Variant report

Variant	rs562241037
Chromosome Location	chr5:14664471-14664472
allele	-/GA
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	TCF12	chr5:14664235-14665022	ECC-1	luminal epithelium:	n/a	chr5:14664751-14664758
2	GABPA	chr5:14664282-14665046	SK-N-SH	brain:	n/a	chr5:14664715-14664724 chr5:14664717-14664726 chr5:14664715-14664726 chr5:14664645-14664659 chr5:14664715-14664729 chr5:14664712-14664726
3	POLR2A	chr5:14664358-14665049	HepG2	liver:	n/a	n/a
4	TAF1	chr5:14664202-14664897	H1-neurons	neurons:	n/a	n/a
5	ELF1	chr5:14663979-14665027	MCF-7	breast:	n/a	chr5:14664803-14664812 chr5:14664527-14664538
6	HDAC2	chr5:14664267-14665060	HepG2	liver:	n/a	n/a
7	POU2F2	chr5:14664288-14664800	GM12878	blood:	n/a	n/a
8	STAT5A	chr5:14663750-14664778	GM12878	blood:	n/a	chr5:14664526-14664533 chr5:14664590-14664602 chr5:14664532-14664544
9	NR2C2	chr5:14664383-14665277	Hela-S3	cervix:	n/a	chr5:14664765-14664780 chr5:14664769-14664778
10	POLR2A	chr5:14664417-14665066	HCT-116	colon:	n/a	n/a
11	HEY1	chr5:14664342-14665036	HepG2	liver:	n/a	n/a
12	GABPA	chr5:14664213-14664860	H1-hESC	embryonic stem cell:	n/a	chr5:14664715-14664724 chr5:14664717-14664726 chr5:14664715-14664726 chr5:14664645-14664659 chr5:14664715-14664729 chr5:14664712-14664726
13	CEBPB	chr5:14664077-14664870	Hela-S3	cervix:	n/a	n/a
14	SMARCC1	chr5:14663874-14665749	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr5:14663716-14665614	GM19099	blood:	n/a	n/a
16	USF2	chr5:14664437-14664854	H1-hESC	embryonic stem cell:	n/a	chr5:14664652-14664668
17	TEAD4	chr5:14664291-14664867	ECC-1	luminal epithelium:	n/a	n/a
18	YY1	chr5:14664208-14665061	GM12892	blood:	n/a	n/a
19	MYBL2	chr5:14664302-14664839	HepG2	liver:	n/a	n/a
20	MAX	chr5:14663814-14665184	HepG2	liver:	n/a	n/a
21	MYC	chr5:14663850-14665135	K562	blood:	n/a	n/a
22	SPI1	chr5:14664215-14664993	HL-60	blood:	n/a	chr5:14664526-14664539
23	POU2F2	chr5:14663861-14665039	GM12878	blood:	n/a	n/a
24	MYC	chr5:14664345-14665021	MCF10A-Er-Src	breast:	n/a	n/a
25	SP1	chr5:14664193-14665012	A549	lung:	n/a	chr5:14664782-14664791
26	CREB1	chr5:14664162-14665117	HepG2	liver:	n/a	n/a
27	ARID3A	chr5:14664457-14664978	HepG2	liver:	n/a	n/a
28	GABPA	chr5:14664193-14665024	MCF-7	breast:	n/a	chr5:14664715-14664724 chr5:14664717-14664726 chr5:14664715-14664726 chr5:14664645-14664659 chr5:14664715-14664729 chr5:14664712-14664726
29	CREB1	chr5:14664199-14664994	H1-hESC	embryonic stem cell:	n/a	n/a
30	GTF2F1	chr5:14663903-14664902	Hela-S3	cervix:	n/a	n/a
31	E2F6	chr5:14664016-14665488	Hela-S3	cervix:	n/a	chr5:14664571-14664582 chr5:14664572-14664584 chr5:14664573-14664580 chr5:14664716-14664725 chr5:14664682-14664692 chr5:14664573-14664580 chr5:14664573-14664580 chr5:14665460-14665470
32	TEAD4	chr5:14663890-14665029	K562	blood:	n/a	n/a
33	MXI1	chr5:14664245-14665000	Hela-S3	cervix:	n/a	n/a
34	CREB1	chr5:14664222-14665165	HepG2	liver:	n/a	n/a
35	POLR2A	chr5:14664200-14665246	ProgFib	skin:	n/a	n/a
36	POLR2A	chr5:14663959-14665646	GM12878	blood:	n/a	n/a
37	ATF3	chr5:14664343-14664885	K562	blood:	n/a	chr5:14664784-14664804
38	POLR2A	chr5:14664271-14665127	A549	lung:	n/a	n/a
