Variant report

Variant	rs72717977
Chromosome Location	chr14:56684120-56684121
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:56583632..56587463-chr14:56682572..56685944,3	K562	blood:
2	chr14:56681835..56684539-chr14:56756557..56758766,2	K562	blood:
3	chr14:56682901..56685708-chr14:56814897..56818305,3	K562	blood:
4	chr14:56558435..56560127-chr14:56683877..56686792,2	K562	blood:
5	chr14:56660081..56671301-chr14:56679407..56688474,29	K562	blood:
6	chr14:56683693..56686050-chr14:56732906..56735340,3	K562	blood:
7	chr14:56682063..56684251-chr14:56724181..56726719,2	K562	blood:
8	chr14:56649381..56651090-chr14:56683984..56685910,2	K562	blood:
9	chr14:56682968..56684539-chr14:56757092..56758766,2	K562	blood:
10	chr14:56683808..56686742-chr14:56806746..56810669,4	K562	blood:
11	chr14:56606632..56608561-chr14:56682094..56685625,3	K562	blood:
12	chr14:56682950..56686816-chr14:56706117..56709663,3	K562	blood:
13	chr14:56646170..56649121-chr14:56682750..56684520,2	K562	blood:
14	chr14:56684044..56686281-chr14:56718525..56720474,2	K562	blood:
15	chr14:56266295..56268885-chr14:56682625..56685589,2	K562	blood:
16	chr14:56683722..56686050-chr14:56732906..56735340,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000139946	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10483657	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs171410	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17832621	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs242397	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs242399	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs242401	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs242403	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs242404	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs242405	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs242408	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs242409	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs242411	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs242412	0.94[ASN][1000 genomes]
rs242415	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs242416	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3783655	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3783673	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3783677	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3783682	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs3825619	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs55724547	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55764336	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56280775	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs56387985	0.86[ASN][1000 genomes]
rs57405940	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58069847	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs72714350	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72717992	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[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	nsv533129	chr14:56568535-56819234	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv1844788	chr14:56594420-56771207	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56662600-56693000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr14:56665400-56691600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr14:56673000-56694600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr14:56673400-56694600	Weak transcription	Primary B cells from cord blood	blood
5	chr14:56675000-56686800	Weak transcription	Aorta	Aorta
6	chr14:56675600-56686200	Weak transcription	Duodenum Mucosa	Duodenum
7	chr14:56677200-56685000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:56677400-56685200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr14:56678200-56686200	Weak transcription	Right Atrium	heart
10	chr14:56679000-56688800	Enhancers	Fetal Thymus	thymus
11	chr14:56679600-56686800	Weak transcription	Spleen	Spleen
12	chr14:56679800-56686800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr14:56681000-56685000	Enhancers	Thymus	Thymus
14	chr14:56681000-56686000	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr14:56681000-56686200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:56681000-56688800	Enhancers	Brain Germinal Matrix	brain
17	chr14:56681000-56689000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr14:56681200-56689600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr14:56681400-56684200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr14:56681400-56687200	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr14:56681600-56685400	Enhancers	Primary T cells from cord blood	blood
22	chr14:56681600-56687800	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr14:56682000-56689200	Enhancers	Primary hematopoietic stem cells	blood
24	chr14:56682000-56689800	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr14:56682200-56687800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr14:56682200-56688200	Enhancers	Brain Angular Gyrus	brain
27	chr14:56682200-56699200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr14:56682400-56684200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr14:56682400-56686800	Enhancers	Ovary	ovary
30	chr14:56682400-56686800	Enhancers	Rectal Smooth Muscle	rectum
31	chr14:56682600-56688200	Enhancers	Brain Substantia Nigra	brain
32	chr14:56682600-56688400	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr14:56682600-56688800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr14:56682800-56684200	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr14:56682800-56684600	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr14:56682800-56684800	Enhancers	Small Intestine	intestine
37	chr14:56682800-56685000	Enhancers	Fetal Muscle Leg	muscle
38	chr14:56682800-56686600	Enhancers	Brain Hippocampus Middle	brain
39	chr14:56682800-56688200	Enhancers	Colon Smooth Muscle	Colon
40	chr14:56682800-56688200	Enhancers	Fetal Brain Male	brain
41	chr14:56682800-56688400	Enhancers	Brain Anterior Caudate	brain
42	chr14:56682800-56688400	Enhancers	Brain Cingulate Gyrus	brain
43	chr14:56683000-56684200	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr14:56683000-56684400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr14:56683000-56685200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr14:56683000-56685400	Enhancers	Fetal Kidney	kidney
47	chr14:56683000-56685600	Enhancers	Fetal Heart	heart
48	chr14:56683000-56686400	Enhancers	K562	blood
49	chr14:56683000-56689600	Enhancers	Adipose Nuclei	Adipose
50	chr14:56683200-56684200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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