Variant report

Variant	rs1124644
Chromosome Location	chr14:24803956-24803957
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:122)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:24803858-24804539	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr14:24802594-24804686	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr14:24803569-24804526	HUVEC	blood vessel:	n/a	n/a
4	CTCF	chr14:24802603-24804394	SK-N-SH	brain:	n/a	chr14:24803292-24803305 chr14:24802991-24803007 chr14:24802993-24803006 chr14:24802995-24803005 chr14:24804354-24804367 chr14:24803037-24803046 chr14:24802990-24803008
5	POLR2A	chr14:24802615-24805178	HUVEC	blood vessel:	n/a	n/a
6	BACH1	chr14:24803932-24804345	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr14:24803946-24804506	HUVEC	blood vessel:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:24803925-24803975	IMR90	lung:	fetal
2	chr14:24803917-24803967	NT2-D1	testis:	n/a
3	chr14:24803925-24803975	AG10803	skin:	n/a
4	chr14:24803925-24803975	HRCEpiC	kidney:	n/a
5	chr14:24803917-24803967	HRCEpiC	kidney:	n/a
6	chr14:24803925-24803975	NB4	blood:	n/a
7	chr14:24803925-24803975	MCF10A-Er-Src	breast:	n/a
8	chr14:24803917-24803967	AG09319	gingival:	n/a
9	chr14:24803917-24803967	HCF	heart:	n/a
10	chr14:24803917-24803967	BE2_C	brain:	n/a
11	chr14:24803917-24803967	HCM	heart:	n/a
12	chr14:24803925-24803975	GM12878	blood:	n/a
13	chr14:24803925-24803975	LNCaP	prostate:	n/a
14	chr14:24803917-24803967	HEK293	kidney:	embryo
15	chr14:24803917-24803967	HAEpiC	amniotic membrane:	n/a
16	chr14:24803925-24803975	HIPEpiC	eye:	n/a
17	chr14:24803917-24803967	GM12878	blood:	n/a
18	chr14:24803925-24803975	SKMC	muscle:	n/a
19	chr14:24803925-24803975	AoSMC	blood vessel:	n/a
20	chr14:24803917-24803967	BJ	skin:	n/a
21	chr14:24803917-24803967	HCPEpiC	choroid plexus:	n/a
22	chr14:24803917-24803967	AG04450	lung:	fetal
23	chr14:24803917-24803967	NB4	blood:	n/a
24	chr14:24803925-24803975	GM12892	blood:	n/a
25	chr14:24803917-24803967	PFSK-1	brain:	n/a
26	chr14:24803917-24803967	Hepatocyte	liver:	n/a
27	chr14:24803925-24803975	PANC-1	pancreas:	n/a
28	chr14:24803917-24803967	ECC-1	luminal epithelium:	n/a
29	chr14:24803925-24803975	HCF	heart:	n/a
30	chr14:24803917-24803967	Caco-2	colon:	n/a
31	chr14:24803917-24803967	SK-N-SH_RA	brain:	n/a
32	chr14:24803917-24803967	NHBE	bronchial:	n/a
33	chr14:24803917-24803967	K562	blood:	n/a
34	chr14:24803925-24803975	PFSK-1	brain:	n/a
35	chr14:24803917-24803967	LNCaP	prostate:	n/a
36	chr14:24803925-24803975	HAEpiC	amniotic membrane:	n/a
37	chr14:24803917-24803967	AG10803	skin:	n/a
38	chr14:24803917-24803967	Hela-S3	cervix:	n/a
39	chr14:24803917-24803967	IMR90	lung:	fetal
40	chr14:24803925-24803975	HCT-116	colon:	n/a
41	chr14:24803925-24803975	AG04450	lung:	fetal
42	chr14:24803917-24803967	MCF-7	breast:	n/a
43	chr14:24803917-24803967	HMEC	breast:	n/a
44	chr14:24803925-24803975	HRPEpiC	eye:	n/a
45	chr14:24803925-24803975	Hepatocyte	liver:	n/a
46	chr14:24803917-24803967	AoSMC	blood vessel:	n/a
47	chr14:24803925-24803975	HepG2	liver:	n/a
48	chr14:24803925-24803975	K562	blood:	n/a
49	chr14:24803917-24803967	GM12892	blood:	n/a
50	chr14:24803917-24803967	HPAEpiC	pulmonary alveolar:	n/a