39	ELF1	chr5:14664425-14665031	K562	blood:	n/a	chr5:14664803-14664812 chr5:14664527-14664538
40	E2F6	chr5:14663881-14665098	A549	lung:	n/a	chr5:14664571-14664582 chr5:14664572-14664584 chr5:14664573-14664580 chr5:14664716-14664725 chr5:14664682-14664692 chr5:14664573-14664580 chr5:14664573-14664580
41	POLR2A	chr5:14663914-14665132	GM12878	blood:	n/a	n/a
42	E2F6	chr5:14664292-14664875	K562	blood:	n/a	chr5:14664571-14664582 chr5:14664572-14664584 chr5:14664573-14664580 chr5:14664716-14664725 chr5:14664682-14664692 chr5:14664573-14664580 chr5:14664573-14664580
43	POLR2A	chr5:14663951-14665640	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr5:14664262-14665061	HL-60	blood:	n/a	n/a
45	POLR2A	chr5:14664228-14665084	ECC-1	luminal epithelium:	n/a	n/a
46	POLR2A	chr5:14664211-14666290	MCF10A-Er-Src	breast:	n/a	n/a
47	EP300	chr5:14664177-14664994	K562	blood:	n/a	chr5:14664527-14664536 chr5:14664657-14664673
48	TCF7L2	chr5:14664001-14664970	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr5:14664318-14665167	A549	lung:	n/a	n/a
50	ZMIZ1	chr5:14664447-14665023	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:14664470-14664520	CMK	blood:	n/a
2	chr5:14664470-14664520	HEEpiC	esophagus:	n/a
3	chr5:14664470-14664520	NH-A	brain:	n/a
4	chr5:14664470-14664520	ProgFib	skin:	n/a
5	chr5:14664470-14664520	SK-N-SH_RA	brain:	n/a
6	chr5:14664470-14664520	HepG2	liver:	n/a
7	chr5:14664470-14664520	ovcar-3	ovarian:	n/a
8	chr5:14664470-14664520	NB4	blood:	n/a
9	chr5:14664470-14664520	HPAEpiC	pulmonary alveolar:	n/a
10	chr5:14664470-14664520	PFSK-1	brain:	n/a
11	chr5:14664470-14664520	K562	blood:	n/a
12	chr5:14664470-14664520	GM19239	blood:	n/a
13	chr5:14664470-14664520	Caco-2	colon:	n/a
14	chr5:14664470-14664520	GM06990	blood:	n/a
15	chr5:14664470-14664520	AG04449	skin:	fetal
16	chr5:14664470-14664520	HUVEC	blood vessel:	n/a
17	chr5:14664470-14664520	MCF10A-Er-Src	breast:	n/a
18	chr5:14664470-14664520	AoSMC	blood vessel:	n/a
19	chr5:14664470-14664520	H1-hESC	embryonic stem cell:	embryo
20	chr5:14664470-14664520	HCT-116	colon:	n/a
21	chr5:14664470-14664520	ECC-1	luminal epithelium:	n/a
22	chr5:14664470-14664520	A549	lung:	n/a
23	chr5:14664470-14664520	U87	brain:	n/a
24	chr5:14664470-14664520	SK-N-MC	brain:	n/a
25	chr5:14664470-14664520	LNCaP	prostate:	n/a
26	chr5:14664470-14664520	HAEpiC	amniotic membrane:	n/a
27	chr5:14664470-14664520	HCM	heart:	n/a
28	chr5:14664470-14664520	NHBE	bronchial:	n/a
29	chr5:14664470-14664520	Jurkat	blood:	n/a
30	chr5:14664470-14664520	BE2_C	brain:	n/a
31	chr5:14664470-14664520	GM12878	blood:	n/a
32	chr5:14664470-14664520	HCF	heart:	n/a
33	chr5:14664470-14664520	AG09319	gingival:	n/a
34	chr5:14664470-14664520	HCPEpiC	choroid plexus:	n/a
35	chr5:14664470-14664520	T-47D	breast:	n/a
36	chr5:14664470-14664520	PrEC	prostate:	n/a
37	chr5:14664470-14664520	NT2-D1	testis:	n/a
38	chr5:14664470-14664520	HRCEpiC	kidney:	n/a
39	chr5:14664470-14664520	NHDF-neo	bronchial:	n/a
40	chr5:14664470-14664520	AG09309	skin:	n/a
41	chr5:14664470-14664520	Hepatocyte	liver:	n/a
42	chr5:14664470-14664520	HL-60	blood:	n/a
43	chr5:14664470-14664520	HEK293	kidney:	embryo
44	chr5:14664470-14664520	SK-N-SH	brain:	n/a
