Variant report

Variant	rs7175192
Chromosome Location	chr15:78296150-78296151
allele	A/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	FOXA1	chr15:78295938-78296314	T-47D	breast:	n/a	chr15:78296186-78296201
2	MAX	chr15:78295744-78296410	MCF-7	breast:	n/a	n/a
3	POLR2A	chr15:78295914-78296416	HL-60	blood:	n/a	n/a
4	NR2F2	chr15:78295654-78296507	MCF-7	breast:	n/a	n/a
5	MAX	chr15:78295774-78296320	ECC-1	luminal epithelium:	n/a	n/a
6	HDAC2	chr15:78295727-78296468	MCF-7	breast:	n/a	n/a
7	FOXA1	chr15:78295845-78296308	T-47D	breast:	n/a	chr15:78296186-78296201
8	MYC	chr15:78295867-78296199	MCF-7	breast:	n/a	n/a
9	MAX	chr15:78295784-78296356	ECC-1	luminal epithelium:	n/a	n/a
10	MAX	chr15:78295686-78296829	MCF-7	breast:	n/a	n/a

Variant related genes	Relation type
TBC1D2B	TF binding region

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs1053506	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10775215	1.00[ASN][1000 genomes]
rs11072725	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11072726	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11633329	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11633569	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11636889	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11854102	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12595595	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12898535	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12900731	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12901492	1.00[ASN][1000 genomes]
rs12913206	1.00[ASN][1000 genomes]
rs12915731	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12915847	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12916320	1.00[ASN][1000 genomes]
rs1348256	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17477813	0.80[AFR][1000 genomes]
rs1837911	1.00[ASN][1000 genomes]
rs1837912	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2015951	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2044100	0.98[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2867984	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28680277	1.00[ASN][1000 genomes]
rs3972617	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4243072	1.00[ASN][1000 genomes]
rs4243073	0.84[AFR][1000 genomes]
rs4316722	1.00[ASN][1000 genomes]
rs4411474	1.00[ASN][1000 genomes]
rs4886551	1.00[ASN][1000 genomes]
rs4886552	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4886556	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4886985	1.00[ASN][1000 genomes]
rs4886986	1.00[ASN][1000 genomes]
rs4886987	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4886990	1.00[ASN][1000 genomes]
rs4886991	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4886993	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4886997	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4886998	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4887001	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4887002	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4887003	1.00[ASN][1000 genomes]
rs4887004	1.00[ASN][1000 genomes]
rs4997420	0.82[AFR][1000 genomes]
rs61732053	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7163997	1.00[ASN][1000 genomes]
rs7169381	0.81[AFR][1000 genomes]
rs7169882	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7170101	0.93[AFR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7170286	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7170452	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7175235	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7175975	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8025423	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8033216	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs894295	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs894296	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs894302	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9788640	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9920180	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1806097	chr15:77817889-78301377	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	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
3	esv1833316	chr15:78081307-78328108	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78283400-78296400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr15:78283400-78305000	Weak transcription	K562	blood
3	chr15:78283600-78300800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr15:78283800-78301000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr15:78284600-78310200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr15:78284800-78296400	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr15:78285400-78304400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr15:78285800-78299200	Strong transcription	Fetal Intestine Large	intestine
9	chr15:78285800-78309600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr15:78286000-78310400	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr15:78286600-78296400	Strong transcription	Fetal Intestine Small	intestine
12	chr15:78287000-78316000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr15:78287800-78297400	Weak transcription	A549	lung
14	chr15:78288400-78311000	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr15:78288600-78297000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr15:78288600-78303000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr15:78288600-78304400	Strong transcription	Sigmoid Colon	Sigmoid Colon
18	chr15:78288600-78309600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr15:78288600-78309600	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr15:78288600-78309600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr15:78288600-78309600	Strong transcription	Thymus	Thymus
22	chr15:78288800-78304800	Weak transcription	Fetal Kidney	kidney
23	chr15:78288800-78309600	Strong transcription	Primary T helper cells PMA-I stimulated	--
24	chr15:78288800-78310400	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr15:78289000-78309800	Strong transcription	Primary T cells from cord blood	blood
26	chr15:78289400-78299200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr15:78289400-78309800	Strong transcription	Dnd41	blood
28	chr15:78289800-78296400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr15:78289800-78296600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr15:78290000-78296200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr15:78290000-78296400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr15:78290000-78296400	Strong transcription	Fetal Stomach	stomach
33	chr15:78290000-78296400	Strong transcription	NHLF	lung
34	chr15:78290200-78296200	Strong transcription	Osteobl	bone
35	chr15:78291800-78302400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr15:78292400-78296200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr15:78292400-78296400	Strong transcription	Ovary	ovary
38	chr15:78292800-78296400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr15:78292800-78296400	Strong transcription	Fetal Lung	lung
40	chr15:78293000-78298800	Strong transcription	Primary B cells from cord blood	blood
41	chr15:78293200-78296200	Strong transcription	HSMM	muscle
42	chr15:78293200-78296400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr15:78293200-78296600	Strong transcription	Muscle Satellite Cultured Cells	--
44	chr15:78293200-78296600	Strong transcription	Colonic Mucosa	Colon
45	chr15:78293200-78297000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr15:78293200-78309400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr15:78293400-78296400	Strong transcription	Hela-S3	cervix
48	chr15:78293400-78296400	Strong transcription	NHDF-Ad	bronchial
49	chr15:78293400-78296600	Strong transcription	Placenta	Placenta
50	chr15:78293600-78296400	Strong transcription	Spleen	Spleen

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