Variant report

Variant	rs73296347
Chromosome Location	chr10:49460151-49460152
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	MAX	chr10:49459601-49460343	ECC-1	luminal epithelium:	n/a	n/a
2	TCF12	chr10:49459356-49460367	ECC-1	luminal epithelium:	n/a	chr10:49460083-49460090
3	NR2F2	chr10:49459459-49460225	MCF-7	breast:	n/a	n/a
4	STAT3	chr10:49460002-49460254	MCF10A-Er-Src	breast:	n/a	n/a
5	NR2F2	chr10:49459433-49460273	MCF-7	breast:	n/a	n/a
6	MYC	chr10:49459726-49460371	MCF10A-Er-Src	breast:	n/a	n/a
7	NFIC	chr10:49459140-49460423	ECC-1	luminal epithelium:	n/a	n/a
8	MYC	chr10:49459740-49460341	MCF10A-Er-Src	breast:	n/a	n/a
9	FOXA1	chr10:49459748-49460163	ECC-1	luminal epithelium:	n/a	chr10:49459961-49459976
10	POLR2A	chr10:49459798-49460261	MCF10A-Er-Src	breast:	n/a	n/a
11	KAP1	chr10:49459348-49460477	U2OS	brain:	n/a	n/a
12	ESR1	chr10:49459702-49460188	ECC-1	luminal epithelium:	n/a	n/a
13	FOS	chr10:49459986-49460336	MCF10A-Er-Src	breast:	n/a	n/a
14	MAX	chr10:49459606-49460282	ECC-1	luminal epithelium:	n/a	n/a
15	FOS	chr10:49459984-49460334	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr10:49459806-49460325	MCF10A-Er-Src	breast:	n/a	n/a
17	TCF12	chr10:49459476-49460372	ECC-1	luminal epithelium:	n/a	chr10:49460083-49460090
18	MAX	chr10:49459147-49460406	MCF-7	breast:	n/a	n/a
19	FOS	chr10:49460092-49460292	MCF10A-Er-Src	breast:	n/a	n/a
20	KAP1	chr10:49459234-49460287	HEK293	kidney:	n/a	n/a
21	NFIC	chr10:49459118-49460350	ECC-1	luminal epithelium:	n/a	n/a
22	GATA3	chr10:49459692-49460471	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:49455171..49457750-chr10:49459859..49462154,2	K562	blood:
2	chr10:49459652..49462139-chr10:49513267..49515617,2	K562	blood:

Variant related genes	Relation type
FRMPD2	TF binding region
ENSG00000107643	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs11816450	1.00[ASN][1000 genomes]
rs12246849	1.00[ASN][1000 genomes]
rs12262288	1.00[ASN][1000 genomes]
rs1652243	1.00[ASN][1000 genomes]
rs1652245	1.00[ASN][1000 genomes]
rs166815	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs166817	1.00[ASN][1000 genomes]
rs1730444	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1730445	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1730446	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1881733	0.87[ASN][1000 genomes]
rs1881734	0.87[ASN][1000 genomes]
rs204006	1.00[ASN][1000 genomes]
rs2455321	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2463958	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2652408	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2698763	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2698764	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs280605	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs280606	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs280607	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs280608	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs280610	1.00[ASN][1000 genomes]
rs280611	1.00[ASN][1000 genomes]
rs280615	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs280617	1.00[AMR][1000 genomes]
rs386570	1.00[ASN][1000 genomes]
rs399419	1.00[ASN][1000 genomes]
rs413065	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs426153	1.00[ASN][1000 genomes]
rs432971	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs440894	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs440943	1.00[ASN][1000 genomes]
rs477693	1.00[ASN][1000 genomes]
rs477761	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56061348	0.81[AFR][1000 genomes]
rs57211602	1.00[AMR][1000 genomes]
rs572211	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57415323	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59368050	0.83[AMR][1000 genomes]
rs60503953	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61840508	1.00[ASN][1000 genomes]
rs7068083	1.00[AMR][1000 genomes]
rs7068262	1.00[AMR][1000 genomes]
rs7069773	0.83[AMR][1000 genomes]
rs7073154	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7092864	1.00[ASN][1000 genomes]
rs73294264	1.00[ASN][1000 genomes]
rs73296348	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73296379	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73296380	1.00[ASN][1000 genomes]
rs73296381	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73296382	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73296386	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73296387	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7915333	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895366	chr10:49299274-49576454	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv895367	chr10:49333754-49491047	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv895368	chr10:49381635-49551560	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv467190	chr10:49402084-49576878	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv550811	chr10:49402084-49576878	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv895370	chr10:49421173-49484698	Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49457000-49460800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr10:49458200-49460800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr10:49458400-49464000	Weak transcription	Right Atrium	heart
4	chr10:49458800-49460800	Enhancers	Fetal Thymus	thymus
5	chr10:49458800-49463600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr10:49459000-49460400	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr10:49459000-49460800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr10:49459000-49460800	Enhancers	Esophagus	oesophagus
9	chr10:49459000-49461400	Enhancers	Fetal Heart	heart
10	chr10:49459000-49463600	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr10:49459000-49463600	Enhancers	HMEC	breast
12	chr10:49459200-49460400	Enhancers	H9 Cell Line	embryonic stem cell
13	chr10:49459200-49460400	Enhancers	Fetal Kidney	kidney
14	chr10:49459200-49460400	Enhancers	Gastric	stomach
15	chr10:49459200-49460600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr10:49459200-49460800	Enhancers	H1 Cell Line	embryonic stem cell
17	chr10:49459200-49460800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr10:49459200-49460800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr10:49459200-49460800	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr10:49459200-49460800	Enhancers	Pancreas	Pancrea
21	chr10:49459200-49461000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr10:49459200-49461000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr10:49459200-49462200	Enhancers	NHEK	skin
24	chr10:49459400-49460600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr10:49459400-49460600	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr10:49459400-49460600	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr10:49459400-49460800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr10:49459400-49460800	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr10:49459400-49460800	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr10:49459400-49460800	Enhancers	Left Ventricle	heart
31	chr10:49459400-49461000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr10:49459600-49461000	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr10:49459800-49460400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr10:49459800-49460600	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr10:49459800-49463400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr10:49460000-49460200	Enhancers	Placenta Amnion	Placenta Amnion
37	chr10:49460000-49460200	Enhancers	HepG2	liver

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