Variant report

Variant	rs4243073
Chromosome Location	chr15:78368266-78368267
allele	C/G
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	CTCF	chr15:78368200-78368350	HEEpiC	esophagus:	n/a	n/a
2	POLR2A	chr15:78368050-78368406	PFSK-1	brain:	n/a	n/a
3	CTCF	chr15:78368240-78368390	HCPEpiC	choroid plexus:	n/a	n/a
4	TBP	chr15:78368113-78368480	H1-hESC	embryonic stem cell:	n/a	n/a
5	ELF1	chr15:78368024-78368728	MCF-7	breast:	n/a	n/a
6	CTCF	chr15:78368180-78368330	HL-60	blood:	n/a	n/a
7	TAF1	chr15:78368058-78368568	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr15:78368134-78368325	MCF-7	breast:	n/a	n/a
9	SP1	chr15:78368092-78368655	H1-hESC	embryonic stem cell:	n/a	chr15:78368370-78368381
10	JUND	chr15:78368147-78368535	H1-hESC	embryonic stem cell:	n/a	chr15:78368158-78368168
11	MAFK	chr15:78367787-78368847	IMR90	lung:	n/a	chr15:78368155-78368171 chr15:78368160-78368169 chr15:78368153-78368173 chr15:78368156-78368170 chr15:78368158-78368174 chr15:78368158-78368173 chr15:78368157-78368167
12	MAFK	chr15:78367977-78368443	HepG2	liver:	n/a	chr15:78368155-78368171 chr15:78368160-78368169 chr15:78368153-78368173 chr15:78368156-78368170 chr15:78368158-78368174 chr15:78368158-78368173 chr15:78368157-78368167
13	TCF12	chr15:78368233-78368549	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr15:78368260-78368410	HMF	breast:	n/a	n/a
15	RFX5	chr15:78368033-78368311	Hela-S3	cervix:	n/a	n/a
16	FOS	chr15:78367808-78368295	MCF10A-Er-Src	breast:	n/a	chr15:78368158-78368168
17	HDAC2	chr15:78368149-78368618	MCF-7	breast:	n/a	n/a
18	JUND	chr15:78368167-78368506	H1-hESC	embryonic stem cell:	n/a	n/a
19	GATA3	chr15:78367685-78368615	SK-N-SH	brain:	n/a	n/a
20	CTCF	chr15:78368220-78368370	HPF	lung:	n/a	n/a
21	TAF1	chr15:78368176-78368423	H1-hESC	embryonic stem cell:	n/a	n/a
22	MAFK	chr15:78367958-78368429	K562	blood:	n/a	chr15:78368155-78368171 chr15:78368160-78368169 chr15:78368153-78368173 chr15:78368156-78368170 chr15:78368158-78368174 chr15:78368158-78368173 chr15:78368157-78368167
23	CTCF	chr15:78368140-78368290	AG04449	skin:	n/a	n/a
24	KAP1	chr15:78367970-78368740	U2OS	brain:	n/a	n/a
25	POLR2A	chr15:78368007-78368489	ProgFib	skin:	n/a	n/a
26	POLR2A	chr15:78367612-78368334	HUVEC	blood vessel:	n/a	n/a
27	RFX5	chr15:78368153-78368553	H1-hESC	embryonic stem cell:	n/a	n/a
28	TAF1	chr15:78368135-78368497	PFSK-1	brain:	n/a	n/a
29	POLR2A	chr15:78367708-78368505	SK-N-SH	brain:	n/a	n/a
30	MAFF	chr15:78367953-78368828	HepG2	liver:	n/a	chr15:78368157-78368175 chr15:78368156-78368170
31	SIN3AK20	chr15:78367801-78368805	MCF-7	breast:	n/a	n/a
32	RCOR1	chr15:78368266-78368455	HepG2	liver:	n/a	n/a
33	CTCF	chr15:78368240-78368390	HFF-Myc	foreskin:	n/a	n/a
34	SP1	chr15:78368064-78368678	H1-hESC	embryonic stem cell:	n/a	chr15:78368370-78368381
35	CREB1	chr15:78368023-78368299	A549	lung:	n/a	n/a
36	MAFK	chr15:78367737-78369024	GM12878	blood:	n/a	chr15:78368155-78368171 chr15:78368160-78368169 chr15:78368153-78368173 chr15:78368156-78368170 chr15:78368158-78368174 chr15:78368158-78368173 chr15:78368157-78368167
37	POLR2A	chr15:78367898-78368425	HUVEC	blood vessel:	n/a	n/a
38	TAF1	chr15:78368111-78368449	SK-N-SH	brain:	n/a	n/a
39	ELF1	chr15:78368215-78368489	HepG2	liver:	n/a	n/a
40	POLR2A	chr15:78368073-78368330	Gliobla	brain:	n/a	n/a