45	chr5:14664470-14664520	GM12892	blood:	n/a
46	chr5:14664470-14664520	BJ	skin:	n/a
47	chr5:14664470-14664520	SAEC	small airway:	n/a
48	chr5:14664470-14664520	AG10803	skin:	n/a
49	chr5:14664470-14664520	Hela-S3	cervix:	n/a
50	chr5:14664470-14664520	GM12891	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:14143682..14146659-chr5:14664431..14666395,2	MCF-7	breast:
2	chr3:120314958..120315682-chr5:14664161..14664669,2	Hela-S3	cervix:
3	chr17:1620010..1621019-chr5:14664271..14665202,3	Hela-S3	cervix:
4	chr17:62222968..62223765-chr5:14664311..14665257,2	Hela-S3	cervix:
5	chr5:14497930..14500445-chr5:14662848..14665215,2	MCF-7	breast:
6	chr5:14663431..14670152-chr5:14672054..14680588,17	K562	blood:
7	chr5:14663911..14666053-chr5:14679468..14682192,2	MCF-7	breast:
8	chr12:121837283..121837955-chr5:14664313..14665299,2	Hela-S3	cervix:
9	chr19:9938591..9939096-chr5:14664436..14665121,2	Hela-S3	cervix:
10	chr16:56484857..56485398-chr5:14664111..14664803,2	Hela-S3	cervix:
11	chr15:65588332..65589080-chr5:14664136..14664865,2	Hela-S3	cervix:
12	chr1:147806219..147807143-chr5:14664370..14664996,2	Hela-S3	cervix:
13	chr5:14664160..14664958-chr5:82372800..82373613,2	Hela-S3	cervix:
14	chr11:65190115..65190731-chr5:14664107..14664931,2	Hela-S3	cervix:
15	chr19:39935648..39936578-chr5:14664034..14664744,2	Hela-S3	cervix:
16	chr2:75937399..75938318-chr5:14664189..14665128,2	Hela-S3	cervix:
17	chr11:124543288..124543836-chr5:14664268..14664773,2	Hela-S3	cervix:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANKH-1	chr5:14663208-14664704	NONHSAT100548

Variant related genes	Relation type
ENSG00000261360	TF binding region
FAM105B	TF binding region
FAM105B	CpG island
ENSG00000261360	CpG island
ENSG00000170633	Chromatin interaction
ENSG00000110013	Chromatin interaction
ENSG00000245532	Chromatin interaction
ENSG00000196235	Chromatin interaction
ENSG00000154124	Chromatin interaction
ENSG00000199568	Chromatin interaction
ENSG00000186594	Chromatin interaction
ENSG00000202408	Chromatin interaction
ENSG00000064199	Chromatin interaction
ENSG00000198258	Chromatin interaction
ENSG00000199753	Chromatin interaction
ENSG00000174695	Chromatin interaction
ENSG00000038382	Chromatin interaction
ENSG00000065518	Chromatin interaction
ENSG00000167005	Chromatin interaction
ENSG00000152422	Chromatin interaction
ENSG00000266402	Chromatin interaction
ENSG00000089053	Chromatin interaction
ENSG00000005436	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv830211	chr5:14474675-14675776	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1032951	chr5:14529579-14667342	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv597254	chr5:14661675-14664951	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	esv17082	chr5:14664452-14665082	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 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	chr5:14663400-14665600	Active TSS	Duodenum Smooth Muscle	Duodenum
2	chr5:14663400-14665800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:14663400-14665800	Active TSS	A549	lung
4	chr5:14663600-14664600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr5:14663600-14664600	Flanking Active TSS	Primary B cells from cord blood	blood
