Variant report

Variant	rs7731632
Chromosome Location	chr5:118691476-118691477
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	POLR2A	chr5:118688526-118696061	GM12878	blood:	n/a	n/a
2	SIN3A	chr5:118691303-118692554	GM12878	blood:	n/a	chr5:118691638-118691649
3	MAX	chr5:118691230-118692029	ECC-1	luminal epithelium:	n/a	n/a
4	HA-E2F1	chr5:118690803-118691952	MCF-7	breast:	n/a	chr5:118691641-118691653 chr5:118690878-118690887
5	MXI1	chr5:118691182-118692384	IMR90	lung:	n/a	n/a
6	POLR2A	chr5:118690622-118693443	GM19193	blood:	n/a	n/a
7	MAX	chr5:118691353-118691936	MCF-7	breast:	n/a	n/a
8	ELF1	chr5:118691233-118691939	GM12878	blood:	n/a	chr5:118691519-118691528
9	POLR2A	chr5:118691416-118691653	H1-hESC	embryonic stem cell:	n/a	n/a
10	TCF12	chr5:118691346-118691916	ECC-1	luminal epithelium:	n/a	n/a
11	MTA3	chr5:118691072-118692474	GM12878	blood:	n/a	n/a
12	PAX5	chr5:118691220-118691896	GM12878	blood:	n/a	n/a
13	RELA	chr5:118690557-118694108	GM12891	blood:	n/a	n/a
14	TBP	chr5:118689422-118692594	GM12878	blood:	n/a	n/a
15	POU2F2	chr5:118691186-118691958	GM12878	blood:	n/a	n/a
16	EP300	chr5:118691333-118691838	GM12878	blood:	n/a	chr5:118691519-118691535 chr5:118691535-118691551 chr5:118691522-118691538 chr5:118691374-118691388
17	TBL1XR1	chr5:118691149-118692499	GM12878	blood:	n/a	n/a
18	MAX	chr5:118691113-118691606	NB4	blood:	n/a	n/a
19	TAF1	chr5:118691281-118691889	GM12892	blood:	n/a	n/a
20	MAZ	chr5:118690555-118692953	IMR90	lung:	n/a	chr5:118692461-118692472
21	CUX1	chr5:118691203-118691794	GM12878	blood:	n/a	n/a
22	E2F6	chr5:118691375-118691956	H1-hESC	embryonic stem cell:	n/a	chr5:118691641-118691653
23	PML	chr5:118690397-118693186	GM12878	blood:	n/a	chr5:118692075-118692083
24	REST	chr5:118691407-118691653	GM12878	blood:	n/a	n/a
25	POU2F2	chr5:118691367-118692059	GM12891	blood:	n/a	chr5:118691998-118692010
26	POLR2A	chr5:118690288-118692832	GM12892	blood:	n/a	n/a
27	YY1	chr5:118691330-118692157	GM12878	blood:	n/a	chr5:118691519-118691528
28	MEF2A	chr5:118691239-118691846	GM12878	blood:	n/a	chr5:118691333-118691347
29	RELA	chr5:118691166-118692619	GM19099	blood:	n/a	n/a
30	NFATC1	chr5:118690799-118691972	GM12878	blood:	n/a	n/a
31	POLR2A	chr5:118690266-118692633	GM12892	blood:	n/a	n/a
32	POLR2A	chr5:118690639-118692349	GM12878	blood:	n/a	n/a
33	USF2	chr5:118691439-118691854	GM12878	blood:	n/a	chr5:118691457-118691473 chr5:118691449-118691465
34	EBF1	chr5:118691303-118691689	GM12878	blood:	n/a	n/a
35	EP300	chr5:118691420-118691794	GM12878	blood:	n/a	chr5:118691519-118691535 chr5:118691535-118691551 chr5:118691522-118691538
36	POLR2A	chr5:118690511-118692628	GM12892	blood:	n/a	n/a
37	MAX	chr5:118691298-118692080	GM12878	blood:	n/a	n/a
38	RELA	chr5:118691236-118692556	GM12878	blood:	n/a	n/a
39	TCF12	chr5:118691327-118691807	GM12878	blood:	n/a	n/a
40	EGR1	chr5:118691412-118691734	ECC-1	luminal epithelium:	n/a	chr5:118691552-118691566
41	NFIC	chr5:118691314-118692629	GM12878	blood:	n/a	n/a
42	RELA	chr5:118690644-118693165	GM10847	blood:	n/a	n/a
43	MYC	chr5:118691376-118691955	H1-hESC	embryonic stem cell:	n/a	n/a
44	RELA	chr5:118691140-118692574	GM15510	blood:	n/a	n/a
45	PAX5	chr5:118691459-118691689	GM12878	blood:	n/a	n/a
46	TAF1	chr5:118691284-118691987	GM12878	blood:	n/a	n/a
47	CHD1	chr5:118688941-118694425	GM12878	blood:	n/a	n/a
48	JUND	chr5:118690972-118691901	H1-hESC	embryonic stem cell:	n/a	n/a
49	BCL3	chr5:118691275-118691906	GM12878	blood:	n/a	chr5:118691526-118691539 chr5:118691546-118691559 chr5:118691527-118691540
50	BCLAF1	chr5:118691253-118692793	GM12878	blood:	n/a	chr5:118691526-118691539 chr5:118691546-118691559 chr5:118691527-118691540 chr5:118691998-118692011