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:24802266..24804821-chr14:24805922..24808045,3	K562	blood:
2	chr14:24796879..24804920-chr14:24831628..24840088,12	MCF-7	breast:
3	chr14:24789439..24822082-chr14:24898039..24913135,99	MCF-7	breast:
4	chr14:24709884..24713728-chr14:24799730..24804763,6	MCF-7	breast:
5	chr14:24791358..24808812-chr14:24895309..24913599,55	K562	blood:
6	chr14:24803661..24805578-chr14:24807953..24810050,2	K562	blood:
7	chr14:24781460..24810019-chr14:24892340..24914262,110	MCF-7	breast:
8	chr14:24801703..24804412-chr14:24880486..24883068,2	MCF-7	breast:
9	chr14:24800598..24804207-chr14:24909756..24912911,5	K562	blood:
10	chr14:24800528..24803981-chr14:24898784..24901810,5	K562	blood:

No data

Variant related genes	Relation type
ADCY4	TF binding region
ADCY4	CpG island
ENSG00000100441	Chromatin interaction
ENSG00000100968	Chromatin interaction
ENSG00000139899	Chromatin interaction
ENSG00000258973	Chromatin interaction
ENSG00000100445	Chromatin interaction
ENSG00000129465	Chromatin interaction
ENSG00000092330	Chromatin interaction
ENSG00000205978	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10483285	0.90[CHB][hapmap];0.86[CHD][hapmap]
rs17102976	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs2144490	0.83[MKK][hapmap]
rs3212241	0.80[ASN][1000 genomes]
rs3212245	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs3212254	1.00[CHB][hapmap];0.93[CHD][hapmap]
rs954134	0.90[MEX][hapmap]

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	nsv1041336	chr14:24726564-25527319	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542000	chr14:24726564-25527319	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv564060	chr14:24776401-24809795	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24801200-24804800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr14:24801400-24804600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr14:24801800-24804000	Bivalent Enhancer	Fetal Thymus	thymus
4	chr14:24801800-24804400	Bivalent Enhancer	Fetal Lung	lung
5	chr14:24801800-24804600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
6	chr14:24801800-24805400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
7	chr14:24802000-24804200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
8	chr14:24802000-24804400	Active TSS	Osteobl	bone
9	chr14:24802200-24804600	Active TSS	Right Atrium	heart
10	chr14:24802400-24804000	Bivalent Enhancer	Brain Germinal Matrix	brain
11	chr14:24802400-24804400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr14:24802600-24804200	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
13	chr14:24802600-24804400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
14	chr14:24802600-24804600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr14:24802800-24804000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
16	chr14:24802800-24804000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr14:24802800-24804200	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
18	chr14:24802800-24804200	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
19	chr14:24802800-24804200	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
20	chr14:24802800-24804200	Active TSS	NHDF-Ad	bronchial
21	chr14:24802800-24804400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr14:24802800-24804400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr14:24802800-24804400	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr14:24802800-24804600	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
25	chr14:24802800-24804800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr14:24802800-24804800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
27	chr14:24802800-24805000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
28	chr14:24802800-24805200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
29	chr14:24803000-24804200	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
30	chr14:24803000-24804200	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
31	chr14:24803000-24804400	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
32	chr14:24803000-24804400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr14:24803000-24804400	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
34	chr14:24803000-24804400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
35	chr14:24803000-24804400	Bivalent/Poised TSS	HSMM	muscle
36	chr14:24803000-24804600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
37	chr14:24803000-24804600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
38	chr14:24803000-24804600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
39	chr14:24803000-24804600	Active TSS	Ovary	ovary
40	chr14:24803000-24804800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
41	chr14:24803000-24804800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
42	chr14:24803000-24804800	Bivalent/Poised TSS	Brain Anterior Caudate	brain
43	chr14:24803000-24804800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
44	chr14:24803000-24805400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr14:24803200-24804000	Flanking Active TSS	Placenta	Placenta
46	chr14:24803200-24804200	Bivalent Enhancer	Fetal Brain Male	brain
47	chr14:24803200-24804400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr14:24803200-24804400	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
49	chr14:24803200-24804400	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
50	chr14:24803200-24804600	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine

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