6	chr5:14663600-14664600	Flanking Active TSS	Primary hematopoietic stem cells	blood
7	chr5:14663600-14664600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr5:14663600-14664600	Flanking Active TSS	Hela-S3	cervix
9	chr5:14663600-14665200	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr5:14663600-14665400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:14663600-14665600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr5:14663600-14666000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr5:14663600-14666000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr5:14663600-14666000	Active TSS	NHLF	lung
15	chr5:14663600-14666200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
16	chr5:14663600-14666200	Active TSS	GM12878-XiMat	blood
17	chr5:14663800-14664600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr5:14663800-14664600	Flanking Active TSS	Fetal Brain Male	brain
19	chr5:14663800-14664600	Flanking Active TSS	Fetal Muscle Trunk	muscle
20	chr5:14663800-14665200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
21	chr5:14663800-14665400	Active TSS	Fetal Lung	lung
22	chr5:14663800-14665600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr5:14663800-14665600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr5:14663800-14665600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
25	chr5:14663800-14665600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
26	chr5:14663800-14665800	Active TSS	H9 Cell Line	embryonic stem cell
27	chr5:14663800-14665800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr5:14663800-14665800	Active TSS	Brain Inferior Temporal Lobe	brain
29	chr5:14663800-14665800	Active TSS	Colon Smooth Muscle	Colon
30	chr5:14663800-14665800	Active TSS	Esophagus	oesophagus
31	chr5:14663800-14665800	Active TSS	Sigmoid Colon	Sigmoid Colon
32	chr5:14663800-14665800	Active TSS	Small Intestine	intestine
33	chr5:14663800-14665800	Active TSS	Stomach Mucosa	stomach
34	chr5:14663800-14665800	Active TSS	HSMMtube	muscle
35	chr5:14663800-14666000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
36	chr5:14663800-14666000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr5:14663800-14666000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr5:14663800-14666000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr5:14663800-14666000	Active TSS	Colonic Mucosa	Colon
40	chr5:14663800-14666000	Active TSS	Left Ventricle	heart
41	chr5:14663800-14666000	Active TSS	Psoas Muscle	Psoas
42	chr5:14663800-14666000	Active TSS	NHDF-Ad	bronchial
43	chr5:14663800-14666200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr5:14663800-14666200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr5:14663800-14666200	Active TSS	Aorta	Aorta
46	chr5:14663800-14666200	Active TSS	Lung	lung
47	chr5:14663800-14666200	Active TSS	Ovary	ovary
48	chr5:14663800-14666200	Active TSS	HMEC	breast
49	chr5:14663800-14666600	Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr5:14664000-14665000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--

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