Variant report

Variant	rs1957947
Chromosome Location	chr14:65554890-65554891
allele	A/G
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	CBX3	chr14:65554526-65554967	K562	blood:	n/a	n/a
2	KAP1	chr14:65554664-65555120	K562	blood:	n/a	n/a
3	SETDB1	chr14:65554526-65555012	U2OS	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:65544834..65549029-chr14:65550819..65555965,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259118	TF binding region
ENSG00000259118	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10130037	0.86[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs10142987	0.81[AFR][1000 genomes]
rs11626796	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12101257	0.98[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs1256415	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1256416	0.89[EUR][1000 genomes]
rs12588412	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12590701	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1262269	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12895232	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1953230	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1953231	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2277500	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2781371	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28648456	0.82[AFR][1000 genomes]
rs7151350	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7152879	0.85[ASN][1000 genomes]
rs945013	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs945014	0.89[ASN][1000 genomes]

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	nsv832816	chr14:65473244-65644645	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 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	chr14:65528800-65555400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:65538800-65562000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr14:65539000-65562400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr14:65539600-65563200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr14:65545400-65563000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr14:65546200-65562400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr14:65546400-65562400	Strong transcription	Placenta	Placenta
8	chr14:65548600-65561800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr14:65548800-65555000	Strong transcription	Primary B cells from peripheral blood	blood
10	chr14:65548800-65555400	Weak transcription	HMEC	breast
11	chr14:65548800-65562000	Strong transcription	Liver	Liver
12	chr14:65548800-65563200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr14:65548800-65564800	Strong transcription	HUVEC	blood vessel
14	chr14:65549000-65559000	Strong transcription	Duodenum Mucosa	Duodenum
15	chr14:65549600-65562400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr14:65549800-65555200	Strong transcription	Primary T cells from cord blood	blood
17	chr14:65549800-65558800	Weak transcription	Stomach Mucosa	stomach
18	chr14:65550000-65557400	Strong transcription	Rectal Mucosa Donor 31	rectum
19	chr14:65551000-65560400	Weak transcription	Right Atrium	heart
20	chr14:65551400-65560800	Strong transcription	Duodenum Smooth Muscle	Duodenum
21	chr14:65551600-65557200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr14:65551600-65557600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr14:65551800-65557000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
24	chr14:65552000-65556400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
25	chr14:65552000-65557000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr14:65552200-65555000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr14:65552200-65556200	ZNF genes & repeats	Fetal Intestine Small	intestine
28	chr14:65552200-65556400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
29	chr14:65552200-65556800	ZNF genes & repeats	GM12878-XiMat	blood
30	chr14:65552200-65561800	Strong transcription	Fetal Lung	lung
31	chr14:65552200-65562000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr14:65552400-65555400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr14:65552400-65556400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr14:65552400-65556400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr14:65552400-65556400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
36	chr14:65552400-65556400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
37	chr14:65552400-65557000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
38	chr14:65552400-65557000	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr14:65552400-65557200	Strong transcription	HepG2	liver
40	chr14:65552400-65557600	Strong transcription	HSMMtube	muscle
41	chr14:65552400-65560400	Strong transcription	Rectal Smooth Muscle	rectum
42	chr14:65552400-65560800	Strong transcription	Brain Substantia Nigra	brain
43	chr14:65552400-65560800	Strong transcription	Stomach Smooth Muscle	stomach
44	chr14:65552400-65561000	Strong transcription	Adipose Nuclei	Adipose
45	chr14:65552400-65561400	Strong transcription	Brain Hippocampus Middle	brain
46	chr14:65552600-65555000	Weak transcription	NHDF-Ad	bronchial
47	chr14:65552600-65556000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
48	chr14:65552600-65556400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr14:65552600-65556600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
50	chr14:65552600-65558000	Weak transcription	Fetal Heart	heart

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