Variant report

Variant	rs56398604
Chromosome Location	chr5:16509500-16509501
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	ESR1	chr5:16508867-16509686	ECC-1	luminal epithelium:	n/a	chr5:16509529-16509544
2	MAX	chr5:16508916-16509749	ECC-1	luminal epithelium:	n/a	n/a
3	CEBPB	chr5:16509180-16509610	MCF-7	breast:	n/a	chr5:16509436-16509449 chr5:16509377-16509388 chr5:16509376-16509389
4	POLR2A	chr5:16508671-16509718	Hela-S3	cervix:	n/a	n/a
5	ESR1	chr5:16508890-16509644	ECC-1	luminal epithelium:	n/a	chr5:16509529-16509544
6	GATA3	chr5:16509311-16509602	T-47D	breast:	n/a	n/a
7	MAX	chr5:16508653-16509679	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr5:16508790-16509627	Hela-S3	cervix:	n/a	n/a
9	MYC	chr5:16509286-16509651	NB4	blood:	n/a	n/a
10	GTF2F1	chr5:16508867-16509669	Hela-S3	cervix:	n/a	n/a
11	SIN3AK20	chr5:16508983-16509671	MCF-7	breast:	n/a	n/a
12	FOS	chr5:16509024-16509576	MCF10A-Er-Src	breast:	n/a	n/a
13	MYC	chr5:16508452-16509677	MCF10A-Er-Src	breast:	n/a	n/a
14	SMARCC2	chr5:16508482-16509687	Hela-S3	cervix:	n/a	n/a
15	MAX	chr5:16509282-16509624	ECC-1	luminal epithelium:	n/a	n/a
16	MAX	chr5:16508694-16509659	Hela-S3	cervix:	n/a	n/a
17	ESR1	chr5:16509353-16509578	ECC-1	luminal epithelium:	n/a	chr5:16509529-16509544
18	ESR1	chr5:16509256-16509630	T-47D	breast:	n/a	chr5:16509529-16509544
19	POLR2A	chr5:16509050-16509567	Hela-S3	cervix:	n/a	n/a
20	RAD21	chr5:16508801-16509618	Hela-S3	cervix:	n/a	chr5:16508961-16508973
21	CEBPB	chr5:16509214-16509612	ECC-1	luminal epithelium:	n/a	chr5:16509436-16509449 chr5:16509377-16509388 chr5:16509376-16509389
22	MAFK	chr5:16508833-16509612	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr5:16508933-16509674	Hela-S3	cervix:	n/a	n/a
24	MAZ	chr5:16508892-16509654	Hela-S3	cervix:	n/a	n/a
25	JUND	chr5:16508518-16509664	Hela-S3	cervix:	n/a	chr5:16509612-16509621
26	MYC	chr5:16508545-16509668	MCF10A-Er-Src	breast:	n/a	n/a
27	TCF7L2	chr5:16508752-16509560	Hela-S3	cervix:	n/a	n/a
28	MAX	chr5:16509294-16509655	NB4	blood:	n/a	n/a
29	SMARCC1	chr5:16508615-16509665	Hela-S3	cervix:	n/a	n/a
30	ESR1	chr5:16509173-16509659	T-47D	breast:	n/a	chr5:16509529-16509544
31	NR2F2	chr5:16509016-16509618	MCF-7	breast:	n/a	n/a
32	ESR1	chr5:16509372-16509640	ECC-1	luminal epithelium:	n/a	chr5:16509529-16509544
33	HA-E2F1	chr5:16508833-16509680	MCF-7	breast:	n/a	n/a
34	FOS	chr5:16509008-16509575	MCF10A-Er-Src	breast:	n/a	n/a
35	GATA3	chr5:16509038-16509773	MCF-7	breast:	n/a	chr5:16509127-16509138
36	POLR2A	chr5:16508518-16509764	MCF10A-Er-Src	breast:	n/a	n/a
37	NR2F2	chr5:16509032-16509647	MCF-7	breast:	n/a	n/a
38	ESR1	chr5:16509296-16509677	T-47D	breast:	n/a	chr5:16509529-16509544
39	RFX5	chr5:16508772-16509585	Hela-S3	cervix:	n/a	n/a
40	TFAP2C	chr5:16508845-16509684	Hela-S3	cervix:	n/a	n/a
41	ZNF217	chr5:16509027-16509551	MCF-7	breast:	n/a	n/a
42	MAX	chr5:16509045-16509719	MCF-7	breast:	n/a	n/a
43	ESR1	chr5:16509066-16509675	ECC-1	luminal epithelium:	n/a	chr5:16509529-16509544
44	CEBPB	chr5:16509273-16509547	HepG2	liver:	n/a	chr5:16509436-16509449 chr5:16509377-16509388 chr5:16509376-16509389
45	SMC3	chr5:16508830-16509627	Hela-S3	cervix:	n/a	n/a
46	TFAP2A	chr5:16508942-16509676	Hela-S3	cervix:	n/a	n/a
47	FOS	chr5:16508932-16509609	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr5:16508500-16509825	Hela-S3	cervix:	n/a	n/a
49	ZNF143	chr5:16509028-16509639	Hela-S3	cervix:	n/a	n/a
50	STAT3	chr5:16509087-16509620	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
FAM134B	TF binding region

