Variant report

Variant	rs10129944
Chromosome Location	chr14:55834581-55834582
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:55831903..55834657-chr14:55852806..55855439,2	MCF-7	breast:
2	chr14:55832794..55835676-chr14:55852395..55854057,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10133839	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs10134482	1.00[EUR][1000 genomes]
rs10134533	1.00[EUR][1000 genomes]
rs10138287	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10140700	1.00[EUR][1000 genomes]
rs17128286	1.00[EUR][1000 genomes]
rs17128299	1.00[EUR][1000 genomes]
rs17128411	1.00[TSI][hapmap];0.85[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17128493	1.00[EUR][1000 genomes]
rs17128496	1.00[EUR][1000 genomes]
rs28458773	1.00[EUR][1000 genomes]
rs28488729	1.00[EUR][1000 genomes]
rs28584735	1.00[EUR][1000 genomes]
rs34630492	1.00[EUR][1000 genomes]
rs60302297	1.00[EUR][1000 genomes]
rs60342915	1.00[EUR][1000 genomes]
rs61106193	1.00[EUR][1000 genomes]
rs73285833	1.00[EUR][1000 genomes]
rs8010658	1.00[MEX][hapmap]
rs8015485	1.00[EUR][1000 genomes]
rs9323281	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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	nsv1039438	chr14:55746585-55886099	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv901957	chr14:55819219-55853724	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv901958	chr14:55822095-56045411	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 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	chr14:55801200-55842800	Weak transcription	Fetal Brain Male	brain
2	chr14:55808800-55865200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:55813600-55837200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr14:55814400-55853200	Weak transcription	Right Atrium	heart
5	chr14:55816000-55837200	Weak transcription	K562	blood
6	chr14:55818000-55841800	Weak transcription	Hela-S3	cervix
7	chr14:55818200-55842800	Weak transcription	Brain Angular Gyrus	brain
8	chr14:55818200-55877600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr14:55818400-55858800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr14:55818800-55842600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr14:55819000-55835200	Weak transcription	NH-A	brain
12	chr14:55819200-55835400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr14:55819200-55836400	Weak transcription	Ovary	ovary
14	chr14:55819200-55842800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr14:55819400-55847800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr14:55819400-55850600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:55819400-55855200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr14:55819600-55835400	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr14:55819600-55836000	Weak transcription	Gastric	stomach
20	chr14:55819800-55834600	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr14:55819800-55835000	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr14:55819800-55835000	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr14:55819800-55842200	Weak transcription	HSMM	muscle
24	chr14:55820000-55834600	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr14:55821200-55842800	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr14:55821400-55835800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr14:55821400-55836200	Weak transcription	Small Intestine	intestine
28	chr14:55821400-55848800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr14:55821400-55849200	Weak transcription	Fetal Heart	heart
30	chr14:55821400-55865200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr14:55821800-55836000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr14:55821800-55836000	Weak transcription	Stomach Mucosa	stomach
33	chr14:55821800-55839800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr14:55821800-55840400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr14:55822200-55842800	Weak transcription	Brain Substantia Nigra	brain
36	chr14:55822800-55835400	Weak transcription	Right Ventricle	heart
37	chr14:55822800-55835600	Weak transcription	GM12878-XiMat	blood
38	chr14:55822800-55835800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr14:55822800-55836000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr14:55823000-55835200	Weak transcription	Fetal Brain Female	brain
41	chr14:55823200-55835200	Weak transcription	Duodenum Mucosa	Duodenum
42	chr14:55823200-55835800	Weak transcription	Spleen	Spleen
43	chr14:55823200-55840600	Weak transcription	NHEK	skin
44	chr14:55823200-55848400	Weak transcription	HMEC	breast
45	chr14:55823800-55836400	Weak transcription	Esophagus	oesophagus
46	chr14:55824000-55835200	Weak transcription	Placenta	Placenta
47	chr14:55824000-55848400	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr14:55824400-55834600	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr14:55828200-55837400	Strong transcription	Fetal Muscle Trunk	muscle
50	chr14:55828400-55836600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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