Variant report

Variant	rs35242457
Chromosome Location	chr5:79552090-79552091
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:389)
CpG islands
(count:61)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:389 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:79551301-79553686	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr5:79551635-79552277	HepG2	liver:	n/a	n/a
3	STAT3	chr5:79551950-79552214	MCF10A-Er-Src	breast:	n/a	n/a
4	RFX5	chr5:79551684-79552495	Hela-S3	cervix:	n/a	n/a
5	MYC	chr5:79551242-79552571	K562	blood:	n/a	n/a
6	GTF2F1	chr5:79551638-79552181	K562	blood:	n/a	n/a
7	NRF1	chr5:79551649-79552226	GM12878	blood:	n/a	n/a
8	POLR2A	chr5:79551304-79552662	HepG2	liver:	n/a	n/a
9	REST	chr5:79550758-79552724	H1-neurons	neurons:	n/a	chr5:79551622-79551635 chr5:79551792-79551805 chr5:79551571-79551584 chr5:79551626-79551639 chr5:79551349-79551367 chr5:79551451-79551464 chr5:79552262-79552272
10	MAZ	chr5:79551669-79552515	GM12878	blood:	n/a	n/a
11	POLR2A	chr5:79550560-79552694	IMR90	lung:	n/a	n/a
12	JUND	chr5:79551655-79552509	K562	blood:	n/a	n/a
13	SIN3AK20	chr5:79550325-79552752	MCF-7	breast:	n/a	n/a
14	POLR2A	chr5:79550964-79552705	MCF-7	breast:	n/a	n/a
15	POLR2A	chr5:79551937-79552773	GM12878	blood:	n/a	n/a
16	POLR2A	chr5:79551144-79552505	MCF-7	breast:	n/a	n/a
17	MYC	chr5:79551981-79552165	MCF-7	breast:	n/a	n/a
18	BCLAF1	chr5:79551946-79552491	GM12878	blood:	n/a	chr5:79551979-79551992 chr5:79551984-79551993 chr5:79552012-79552021 chr5:79551980-79551993
19	FOXP2	chr5:79551925-79552197	SK-N-MC	brain:	n/a	n/a
20	USF1	chr5:79551856-79552096	SK-N-SH_RA	brain:	n/a	chr5:79551974-79551990
21	POLR2A	chr5:79551242-79552767	K562	blood:	n/a	n/a
22	POLR2A	chr5:79551545-79552357	ECC-1	luminal epithelium:	n/a	n/a
23	STAT1	chr5:79551707-79552545	GM12878	blood:	n/a	chr5:79552234-79552242
24	MAX	chr5:79550905-79552356	ECC-1	luminal epithelium:	n/a	n/a
25	POLR2A	chr5:79551902-79552459	GM12892	blood:	n/a	n/a
26	HDAC2	chr5:79551562-79552254	HepG2	liver:	n/a	n/a
27	TBP	chr5:79550898-79552703	H1-hESC	embryonic stem cell:	n/a	n/a
28	YY1	chr5:79551512-79552264	K562	blood:	n/a	chr5:79551773-79551787 chr5:79551571-79551585
29	POLR2A	chr5:79551643-79552458	GM12878	blood:	n/a	n/a
30	ETS1	chr5:79551889-79552362	A549	lung:	n/a	chr5:79552010-79552020 chr5:79552010-79552021 chr5:79552012-79552021 chr5:79551981-79551992
31	MAX	chr5:79550460-79552480	MCF-7	breast:	n/a	chr5:79550647-79550657 chr5:79550647-79550657
32	POLR2A	chr5:79551670-79552243	HepG2	liver:	n/a	n/a
33	POLR2A	chr5:79551939-79552646	Hela-S3	cervix:	n/a	n/a
34	EP300	chr5:79551718-79552608	GM12878	blood:	n/a	chr5:79551821-79551837
35	TCF12	chr5:79551425-79552434	ECC-1	luminal epithelium:	n/a	n/a
36	E2F6	chr5:79551197-79552287	H1-hESC	embryonic stem cell:	n/a	chr5:79551527-79551539 chr5:79551574-79551584
37	POLR2A	chr5:79551943-79552766	Hela-S3	cervix:	n/a	n/a
38	TAF1	chr5:79551941-79552215	GM12891	blood:	n/a	n/a
39	POLR2A	chr5:79551653-79552463	PANC-1	pancreas:	n/a	n/a
40	TAF1	chr5:79551481-79552790	H1-hESC	embryonic stem cell:	n/a	n/a
41	ZEB1	chr5:79551934-79552202	GM12878	blood:	n/a	n/a
42	ATF2	chr5:79551904-79552204	GM12878	blood:	n/a	n/a
43	POU2F2	chr5:79551953-79552212	GM12878	blood:	n/a	n/a
44	PAX5	chr5:79551937-79552203	GM12878	blood:	n/a	chr5:79552012-79552021
45	POLR2A	chr5:79551623-79552590	GM18951	blood:	n/a	n/a
46	PML	chr5:79551665-79552453	K562	blood:	n/a	n/a
47	MXI1	chr5:79551203-79552471	HepG2	liver:	n/a	n/a
48	E2F6	chr5:79551305-79552377	A549	lung:	n/a	chr5:79551527-79551539 chr5:79551574-79551584
49	SIN3A	chr5:79551273-79552300	GM12878	blood:	n/a	chr5:79552277-79552288 chr5:79551823-79551834 chr5:79552263-79552272
50	POLR2A	chr5:79551719-79552194	HepG2	liver:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:79552065-79552115	T-47D	breast:	n/a
2	chr5:79552065-79552115	Hepatocyte	liver:	n/a
3	chr5:79552065-79552115	HMEC	breast:	n/a
4	chr5:79552065-79552115	ECC-1	luminal epithelium:	n/a
5	chr5:79552065-79552115	SAEC	small airway:	n/a
6	chr5:79552065-79552115	NT2-D1	testis:	n/a
7	chr5:79552065-79552115	AG04450	lung:	fetal
8	chr5:79552065-79552115	K562	blood:	n/a
9	chr5:79552065-79552115	SKMC	muscle:	n/a
10	chr5:79552065-79552115	HCPEpiC	choroid plexus:	n/a
11	chr5:79552065-79552115	HRPEpiC	eye:	n/a
12	chr5:79552065-79552115	SK-N-SH_RA	brain:	n/a
13	chr5:79552065-79552115	HRCEpiC	kidney:	n/a
14	chr5:79552065-79552115	GM12891	blood:	n/a
15	chr5:79552065-79552115	LNCaP	prostate:	n/a
16	chr5:79552065-79552115	HAEpiC	amniotic membrane:	n/a
17	chr5:79552065-79552115	SK-N-SH	brain:	n/a
18	chr5:79552065-79552115	BE2_C	brain:	n/a
19	chr5:79552065-79552115	GM12878	blood:	n/a
20	chr5:79552065-79552115	Jurkat	blood:	n/a
21	chr5:79552065-79552115	AG04449	skin:	fetal
22	chr5:79552065-79552115	ovcar-3	ovarian:	n/a
23	chr5:79552065-79552115	Hela-S3	cervix:	n/a
24	chr5:79552065-79552115	NHBE	bronchial:	n/a
25	chr5:79552065-79552115	RPTEC	kidney:	n/a
26	chr5:79552065-79552115	AG09309	skin:	n/a
27	chr5:79552065-79552115	SK-N-MC	brain:	n/a
28	chr5:79552065-79552115	HCM	heart:	n/a
29	chr5:79552065-79552115	MCF-7	breast:	n/a
30	chr5:79552065-79552115	HPAEpiC	pulmonary alveolar:	n/a
31	chr5:79552065-79552115	AG09319	gingival:	n/a
32	chr5:79552065-79552115	HUVEC	blood vessel:	n/a
33	chr5:79552065-79552115	CMK	blood:	n/a
34	chr5:79552065-79552115	Caco-2	colon:	n/a
35	chr5:79552065-79552115	PANC-1	pancreas:	n/a
36	chr5:79552065-79552115	HCF	heart:	n/a
37	chr5:79552065-79552115	BJ	skin:	n/a
38	chr5:79552065-79552115	H1-hESC	embryonic stem cell:	embryo
39	chr5:79552065-79552115	HepG2	liver:	n/a
40	chr5:79552065-79552115	A549	lung:	n/a
41	chr5:79552065-79552115	IMR90	lung:	fetal
42	chr5:79552065-79552115	HNPCEpiC	eye:	n/a
43	chr5:79552065-79552115	ProgFib	skin:	n/a
44	chr5:79552065-79552115	AG10803	skin:	n/a
45	chr5:79552065-79552115	PFSK-1	brain:	n/a
46	chr5:79552065-79552115	HCT-116	colon:	n/a
47	chr5:79552065-79552115	NH-A	brain:	n/a
48	chr5:79552065-79552115	GM06990	blood:	n/a
49	chr5:79552065-79552115	HEEpiC	esophagus:	n/a
50	chr5:79552065-79552115	MCF10A-Er-Src	breast:	n/a