Variant related genes	Relation type
TNFAIP8	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10059175	0.81[EUR][1000 genomes]
rs1396609	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17145265	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3797340	0.84[ASN][1000 genomes]
rs3797341	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3797343	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67328001	0.82[EUR][1000 genomes]
rs6863311	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6864305	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6869512	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6876224	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6877025	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6882237	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6884061	0.86[ASN][1000 genomes]
rs6891084	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6896277	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6896553	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6896559	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6897359	0.82[EUR][1000 genomes]
rs73237292	0.86[ASN][1000 genomes]
rs73237297	0.90[ASN][1000 genomes]
rs73239278	0.83[ASN][1000 genomes]
rs73239280	0.83[ASN][1000 genomes]
rs7707470	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599565	chr5:118661882-118691888	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv882775	chr5:118669094-118691888	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118671200-118695400	Weak transcription	A549	lung
2	chr5:118682600-118693600	Weak transcription	Dnd41	blood
3	chr5:118684000-118692800	Weak transcription	K562	blood
4	chr5:118689600-118692000	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr5:118690000-118691600	Weak transcription	Gastric	stomach
6	chr5:118690400-118692600	Flanking Active TSS	Primary T cells from cord blood	blood
7	chr5:118690600-118691800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr5:118690600-118691800	Active TSS	HepG2	liver
9	chr5:118690600-118692000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
10	chr5:118690600-118692400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
11	chr5:118690600-118693200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
12	chr5:118690600-118693400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
13	chr5:118690600-118700400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
14	chr5:118690800-118692200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr5:118690800-118692200	Flanking Active TSS	Thymus	Thymus
16	chr5:118690800-118692400	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr5:118690800-118692400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
18	chr5:118690800-118692400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr5:118690800-118693800	Active TSS	Rectal Smooth Muscle	rectum
20	chr5:118691000-118691600	Flanking Active TSS	HMEC	breast
21	chr5:118691000-118691600	Flanking Active TSS	NHEK	skin
22	chr5:118691000-118691800	Active TSS	Primary T helper cells PMA-I stimulated	--
23	chr5:118691000-118692000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr5:118691000-118692000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
25	chr5:118691000-118692200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr5:118691000-118692200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
27	chr5:118691000-118692200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr5:118691000-118692400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
29	chr5:118691000-118692400	Active TSS	Esophagus	oesophagus
30	chr5:118691000-118692600	Active TSS	H9 Cell Line	embryonic stem cell
31	chr5:118691000-118692600	Flanking Active TSS	Primary hematopoietic stem cells	blood
32	chr5:118691000-118692600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr5:118691000-118692600	Flanking Active TSS	HUVEC	blood vessel
34	chr5:118691000-118692600	Active TSS	Osteobl	bone
35	chr5:118691000-118693000	Bivalent/Poised TSS	Psoas Muscle	Psoas
36	chr5:118691000-118693000	Active TSS	Right Ventricle	heart
37	chr5:118691000-118693400	Active TSS	HSMMtube	muscle
38	chr5:118691200-118691600	Active TSS	H1 Cell Line	embryonic stem cell
39	chr5:118691200-118691600	Active TSS	Brain Inferior Temporal Lobe	brain
40	chr5:118691200-118691600	Bivalent Enhancer	Fetal Intestine Large	intestine
41	chr5:118691200-118691800	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
42	chr5:118691200-118691800	Bivalent/Poised TSS	Fetal Brain Female	brain
43	chr5:118691200-118691800	Active TSS	Placenta	Placenta
44	chr5:118691200-118692000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr5:118691200-118692000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
46	chr5:118691200-118692000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr5:118691200-118692000	Active TSS	Placenta Amnion	Placenta Amnion
48	chr5:118691200-118692000	Active TSS	Hela-S3	cervix
49	chr5:118691200-118692200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
50	chr5:118691200-118692200	Bivalent/Poised TSS	Brain Germinal Matrix	brain

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