Variant report

Variant	rs1255955
Chromosome Location	chr14:64549024-64549025
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	chr14:64547416..64549627-chr14:64558968..64561021,2	MCF-7	breast:
2	chr14:64538983..64542739-chr14:64547728..64551234,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000054654	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10135588	0.88[EUR][1000 genomes]
rs10140978	1.00[CEU][hapmap];0.81[CHB][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10146667	1.00[CEU][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11622858	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1255948	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1255950	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1255951	1.00[CEU][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1255952	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1255960	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1255961	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1255964	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1255965	0.81[CHB][hapmap]
rs1255968	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1255973	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1262241	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12894671	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1890907	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1890908	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2153477	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2153478	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2781377	0.85[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes]
rs2781378	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4027405	1.00[JPT][hapmap]
rs6573544	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7146859	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7150982	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7153376	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7157993	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8007972	0.81[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs8018154	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915909	chr14:63620440-64560369	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv902019	chr14:64395569-64882380	Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv456326	chr14:64420413-64754361	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv564905	chr14:64420413-64754361	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64466600-64593200	Weak transcription	Colon Smooth Muscle	Colon
2	chr14:64481400-64574000	Weak transcription	Stomach Mucosa	stomach
3	chr14:64489400-64568600	Weak transcription	Small Intestine	intestine
4	chr14:64491200-64565200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr14:64519400-64592000	Weak transcription	Fetal Brain Male	brain
6	chr14:64525400-64566600	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr14:64526000-64552200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr14:64526800-64577000	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr14:64527600-64551800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr14:64527800-64552000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr14:64527800-64556600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:64528000-64557000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr14:64528000-64567400	Weak transcription	Fetal Heart	heart
14	chr14:64529000-64553200	Strong transcription	Dnd41	blood
15	chr14:64529400-64566800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr14:64536800-64552200	Strong transcription	Placenta	Placenta
17	chr14:64539600-64549400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr14:64539600-64552400	Weak transcription	Brain Anterior Caudate	brain
19	chr14:64541400-64549200	Weak transcription	Psoas Muscle	Psoas
20	chr14:64541600-64549200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr14:64542200-64557800	Weak transcription	HMEC	breast
22	chr14:64542600-64550600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr14:64542600-64552000	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr14:64542800-64549200	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr14:64542800-64556200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr14:64542800-64574000	Weak transcription	HUVEC	blood vessel
27	chr14:64542800-64575400	Weak transcription	Hela-S3	cervix
28	chr14:64543000-64576400	Weak transcription	NHDF-Ad	bronchial
29	chr14:64544000-64616200	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr14:64544200-64552400	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr14:64544400-64550400	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr14:64544600-64551800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr14:64545000-64550600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr14:64545000-64551600	Strong transcription	Primary B cells from cord blood	blood
35	chr14:64545200-64549200	Strong transcription	Left Ventricle	heart
36	chr14:64545200-64549800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr14:64545200-64550400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
38	chr14:64545200-64550400	Strong transcription	Duodenum Mucosa	Duodenum
39	chr14:64545200-64550400	Strong transcription	Fetal Muscle Leg	muscle
40	chr14:64545200-64550400	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr14:64545200-64550400	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr14:64545200-64552000	Strong transcription	Primary T cells from cord blood	blood
43	chr14:64545200-64552000	Strong transcription	Fetal Intestine Large	intestine
44	chr14:64545400-64549800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr14:64545400-64550400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr14:64545400-64550400	Strong transcription	Sigmoid Colon	Sigmoid Colon
47	chr14:64545400-64552000	Strong transcription	Fetal Stomach	stomach
48	chr14:64545600-64550200	Strong transcription	Adipose Nuclei	Adipose
49	chr14:64545800-64551800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr14:64546000-64550000	Strong transcription	Fetal Kidney	kidney

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