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:79533016..79538413-chr5:79547668..79554494,9	MCF-7	breast:
2	chr5:79551714..79553387-chr5:79600959..79603373,2	MCF-7	breast:
3	chr2:85133861..85134462-chr5:79552062..79552585,2	Hela-S3	cervix:
4	chr3:57541973..57542494-chr5:79552033..79552584,2	Hela-S3	cervix:
5	chr1:94146452..94147094-chr5:79551449..79552398,2	Hela-S3	cervix:
6	chr16:88717069..88717837-chr5:79551730..79552565,2	Hela-S3	cervix:
7	chr12:49412361..49413149-chr5:79551650..79552467,2	Hela-S3	cervix:
8	chr5:79423046..79425756-chr5:79550269..79553191,3	MCF-7	breast:
9	chr13:111566819..111567379-chr5:79552056..79552610,2	Hela-S3	cervix:
10	chr5:79551940..79553819-chr5:79583258..79585163,2	K562	blood:
11	chr5:79550504..79553635-chr5:79702210..79704282,3	K562	blood:
12	chr5:79529349..79531030-chr5:79552067..79554937,3	K562	blood:
13	chr18:48494020..48494871-chr5:79551809..79552561,2	Hela-S3	cervix:
14	chr5:79462247..79466170-chr5:79549724..79555274,4	MCF-7	breast:

No data

Variant related genes	Relation type
SERINC5	TF binding region
SERINC5	CpG island
ENSG00000039319	Chromatin interaction
ENSG00000267699	Chromatin interaction
ENSG00000137936	Chromatin interaction
ENSG00000164300	Chromatin interaction
ENSG00000181929	Chromatin interaction
ENSG00000141642	Chromatin interaction
ENSG00000239159	Chromatin interaction
ENSG00000251828	Chromatin interaction
ENSG00000088448	Chromatin interaction
ENSG00000141646	Chromatin interaction
ENSG00000174840	Chromatin interaction
ENSG00000186854	Chromatin interaction
ENSG00000251675	Chromatin interaction
ENSG00000249438	Chromatin interaction
ENSG00000051523	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs13153456	0.80[AMR][1000 genomes]
rs13179394	0.80[AMR][1000 genomes]
rs13179638	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13181284	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13188642	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13190128	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13190586	0.80[AMR][1000 genomes]
rs17201222	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17260885	0.80[AMR][1000 genomes]
rs34006305	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34286825	0.85[AMR][1000 genomes]
rs34325845	0.80[AMR][1000 genomes]
rs34445888	0.80[AMR][1000 genomes]
rs34550632	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34700139	0.80[AMR][1000 genomes]
rs34844945	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35155855	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35314308	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35327965	0.80[AMR][1000 genomes]
rs35375564	0.85[AMR][1000 genomes]
rs35408097	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35720953	0.80[AMR][1000 genomes]
rs35762887	0.97[EUR][1000 genomes]
rs35860790	0.80[AMR][1000 genomes]
rs35916537	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs67405165	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs71636211	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs71636213	0.80[AMR][1000 genomes]
rs72776301	0.95[AMR][1000 genomes];0.98[EUR][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	nsv432748	chr5:79300434-79577760	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv948807	chr5:79549207-79805765	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	esv3366910	chr5:79550846-79553244	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79548800-79552600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
2	chr5:79549000-79553000	Active TSS	Rectal Smooth Muscle	rectum
3	chr5:79549200-79553400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr5:79549200-79553400	Active TSS	Fetal Kidney	kidney
5	chr5:79549400-79552400	Active TSS	Primary T helper naive cells from peripheral blood	blood
6	chr5:79549400-79553400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr5:79549600-79552400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
8	chr5:79549600-79553000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:79549800-79552400	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr5:79549800-79552600	Active TSS	Primary T helper cells PMA-I stimulated	--
11	chr5:79549800-79552800	Active TSS	Esophagus	oesophagus
12	chr5:79549800-79552800	Active TSS	Fetal Intestine Large	intestine
13	chr5:79549800-79553000	Active TSS	Primary T killer memory cells from peripheral blood	blood
14	chr5:79549800-79554600	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr5:79550000-79553000	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr5:79550000-79553600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr5:79550000-79554200	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr5:79550200-79552200	Active TSS	Primary T cells fromperipheralblood	blood
19	chr5:79550200-79552400	Active TSS	Brain Cingulate Gyrus	brain
20	chr5:79550200-79552600	Active TSS	Ovary	ovary
21	chr5:79550200-79553000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr5:79550200-79553000	Active TSS	Colonic Mucosa	Colon
23	chr5:79550200-79553600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr5:79550200-79553600	Active TSS	Right Ventricle	heart
25	chr5:79550200-79554000	Active TSS	H9 Cell Line	embryonic stem cell
26	chr5:79550400-79552400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
27	chr5:79550400-79552400	Active TSS	Fetal Muscle Trunk	muscle
28	chr5:79550400-79552600	Active TSS	Gastric	stomach
29	chr5:79550400-79552600	Active TSS	Sigmoid Colon	Sigmoid Colon
30	chr5:79550400-79552600	Active TSS	Small Intestine	intestine
31	chr5:79550400-79552800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
32	chr5:79550400-79552800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr5:79550400-79552800	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr5:79550400-79553000	Active TSS	A549	lung
35	chr5:79550400-79553600	Active TSS	Brain Angular Gyrus	brain
36	chr5:79550400-79553600	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr5:79550400-79553800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr5:79550600-79552200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
39	chr5:79550600-79552200	Active TSS	Fetal Brain Female	brain
40	chr5:79550600-79552200	Active TSS	Placenta Amnion	Placenta Amnion
41	chr5:79550600-79552400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr5:79550600-79552400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
43	chr5:79550600-79552400	Active TSS	HSMMtube	muscle
44	chr5:79550600-79552600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr5:79550600-79552600	Active TSS	Aorta	Aorta
46	chr5:79550600-79552600	Active TSS	Pancreas	Pancrea
47	chr5:79550600-79552600	Active TSS	Skeletal Muscle Male	skeletal muscle
48	chr5:79550600-79552800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr5:79550600-79552800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
50	chr5:79550600-79552800	Active TSS	Fetal Intestine Small	intestine

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