41	MAFK	chr15:78367876-78368450	HepG2	liver:	n/a	chr15:78368155-78368171 chr15:78368160-78368169 chr15:78368153-78368173 chr15:78368156-78368170 chr15:78368158-78368174 chr15:78368158-78368173 chr15:78368157-78368167
42	POLR2A	chr15:78368082-78368377	H1-hESC	embryonic stem cell:	n/a	n/a
43	BACH1	chr15:78367961-78368485	H1-hESC	embryonic stem cell:	n/a	n/a
44	RAD21	chr15:78368223-78368752	HepG2	liver:	n/a	n/a
45	SMC3	chr15:78368246-78368843	HepG2	liver:	n/a	n/a
46	POLR2A	chr15:78367712-78370170	IMR90	lung:	n/a	n/a
47	CTCF	chr15:78368160-78368310	NHDF-neo	bronchial:	n/a	n/a
48	KAP1	chr15:78367875-78368759	HEK293	kidney:	n/a	n/a
49	MAFK	chr15:78367910-78368423	H1-hESC	embryonic stem cell:	n/a	chr15:78368155-78368171 chr15:78368160-78368169 chr15:78368153-78368173 chr15:78368156-78368170 chr15:78368158-78368174 chr15:78368158-78368173 chr15:78368157-78368167
50	RAD21	chr15:78367832-78368794	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:78360126..78361739-chr15:78367541..78369302,2	K562	blood:
2	chr15:78367037..78369598-chr15:78400476..78402359,2	MCF-7	breast:
3	chr15:78357782..78360184-chr15:78367009..78369493,4	MCF-7	breast:
4	chr15:78362119..78363904-chr15:78366538..78368474,2	MCF-7	breast:
5	chr15:78365861..78368679-chr6:26247536..26249940,2	MCF-7	breast:
6	chr15:78303690..78306677-chr15:78365888..78368992,3	MCF-7	breast:
7	chr15:78362996..78365897-chr15:78366671..78369435,4	MCF-7	breast:

Variant related genes	Relation type
SH2D7	TF binding region
ENSG00000167202	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10851899	1.00[ASN][1000 genomes]
rs11072725	0.81[AFR][1000 genomes]
rs11633329	0.80[AFR][1000 genomes]
rs11633569	0.84[AFR][1000 genomes]
rs11636889	0.86[AFR][1000 genomes]
rs12898535	0.86[AFR][1000 genomes]
rs12915731	0.86[AFR][1000 genomes]
rs12915847	0.86[AFR][1000 genomes]
rs1348256	0.86[AFR][1000 genomes]
rs17477813	0.87[AFR][1000 genomes]
rs1837912	0.82[AFR][1000 genomes]
rs2015951	0.84[AFR][1000 genomes]
rs2044100	0.86[AFR][1000 genomes]
rs2867984	0.83[AFR][1000 genomes]
rs3972617	0.82[AFR][1000 genomes]
rs4886552	0.86[AFR][1000 genomes]
rs4886556	0.86[AFR][1000 genomes]
rs4886987	0.84[AFR][1000 genomes]
rs4886991	0.82[AFR][1000 genomes]
rs4886993	0.82[AFR][1000 genomes]
rs4886997	0.86[AFR][1000 genomes]
rs4886998	0.86[AFR][1000 genomes]
rs4887001	0.86[AFR][1000 genomes]
rs4887002	0.84[AFR][1000 genomes]
rs7169882	0.86[AFR][1000 genomes]
rs7170101	0.83[AFR][1000 genomes]
rs7170286	0.86[AFR][1000 genomes]
rs7170452	0.84[AFR][1000 genomes]
rs7175192	0.84[AFR][1000 genomes]
rs7175235	0.87[AFR][1000 genomes]
rs7175975	0.82[AFR][1000 genomes]
rs7180684	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8025423	0.86[AFR][1000 genomes]
rs8033216	0.86[AFR][1000 genomes]
rs894295	0.86[AFR][1000 genomes]
rs894296	0.86[AFR][1000 genomes]
rs894302	0.84[AFR][1000 genomes]
rs9788640	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78361600-78369200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr15:78362800-78369200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr15:78365200-78368400	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr15:78365200-78368400	Weak transcription	Fetal Brain Female	brain
5	chr15:78365400-78368400	Weak transcription	Small Intestine	intestine
