Variant report

Variant	rs11949983
Chromosome Location	chr5:43043388-43043389
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:442)
CpG islands
(count:61)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:442 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POU2F2	chr5:43043059-43043595	GM12878	blood:	n/a	n/a
2	CTCF	chr5:43043164-43043644	MCF-7	breast:	n/a	n/a
3	PML	chr5:43039608-43043658	K562	blood:	n/a	n/a
4	TAF1	chr5:43043230-43043527	GM12891	blood:	n/a	n/a
5	RAD21	chr5:43043169-43043579	A549	lung:	n/a	n/a
6	MAZ	chr5:43041937-43043565	GM12878	blood:	n/a	n/a
7	POLR2A	chr5:43041496-43043636	GM12892	blood:	n/a	n/a
8	CTCF	chr5:43043300-43043450	SK-N-SH_RA	brain:	n/a	n/a
9	TAF1	chr5:43043166-43043514	K562	blood:	n/a	n/a
10	POLR2A	chr5:43043315-43043506	HUVEC	blood vessel:	n/a	n/a
11	ELF1	chr5:43041586-43043588	GM12878	blood:	n/a	chr5:43042178-43042187
12	YY1	chr5:43043145-43043627	GM12878	blood:	n/a	n/a
13	CTCF	chr5:43043280-43043430	NHEK	skin:	n/a	n/a
14	POLR2A	chr5:43040129-43043584	Hela-S3	cervix:	n/a	n/a
15	CTCF	chr5:43043240-43043390	GM12872	blood:	n/a	n/a
16	CEBPB	chr5:43043267-43043417	HepG2	liver:	n/a	chr5:43043277-43043288
17	SIN3AK20	chr5:43042950-43043647	PANC-1	pancreas:	n/a	n/a
18	POLR2A	chr5:43039510-43043640	K562	blood:	n/a	n/a
19	POLR2A	chr5:43039532-43043686	PBDE	blood:	n/a	n/a
20	RFX5	chr5:43043345-43043570	HepG2	liver:	n/a	n/a
21	E2F6	chr5:43041629-43043704	A549	lung:	n/a	chr5:43042146-43042154 chr5:43042147-43042154 chr5:43042147-43042154 chr5:43042146-43042155 chr5:43042146-43042154 chr5:43042147-43042154
22	ATF2	chr5:43042371-43043414	GM12878	blood:	n/a	n/a
23	CTCF	chr5:43043260-43043410	HCPEpiC	choroid plexus:	n/a	n/a
24	MAX	chr5:43042515-43043560	K562	blood:	n/a	n/a
25	NR2F2	chr5:43042318-43043774	K562	blood:	n/a	n/a
26	RAD21	chr5:43043215-43043481	K562	blood:	n/a	n/a
27	TEAD4	chr5:43041373-43043661	K562	blood:	n/a	n/a
28	CTCF	chr5:43043300-43043450	AG09319	gingival:	n/a	n/a
29	POLR2A	chr5:43041729-43043587	K562	blood:	n/a	n/a
30	MAX	chr5:43041632-43043673	SK-N-SH	brain:	n/a	n/a
31	CTCF	chr5:43043260-43043516	GM12891	blood:	n/a	n/a
32	CHD1	chr5:43041913-43043636	GM12878	blood:	n/a	n/a
33	TBP	chr5:43039536-43043625	K562	blood:	n/a	n/a
34	POLR2A	chr5:43043124-43043632	MCF-7	breast:	n/a	n/a
35	CTCF	chr5:43043311-43043472	Gliobla	brain:	n/a	n/a
36	CTCF	chr5:43043294-43043492	Fibrobl	skin:	n/a	n/a
37	REST	chr5:43042468-43043621	A549	lung:	n/a	n/a
38	CTCF	chr5:43043320-43043470	HRE	kidney:	n/a	n/a
39	GABPA	chr5:43043089-43043691	K562	blood:	n/a	n/a
40	MYC	chr5:43043291-43043509	MCF-7	breast:	n/a	n/a
41	TAF1	chr5:43043138-43043542	GM12878	blood:	n/a	n/a
42	POLR2A	chr5:43043067-43043504	A549	lung:	n/a	n/a
43	GTF2B	chr5:43043023-43043542	K562	blood:	n/a	n/a
44	STAT1	chr5:43039520-43043515	Hela-S3	cervix:	n/a	chr5:43040479-43040488 chr5:43040473-43040493 chr5:43040476-43040490 chr5:43042111-43042122 chr5:43040478-43040487 chr5:43040479-43040487 chr5:43040477-43040488 chr5:43040473-43040493 chr5:43040377-43040388
45	BCL3	chr5:43042378-43043480	A549	lung:	n/a	n/a
46	EP300	chr5:43041716-43043549	GM12878	blood:	n/a	chr5:43042181-43042190 chr5:43042183-43042192 chr5:43042178-43042187 chr5:43042180-43042189
47	ETS1	chr5:43043184-43043539	K562	blood:	n/a	n/a
48	CTCF	chr5:43043266-43043500	MCF-7	breast:	n/a	n/a
49	TCF12	chr5:43043129-43043551	GM12878	blood:	n/a	n/a
50	CTCF	chr5:43043260-43043410	HMEC	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:43043360-43043410	AG09319	gingival:	n/a
2	chr5:43043360-43043410	PANC-1	pancreas:	n/a
3	chr5:43043360-43043410	AoSMC	blood vessel:	n/a
4	chr5:43043360-43043410	SK-N-SH	brain:	n/a
5	chr5:43043360-43043410	ovcar-3	ovarian:	n/a
6	chr5:43043360-43043410	ECC-1	luminal epithelium:	n/a
7	chr5:43043360-43043410	LNCaP	prostate:	n/a
8	chr5:43043360-43043410	T-47D	breast:	n/a
9	chr5:43043360-43043410	NHBE	bronchial:	n/a
10	chr5:43043360-43043410	PrEC	prostate:	n/a
11	chr5:43043360-43043410	HCT-116	colon:	n/a
12	chr5:43043360-43043410	MCF10A-Er-Src	breast:	n/a