rs_ID	r²[population]
rs16868708	0.90[EUR][1000 genomes]
rs16868712	0.88[EUR][1000 genomes]
rs16868714	0.88[EUR][1000 genomes]
rs16868716	0.88[EUR][1000 genomes]
rs16868721	0.88[EUR][1000 genomes]
rs62369674	0.91[EUR][1000 genomes]
rs62369676	0.90[EUR][1000 genomes]
rs62369678	0.91[EUR][1000 genomes]
rs62369679	0.87[EUR][1000 genomes]
rs62369680	0.90[EUR][1000 genomes]
rs62369681	0.91[EUR][1000 genomes]
rs62369682	0.91[EUR][1000 genomes]
rs62369683	0.88[EUR][1000 genomes]
rs62369684	0.88[EUR][1000 genomes]
rs62369685	0.88[EUR][1000 genomes]
rs62369686	0.88[EUR][1000 genomes]
rs62369709	0.88[EUR][1000 genomes]
rs62369710	0.86[EUR][1000 genomes]
rs62369711	0.86[EUR][1000 genomes]
rs62369712	0.86[EUR][1000 genomes]
rs62369713	0.86[EUR][1000 genomes]
rs62369714	0.86[EUR][1000 genomes]
rs62369715	0.86[EUR][1000 genomes]

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16505600-16509800	Active TSS	Skeletal Muscle Female	skeletal muscle
2	chr5:16506800-16509800	Weak transcription	Primary T cells from cord blood	blood
3	chr5:16507400-16509600	Active TSS	Colonic Mucosa	Colon
4	chr5:16507400-16509600	Enhancers	NHDF-Ad	bronchial
5	chr5:16507600-16509600	Flanking Active TSS	HMEC	breast
6	chr5:16507800-16509600	Enhancers	Brain Hippocampus Middle	brain
7	chr5:16507800-16509600	Flanking Active TSS	Hela-S3	cervix
8	chr5:16507800-16509600	Enhancers	Osteobl	bone
9	chr5:16508000-16509600	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr5:16508200-16509600	Enhancers	Muscle Satellite Cultured Cells	--
11	chr5:16508400-16509600	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr5:16508600-16509600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr5:16508600-16509600	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr5:16508600-16509600	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr5:16508600-16509600	Flanking Active TSS	NHEK	skin
16	chr5:16508800-16509600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr5:16508800-16509600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
18	chr5:16508800-16509600	Enhancers	Brain Substantia Nigra	brain
19	chr5:16508800-16509600	Active TSS	Monocytes-CD14+_RO01746	blood
20	chr5:16508800-16509800	Enhancers	Fetal Heart	heart
21	chr5:16508800-16511600	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr5:16509000-16509600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr5:16509000-16509600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr5:16509000-16509600	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr5:16509000-16509600	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr5:16509000-16509600	Enhancers	Ovary	ovary
27	chr5:16509000-16509800	Enhancers	HSMMtube	muscle
28	chr5:16509000-16510600	Enhancers	Placenta	Placenta
29	chr5:16509200-16509600	Enhancers	H9 Cell Line	embryonic stem cell
30	chr5:16509200-16509600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr5:16509200-16509600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr5:16509200-16509600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr5:16509200-16509600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr5:16509200-16509600	Enhancers	Brain Anterior Caudate	brain
35	chr5:16509200-16509600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
36	chr5:16509200-16510200	Enhancers	Fetal Intestine Small	intestine
37	chr5:16509200-16510400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr5:16509200-16524200	Weak transcription	Brain Cingulate Gyrus	brain
39	chr5:16509400-16509600	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr5:16509400-16509600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr5:16509400-16509600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr5:16509400-16509600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr5:16509400-16509600	Enhancers	Fetal Muscle Leg	muscle
44	chr5:16509400-16509600	Flanking Active TSS	Pancreas	Pancrea
45	chr5:16509400-16509600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
46	chr5:16509400-16509600	Flanking Active TSS	Right Atrium	heart
47	chr5:16509400-16509800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr5:16509400-16509800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr5:16509400-16509800	Enhancers	Stomach Mucosa	stomach
50	chr5:16509400-16510000	Enhancers	Liver	Liver

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