Variant report

Variant	rs142052279
Chromosome Location	chr15:83479730-83479731
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	POU2F2	chr15:83478877-83480275	GM12878	blood:	n/a	n/a
2	MTA3	chr15:83479122-83480316	GM12878	blood:	n/a	n/a
3	CHD1	chr15:83478017-83480145	GM12878	blood:	n/a	n/a
4	BHLHE40	chr15:83479558-83480312	GM12878	blood:	n/a	n/a
5	PAX5	chr15:83479026-83480351	GM12878	blood:	n/a	chr15:83480341-83480351
6	SPI1	chr15:83479497-83480119	HL-60	blood:	n/a	chr15:83479849-83479862 chr15:83479513-83479520 chr15:83479851-83479860 chr15:83479848-83479861
7	POLR2A	chr15:83479242-83480206	GM12891	blood:	n/a	n/a
8	NFIC	chr15:83479199-83480407	GM12878	blood:	n/a	n/a
9	BCL11A	chr15:83479278-83480283	GM12878	blood:	n/a	n/a
10	MXI1	chr15:83479008-83479888	Hela-S3	cervix:	n/a	n/a
11	RCOR1	chr15:83479714-83479890	K562	blood:	n/a	n/a
12	FOXA2	chr15:83479559-83479818	HepG2	liver:	n/a	n/a
13	ATF2	chr15:83479287-83480364	GM12878	blood:	n/a	n/a
14	RCOR1	chr15:83479580-83480222	GM12878	blood:	n/a	n/a
15	STAT3	chr15:83479555-83480226	GM12878	blood:	n/a	n/a
16	CHD2	chr15:83478006-83480145	GM12878	blood:	n/a	n/a
17	IRF4	chr15:83479208-83479810	GM12878	blood:	n/a	n/a
18	POLR2A	chr15:83477963-83479741	GM19099	blood:	n/a	n/a
19	SPI1	chr15:83479643-83480242	GM12891	blood:	n/a	chr15:83479849-83479862 chr15:83479851-83479860 chr15:83479848-83479861
20	BCLAF1	chr15:83479251-83480322	GM12878	blood:	n/a	n/a
21	EP300	chr15:83479550-83480255	GM12878	blood:	n/a	chr15:83479850-83479864
22	SPI1	chr15:83479708-83480150	K562	blood:	n/a	chr15:83479849-83479862 chr15:83479851-83479860 chr15:83479848-83479861
23	TBP	chr15:83479367-83480267	GM12878	blood:	n/a	chr15:83479920-83479931
24	CEBPB	chr15:83479189-83480121	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr15:83478091-83480332	GM12878	blood:	n/a	n/a
26	HCFC1	chr15:83477536-83480275	Hela-S3	cervix:	n/a	n/a
27	UBTF	chr15:83478120-83479904	K562	blood:	n/a	n/a
28	MAFK	chr15:83479603-83479799	K562	blood:	n/a	n/a
29	MAFK	chr15:83479260-83480066	IMR90	lung:	n/a	n/a
30	MTA3	chr15:83479426-83480312	GM12878	blood:	n/a	n/a
31	IKZF1	chr15:83479353-83480172	GM12878	blood:	n/a	n/a
32	POLR2A	chr15:83477951-83480455	GM12878	blood:	n/a	n/a
33	ATF2	chr15:83479355-83480327	GM12878	blood:	n/a	n/a
34	FOXM1	chr15:83479236-83480357	GM12878	blood:	n/a	n/a
35	MXI1	chr15:83477588-83480089	SK-N-SH	brain:	n/a	n/a
36	BCLAF1	chr15:83479577-83480105	GM12878	blood:	n/a	n/a
37	RCOR1	chr15:83477363-83479994	IMR90	lung:	n/a	n/a
38	SP1	chr15:83479620-83480317	GM12878	blood:	n/a	chr15:83479700-83479709 chr15:83479756-83479766
39	SPI1	chr15:83479624-83480254	GM12878	blood:	n/a	chr15:83479849-83479862 chr15:83479851-83479860 chr15:83479848-83479861
40	STAT3	chr15:83479494-83480019	MCF10A-Er-Src	breast:	n/a	n/a
41	EBF1	chr15:83479472-83480314	GM12878	blood:	n/a	n/a
42	SIN3AK20	chr15:83477125-83479915	MCF-7	breast:	n/a	n/a
43	CUX1	chr15:83479479-83480335	GM12878	blood:	n/a	n/a
44	MEF2C	chr15:83479440-83480264	GM12878	blood:	n/a	chr15:83479542-83479563
45	POLR2A	chr15:83477959-83479773	Hela-S3	cervix:	n/a	n/a
46	ZNF384	chr15:83479719-83480337	GM12878	blood:	n/a	n/a
47	POLR2A	chr15:83477848-83479930	GM12892	blood:	n/a	n/a
48	FOXM1	chr15:83479507-83480208	GM12878	blood:	n/a	n/a
49	POLR2A	chr15:83478211-83480131	GM12878	blood:	n/a	n/a
50	BCL11A	chr15:83479559-83480160	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:83478234..83479933-chr15:83485060..83487669,2	K562	blood:
2	chr15:83478686..83480372-chr15:83679248..83681221,2	MCF-7	breast:
3	chr15:83478452..83480034-chr15:83499455..83501748,2	MCF-7	breast:
4	chr15:83346623..83348757-chr15:83479507..83481301,2	K562	blood:
5	chr15:83475882..83480852-chr15:83678880..83683242,6	MCF-7	breast:
6	chr15:83376836..83378789-chr15:83478421..83480593,2	MCF-7	breast:
7	chr15:83477828..83481866-chr15:83483118..83489176,7	K562	blood:
8	chr15:83347885..83349520-chr15:83478710..83480628,2	MCF-7	breast:
9	chr15:83313427..83317808-chr15:83477553..83483000,6	K562	blood:
10	chr15:83478211..83480402-chr15:83735487..83737469,2	MCF-7	breast:
11	chr15:83417500..83421911-chr15:83474614..83480217,8	MCF-7	breast:
12	chr15:83478559..83480416-chr15:83489248..83490840,2	MCF-7	breast:
13	chr15:83417832..83422548-chr15:83476028..83480956,9	K562	blood:
14	chr15:83479049..83481749-chr15:83503841..83505564,2	K562	blood:
15	chr15:83333197..83334998-chr15:83479229..83480988,2	MCF-7	breast:
16	chr15:83476923..83480237-chr15:83875108..83878990,4	MCF-7	breast:
17	chr15:83477632..83480172-chr15:83484528..83487051,2	MCF-7	breast:
18	chr15:83417361..83424147-chr15:83476165..83481050,26	MCF-7	breast:
19	chr15:83348193..83350766-chr15:83477443..83480779,4	MCF-7	breast:
20	chr15:83417749..83420684-chr15:83476028..83479878,6	K562	blood:

Variant related genes	Relation type
FSD2	TF binding region
ENSG00000259462	Chromatin interaction
ENSG00000214575	Chromatin interaction
ENSG00000252690	Chromatin interaction
ENSG00000169609	Chromatin interaction
ENSG00000156232	Chromatin interaction
ENSG00000166503	Chromatin interaction
ENSG00000064726	Chromatin interaction
ENSG00000250988	Chromatin interaction
ENSG00000103723	Chromatin interaction
ENSG00000260608	Chromatin interaction
ENSG00000263643	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 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
5	esv3334500	chr15:83478048-83480146	Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
6	nsv977747	chr15:83479370-83496161	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
7	nsv9288	chr15:83479484-83496828	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	12 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	chr15:83477400-83480400	Active TSS	Colonic Mucosa	Colon
2	chr15:83477400-83480400	Active TSS	Stomach Mucosa	stomach
3	chr15:83477400-83481000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr15:83477600-83480200	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr15:83477600-83480400	Active TSS	Psoas Muscle	Psoas
6	chr15:83477600-83480800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr15:83477800-83479800	Active TSS	Fetal Brain Male	brain
8	chr15:83477800-83480000	Active TSS	H9 Cell Line	embryonic stem cell
9	chr15:83477800-83480000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr15:83477800-83480200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr15:83477800-83480400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr15:83477800-83480400	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr15:83477800-83481000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr15:83478000-83479800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr15:83478000-83479800	Active TSS	Brain Hippocampus Middle	brain
16	chr15:83478000-83479800	Active TSS	Small Intestine	intestine
17	chr15:83478000-83480200	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr15:83478000-83480200	Active TSS	Fetal Muscle Trunk	muscle
19	chr15:83478000-83480200	Active TSS	Placenta	Placenta
20	chr15:83478000-83480400	Active TSS	Aorta	Aorta
21	chr15:83478000-83480400	Active TSS	Fetal Intestine Small	intestine
22	chr15:83478000-83480400	Active TSS	Fetal Kidney	kidney
23	chr15:83478000-83480400	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr15:83478000-83480400	Active TSS	Ovary	ovary
25	chr15:83478000-83480400	Active TSS	Right Ventricle	heart
26	chr15:83478000-83480400	Active TSS	Stomach Smooth Muscle	stomach
27	chr15:83478000-83480600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr15:83478000-83480800	Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr15:83478000-83480800	Active TSS	NH-A	brain
30	chr15:83478000-83481000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr15:83478000-83481400	Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr15:83478200-83479800	Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr15:83478200-83479800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr15:83478200-83479800	Active TSS	Cortex derived primary cultured neurospheres	brain
35	chr15:83478200-83479800	Active TSS	Colon Smooth Muscle	Colon
36	chr15:83478200-83479800	Active TSS	Fetal Muscle Leg	muscle
37	chr15:83478200-83479800	Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr15:83478200-83480000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
39	chr15:83478200-83480000	Active TSS	Brain Angular Gyrus	brain
40	chr15:83478200-83480000	Active TSS	Lung	lung
41	chr15:83478200-83480000	Active TSS	Pancreas	Pancrea
42	chr15:83478200-83480200	Active TSS	Primary B cells from peripheral blood	blood
43	chr15:83478200-83480200	Active TSS	Rectal Mucosa Donor 29	rectum
44	chr15:83478200-83480200	Active TSS	NHDF-Ad	bronchial
45	chr15:83478200-83480400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr15:83478200-83480400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr15:83478200-83480400	Active TSS	Primary T cells from cord blood	blood
48	chr15:83478200-83480400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr15:83478200-83480400	Active TSS	Primary T helper cells PMA-I stimulated	--
50	chr15:83478200-83480400	Active TSS	Primary T killer naive cells fromperipheralblood	blood

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