr15:83477400-83480400	Active TSS	Stomach Mucosa	stomach
32	chr15:83477400-83481000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr15:83477600-83478000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr15:83477600-83478000	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr15:83477600-83478000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr15:83477600-83478000	Enhancers	Fetal Lung	lung
37	chr15:83477600-83478000	Enhancers	Fetal Stomach	stomach
38	chr15:83477600-83478200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
39	chr15:83477600-83478200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr15:83477600-83478200	Enhancers	Spleen	Spleen
41	chr15:83477600-83478200	Flanking Active TSS	A549	lung
42	chr15:83477600-83479600	Active TSS	Brain Anterior Caudate	brain
43	chr15:83477600-83480200	Active TSS	Brain Inferior Temporal Lobe	brain
44	chr15:83477600-83480400	Active TSS	Psoas Muscle	Psoas
45	chr15:83477600-83480800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr15:83477800-83478000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr15:83477800-83478000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr15:83477800-83478000	Enhancers	Primary T cells from cord blood	blood
49	chr15:83477800-83478000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr15:83477800-83478000	Flanking Active TSS	Brain Hippocampus Middle	brain

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