13	chr5:43043360-43043410	Caco-2	colon:	n/a
14	chr5:43043360-43043410	NH-A	brain:	n/a
15	chr5:43043360-43043410	A549	lung:	n/a
16	chr5:43043360-43043410	AG04450	lung:	fetal
17	chr5:43043360-43043410	AG04449	skin:	fetal
18	chr5:43043360-43043410	HMEC	breast:	n/a
19	chr5:43043360-43043410	NHDF-neo	bronchial:	n/a
20	chr5:43043360-43043410	BE2_C	brain:	n/a
21	chr5:43043360-43043410	GM12891	blood:	n/a
22	chr5:43043360-43043410	GM06990	blood:	n/a
23	chr5:43043360-43043410	GM12892	blood:	n/a
24	chr5:43043360-43043410	HRE	kidney:	n/a
25	chr5:43043360-43043410	HIPEpiC	eye:	n/a
26	chr5:43043360-43043410	GM19239	blood:	n/a
27	chr5:43043360-43043410	HRPEpiC	eye:	n/a
28	chr5:43043360-43043410	HL-60	blood:	n/a
29	chr5:43043360-43043410	SAEC	small airway:	n/a
30	chr5:43043360-43043410	BJ	skin:	n/a
31	chr5:43043360-43043410	U87	brain:	n/a
32	chr5:43043360-43043410	Hepatocyte	liver:	n/a
33	chr5:43043360-43043410	RPTEC	kidney:	n/a
34	chr5:43043360-43043410	SKMC	muscle:	n/a
35	chr5:43043360-43043410	HCPEpiC	choroid plexus:	n/a
36	chr5:43043360-43043410	HEK293	kidney:	embryo
37	chr5:43043360-43043410	HCM	heart:	n/a
38	chr5:43043360-43043410	IMR90	lung:	fetal
39	chr5:43043360-43043410	ProgFib	skin:	n/a
40	chr5:43043360-43043410	HPAEpiC	pulmonary alveolar:	n/a
41	chr5:43043360-43043410	H1-hESC	embryonic stem cell:	embryo
42	chr5:43043360-43043410	HRCEpiC	kidney:	n/a
43	chr5:43043360-43043410	Jurkat	blood:	n/a
44	chr5:43043360-43043410	PFSK-1	brain:	n/a
45	chr5:43043360-43043410	HepG2	liver:	n/a
46	chr5:43043360-43043410	AG10803	skin:	n/a
47	chr5:43043360-43043410	NT2-D1	testis:	n/a
48	chr5:43043360-43043410	MCF-7	breast:	n/a
49	chr5:43043360-43043410	HAEpiC	amniotic membrane:	n/a
50	chr5:43043360-43043410	HUVEC	blood vessel:	n/a

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:145438010..145439003-chr5:43043227..43043821,2	NB4	blood:
2	chr5:43005892..43011349-chr5:43037590..43043804,20	K562	blood:
3	chr5:43016691..43021968-chr5:43036071..43044426,17	MCF-7	breast:
4	chr5:43014739..43026335-chr5:43034830..43045515,33	MCF-7	breast:
5	chr5:43007547..43009866-chr5:43041551..43043821,3	MCF-7	breast:
6	chr5:43034726..43053192-chr5:43061725..43074206,66	K562	blood:
7	chr5:43036901..43050217-chr5:43060442..43069391,53	MCF-7	breast:
8	chr5:43040123..43044169-chr5:43120216..43122879,6	K562	blood:
9	chr5:43037720..43044659-chr5:43062293..43069444,31	K562	blood:
10	chr5:43041491..43043698-chr5:43120008..43122438,3	MCF-7	breast:
11	chr5:43038662..43048059-chr5:43059399..43070773,40	MCF-7	breast:
12	chr5:43040708..43045055-chr5:43119670..43122847,6	K562	blood:
13	chr5:43041481..43043742-chr5:43120386..43122867,3	MCF-7	breast:

No data

Variant related genes	Relation type
ANXA2R	TF binding region
ANXA2R	CpG island
ENSG00000172262	Chromatin interaction
ENSG00000272144	Chromatin interaction
ENSG00000251131	Chromatin interaction
ENSG00000117289	Chromatin interaction
ENSG00000271788	Chromatin interaction
ENSG00000177738	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10060246	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs10061214	0.88[AFR][1000 genomes]
rs10067238	0.88[AFR][1000 genomes]
rs10076685	1.00[AFR][1000 genomes]
rs13353916	1.00[AFR][1000 genomes]
rs28610332	0.80[AFR][1000 genomes]
rs28638050	0.80[AFR][1000 genomes]
rs28855148	0.81[AFR][1000 genomes]
rs2910763	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv993554	chr5:42720939-43251863	Bivalent/Poised TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	298 gene(s)	inside rSNPs	diseases
2	nsv462126	chr5:42728831-43237188	Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
3	nsv597925	chr5:42728831-43237188	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
4	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
5	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
6	nsv534185	chr5:42804840-43067088	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	165 gene(s)	inside rSNPs	diseases
7	nsv1029288	chr5:42928085-43047323	Flanking Bivalent TSS/Enh Active TSS Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	120 gene(s)	inside rSNPs	diseases