6	chr15:78366800-78369600	Flanking Active TSS	Adipose Nuclei	Adipose
7	chr15:78367000-78368400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr15:78367000-78369000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr15:78367600-78368400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr15:78367600-78368600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
11	chr15:78367600-78369000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr15:78367600-78369000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
13	chr15:78367600-78370400	Active TSS	Ovary	ovary
14	chr15:78367800-78368400	Enhancers	Primary hematopoietic stem cells	blood
15	chr15:78367800-78368400	Active TSS	Fetal Intestine Large	intestine
16	chr15:78367800-78368800	Flanking Active TSS	Primary T cells from cord blood	blood
17	chr15:78367800-78368800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr15:78367800-78368800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
19	chr15:78367800-78368800	Flanking Active TSS	HSMM	muscle
20	chr15:78367800-78368800	Flanking Active TSS	NHLF	lung
21	chr15:78367800-78369000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr15:78367800-78369000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr15:78367800-78369000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
24	chr15:78367800-78369000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr15:78367800-78369000	Flanking Active TSS	Liver	Liver
26	chr15:78367800-78369000	Flanking Active TSS	Thymus	Thymus
27	chr15:78367800-78369000	Flanking Active TSS	HepG2	liver
28	chr15:78367800-78369000	Flanking Active TSS	NHEK	skin
29	chr15:78367800-78369200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr15:78367800-78369200	Flanking Active TSS	Placenta	Placenta
31	chr15:78367800-78369200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
32	chr15:78367800-78369400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr15:78367800-78369400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr15:78367800-78369400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
35	chr15:78367800-78369400	Flanking Active TSS	Duodenum Mucosa	Duodenum
36	chr15:78367800-78369400	Flanking Active TSS	Fetal Muscle Leg	muscle
37	chr15:78367800-78369400	Flanking Active TSS	NH-A	brain
38	chr15:78367800-78369400	Flanking Active TSS	Osteobl	bone
39	chr15:78367800-78369600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr15:78367800-78369600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr15:78367800-78369600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr15:78367800-78369600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
43	chr15:78367800-78369600	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
44	chr15:78367800-78369600	Flanking Active TSS	Hela-S3	cervix
45	chr15:78367800-78369600	Flanking Active TSS	HUVEC	blood vessel
46	chr15:78367800-78369600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
47	chr15:78367800-78370400	Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr15:78367800-78370600	Active TSS	ES-I3 Cell Line	embryonic stem cell
49	chr15:78367800-78370600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
50	chr15:78368000-78368400	Flanking Active TSS	Right Atrium	heart

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