Variant report

Variant	rs13171100
Chromosome Location	chr5:113391252-113391253
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	POLR2A	chr5:113390850-113391533	H1-neurons	neurons:	n/a	n/a
2	SIN3A	chr5:113390963-113391671	H1-hESC	embryonic stem cell:	n/a	chr5:113391248-113391261 chr5:113391382-113391395 chr5:113391176-113391187
3	ZNF143	chr5:113391043-113391426	H1-hESC	embryonic stem cell:	n/a	n/a
4	USF2	chr5:113391074-113391362	H1-hESC	embryonic stem cell:	n/a	chr5:113391255-113391271 chr5:113391215-113391231
5	TBP	chr5:113390960-113391389	H1-hESC	embryonic stem cell:	n/a	n/a
6	MXI1	chr5:113391055-113391330	H1-hESC	embryonic stem cell:	n/a	n/a
7	MAX	chr5:113391043-113392288	H1-hESC	embryonic stem cell:	n/a	n/a
8	TAF1	chr5:113390945-113391334	H1-hESC	embryonic stem cell:	n/a	n/a
9	TEAD4	chr5:113391016-113391373	H1-hESC	embryonic stem cell:	n/a	n/a
10	REST	chr5:113390860-113391454	H1-neurons	neurons:	n/a	chr5:113391383-113391393 chr5:113391257-113391270
11	CTCF	chr5:113391120-113391270	HFF	foreskin:	n/a	n/a
12	GTF2F1	chr5:113391060-113391405	H1-hESC	embryonic stem cell:	n/a	n/a
13	RAD21	chr5:113390927-113391322	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTBP2	chr5:113390946-113392094	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr5:113391240-113391390	NHDF-neo	bronchial:	n/a	n/a
16	MAZ	chr5:113390532-113392128	IMR90	lung:	n/a	n/a
17	REST	chr5:113390598-113391613	H1-neurons	neurons:	n/a	chr5:113391383-113391393 chr5:113390760-113390769 chr5:113391257-113391270
18	JUND	chr5:113390962-113391583	H1-hESC	embryonic stem cell:	n/a	chr5:113391148-113391157 chr5:113391080-113391088
19	HA-E2F1	chr5:113390667-113391610	MCF-7	breast:	n/a	chr5:113390911-113390928 chr5:113391153-113391165
20	MEF2A	chr5:113390830-113391370	SK-N-SH	brain:	n/a	chr5:113391109-113391125 chr5:113391106-113391127 chr5:113391110-113391125 chr5:113391112-113391123 chr5:113391113-113391122 chr5:113391111-113391125 chr5:113391106-113391127
21	MAX	chr5:113390920-113392406	H1-hESC	embryonic stem cell:	n/a	n/a
22	MAX	chr5:113391093-113391378	ECC-1	luminal epithelium:	n/a	n/a
23	MYC	chr5:113391059-113391748	H1-hESC	embryonic stem cell:	n/a	n/a
24	MAX	chr5:113391006-113392307	H1-hESC	embryonic stem cell:	n/a	n/a
25	E2F6	chr5:113390926-113391464	H1-hESC	embryonic stem cell:	n/a	chr5:113391153-113391165
26	CHD2	chr5:113391017-113391736	H1-hESC	embryonic stem cell:	n/a	chr5:113391383-113391393
27	CHD1	chr5:113391235-113391476	H1-hESC	embryonic stem cell:	n/a	chr5:113391383-113391393
28	TAF1	chr5:113390949-113391432	H1-hESC	embryonic stem cell:	n/a	n/a
29	JUND	chr5:113391122-113391297	H1-hESC	embryonic stem cell:	n/a	chr5:113391148-113391157
30	CTCF	chr5:113391005-113391314	IMR90	lung:	n/a	n/a
31	POLR2A	chr5:113390875-113391426	H1-neurons	neurons:	n/a	n/a
32	RAD21	chr5:113391033-113391333	H1-hESC	embryonic stem cell:	n/a	n/a
33	TCF12	chr5:113390951-113391327	H1-hESC	embryonic stem cell:	n/a	n/a
34	RAD21	chr5:113390896-113391431	H1-hESC	embryonic stem cell:	n/a	n/a
35	SIN3AK20	chr5:113391018-113391393	H1-hESC	embryonic stem cell:	n/a	n/a
36	E2F6	chr5:113390896-113392516	H1-hESC	embryonic stem cell:	n/a	chr5:113390911-113390928 chr5:113391153-113391165 chr5:113391650-113391658 chr5:113391651-113391658

Variant related genes	Relation type
ENSG00000251628	TF binding region

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10076931	0.88[EUR][1000 genomes]
rs1487227	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs873511	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][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	nsv471042	chr5:113160490-113440892	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:113390000-113392200	Flanking Active TSS	Stomach Smooth Muscle	stomach
2	chr5:113390200-113391400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
3	chr5:113390200-113392400	Active TSS	Pancreas	Pancrea
4	chr5:113390600-113391600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
5	chr5:113390600-113391800	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:113390600-113391800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
7	chr5:113390600-113392000	Active TSS	Brain Cingulate Gyrus	brain
8	chr5:113390600-113392000	Active TSS	Brain Substantia Nigra	brain
9	chr5:113390600-113392000	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr5:113390600-113392200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr5:113390600-113392400	Active TSS	Right Ventricle	heart
12	chr5:113390800-113391400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr5:113390800-113391400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr5:113390800-113391400	Active TSS	Fetal Kidney	kidney
15	chr5:113390800-113391400	Bivalent/Poised TSS	HSMMtube	muscle
16	chr5:113390800-113391600	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr5:113390800-113391600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr5:113390800-113391600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr5:113390800-113391600	Active TSS	Ovary	ovary
20	chr5:113390800-113391600	Active TSS	Rectal Smooth Muscle	rectum
21	chr5:113390800-113391800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr5:113390800-113391800	Bivalent/Poised TSS	Fetal Lung	lung
23	chr5:113390800-113392000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr5:113390800-113392000	Active TSS	Brain Anterior Caudate	brain
25	chr5:113390800-113392000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
26	chr5:113390800-113392000	Active TSS	Skeletal Muscle Male	skeletal muscle
27	chr5:113390800-113392200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr5:113390800-113392200	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr5:113390800-113392200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
30	chr5:113390800-113392200	Active TSS	Colon Smooth Muscle	Colon
31	chr5:113390800-113392200	Active TSS	Psoas Muscle	Psoas
32	chr5:113390800-113392400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
33	chr5:113390800-113392400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
34	chr5:113390800-113392400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
35	chr5:113390800-113392400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
36	chr5:113390800-113392400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
37	chr5:113390800-113392400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
38	chr5:113390800-113392400	Active TSS	Brain Angular Gyrus	brain
39	chr5:113390800-113392400	Active TSS	Fetal Brain Female	brain
40	chr5:113390800-113392600	Active TSS	Left Ventricle	heart
41	chr5:113390800-113393000	Active TSS	Right Atrium	heart
42	chr5:113391000-113391400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
43	chr5:113391000-113391400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
44	chr5:113391000-113391400	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
45	chr5:113391000-113391400	Bivalent/Poised TSS	NH-A	brain
46	chr5:113391000-113391600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr5:113391000-113391600	Flanking Bivalent TSS/Enh	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr5:113391000-113391600	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr5:113391000-113391600	Active TSS	Brain Germinal Matrix	brain
50	chr5:113391000-113391600	Active TSS	Placenta Amnion	Placenta Amnion

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