Variant report

Variant	rs4901543
Chromosome Location	chr14:55238871-55238872
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:55238847-55240190	MCF10A-Er-Src	breast:	n/a	n/a
2	JUN	chr14:55238373-55241145	K562	blood:	n/a	n/a
3	STAT3	chr14:55238847-55240432	MCF10A-Er-Src	breast:	n/a	chr14:55239328-55239337 chr14:55239329-55239338 chr14:55239636-55239648 chr14:55239409-55239420 chr14:55239327-55239338
4	STAT3	chr14:55238835-55240432	MCF10A-Er-Src	breast:	n/a	chr14:55239328-55239337 chr14:55239329-55239338 chr14:55239636-55239648 chr14:55239409-55239420 chr14:55239327-55239338

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:55220923..55225208-chr14:55233261..55241446,8	K562	blood:
2	chr14:55029820..55038276-chr14:55237466..55243367,18	K562	blood:
3	chr14:55237976..55239586-chr14:55367672..55369251,2	MCF-7	breast:
4	chr14:55179512..55182251-chr14:55238850..55240480,2	K562	blood:
5	chr14:55233041..55235092-chr14:55238068..55240119,2	MCF-7	breast:
6	chr14:55131231..55133350-chr14:55238338..55241273,2	K562	blood:
7	chr14:55118792..55121300-chr14:55238690..55241615,2	MCF-7	breast:
8	chr14:55029820..55035664-chr14:55234750..55242867,15	K562	blood:
9	chr14:55030996..55036222-chr14:55238607..55244336,16	MCF-7	breast:
10	chr14:55234866..55237900-chr14:55238411..55240727,3	K562	blood:
11	chr14:55237445..55239866-chr14:55271701..55273428,2	K562	blood:
12	chr14:55235323..55237263-chr14:55237473..55239035,2	MCF-7	breast:
13	chr14:55030476..55035831-chr14:55237622..55244655,19	MCF-7	breast:
14	chr14:55222236..55224976-chr14:55238757..55241397,2	K562	blood:
15	chr14:55201940..55205634-chr14:55237647..55241617,3	MCF-7	breast:
16	chr14:55040447..55042077-chr14:55237901..55240694,2	K562	blood:
17	chr14:55196610..55198817-chr14:55236965..55239044,2	K562	blood:
18	chr14:55238492..55240142-chr14:55247225..55249555,2	K562	blood:
19	chr14:55039042..55042077-chr14:55236554..55240895,3	K562	blood:

No data

Variant related genes	Relation type
SAMD4A	TF binding region
ENSG00000020577	Chromatin interaction
ENSG00000131979	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2181048	1.00[CEU][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2281651	0.91[CEU][hapmap]
rs4898853	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7158665	1.00[YRI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530042	chr14:55208170-55386966	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55165800-55239200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:55202800-55239800	Weak transcription	Brain Angular Gyrus	brain
3	chr14:55216800-55239800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr14:55217800-55239600	Weak transcription	Fetal Lung	lung
5	chr14:55219600-55239200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr14:55220600-55240200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr14:55222400-55240200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr14:55224600-55239000	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr14:55225200-55239800	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr14:55225200-55240200	Weak transcription	Esophagus	oesophagus
11	chr14:55226000-55239000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr14:55226400-55239200	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr14:55228200-55239800	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr14:55228800-55239200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr14:55229000-55240200	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr14:55229800-55239000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr14:55231000-55239800	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr14:55231000-55240200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr14:55231600-55239400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr14:55231800-55240200	Weak transcription	Ovary	ovary
21	chr14:55231800-55240400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr14:55231800-55245400	Weak transcription	Pancreas	Pancrea
23	chr14:55232000-55239000	Weak transcription	HMEC	breast
24	chr14:55232000-55239200	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr14:55233200-55239600	Weak transcription	Primary B cells from peripheral blood	blood
26	chr14:55233800-55239200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr14:55233800-55239800	Weak transcription	Spleen	Spleen
28	chr14:55234000-55239000	Weak transcription	Primary hematopoietic stem cells	blood
29	chr14:55234200-55239000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr14:55234200-55239000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr14:55234400-55239000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr14:55234400-55239200	Weak transcription	Brain Hippocampus Middle	brain
33	chr14:55234600-55240200	Weak transcription	Gastric	stomach
34	chr14:55235000-55239400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr14:55235200-55239000	Weak transcription	Brain Cingulate Gyrus	brain
36	chr14:55235200-55240400	Weak transcription	Colonic Mucosa	Colon
37	chr14:55235400-55239600	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr14:55235400-55239600	Weak transcription	Brain Anterior Caudate	brain
39	chr14:55235600-55239800	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr14:55235600-55240200	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr14:55236600-55241800	Enhancers	Placenta	Placenta
42	chr14:55236600-55245400	Genic enhancers	Fetal Muscle Leg	muscle
43	chr14:55236800-55239200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr14:55236800-55239600	Enhancers	Stomach Smooth Muscle	stomach
45	chr14:55237000-55241600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr14:55237200-55239800	Weak transcription	Brain Substantia Nigra	brain
47	chr14:55237200-55240200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr14:55237200-55240600	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr14:55237200-55242800	Weak transcription	Fetal Brain Female	brain
50	chr14:55237400-55239800	Enhancers	Skeletal Muscle Male	skeletal muscle

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