8	nsv968169	chr5:42956713-43043472	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	116 gene(s)	inside rSNPs	diseases
9	nsv1024636	chr5:42959979-43295782	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
10	nsv537739	chr5:42959979-43295782	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
11	esv3357318	chr5:43042995-43045168	Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr5:43036800-43043800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr5:43037400-43045000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr5:43037800-43043400	Active TSS	Right Atrium	heart
4	chr5:43038000-43043600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
5	chr5:43038800-43043600	Active TSS	A549	lung
6	chr5:43039000-43043600	Active TSS	Psoas Muscle	Psoas
7	chr5:43039000-43043800	Active TSS	Thymus	Thymus
8	chr5:43039000-43043800	Active TSS	NHDF-Ad	bronchial
9	chr5:43039400-43043600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
10	chr5:43039400-43043600	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
11	chr5:43039400-43043800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:43039400-43044800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr5:43039600-43043400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
14	chr5:43039600-43043400	Bivalent/Poised TSS	Brain Angular Gyrus	brain
15	chr5:43039600-43043600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr5:43039600-43043600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
17	chr5:43039600-43043800	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
18	chr5:43039800-43043600	Active TSS	Brain Substantia Nigra	brain
19	chr5:43039800-43043800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
20	chr5:43039800-43044400	Active TSS	NHLF	lung
21	chr5:43039800-43044800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr5:43040000-43043400	Active TSS	Esophagus	oesophagus
23	chr5:43040000-43043600	Active TSS	Aorta	Aorta
24	chr5:43040000-43045000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr5:43040200-43043400	Active TSS	Lung	lung
26	chr5:43040200-43043600	Active TSS	Brain Hippocampus Middle	brain
27	chr5:43040400-43043800	Active TSS	Rectal Mucosa Donor 31	rectum
28	chr5:43040400-43045000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr5:43040600-43043600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr5:43040800-43043600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
31	chr5:43040800-43043600	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
32	chr5:43040800-43043600	Active TSS	Ovary	ovary
33	chr5:43040800-43043800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr5:43041000-43043600	Active TSS	Brain Cingulate Gyrus	brain
35	chr5:43041000-43043800	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr5:43041400-43043600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
37	chr5:43041400-43043800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
38	chr5:43041600-43043400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr5:43041600-43043600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr5:43041600-43043600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
41	chr5:43041600-43043600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
42	chr5:43041600-43043600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr5:43041600-43043600	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
44	chr5:43041600-43043600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
45	chr5:43041600-43043600	Flanking Active TSS	HUVEC	blood vessel
46	chr5:43041600-43043800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
47	chr5:43041800-43043400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr5:43041800-43043400	Active TSS	Gastric	stomach
49	chr5:43041800-43043600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
50	chr5:43041800-43043600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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