Variant report

Variant	rs1255989
Chromosome Location	chr14:64658226-64658227
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	chr14:64657632..64659971-chr14:64682618..64684745,2	MCF-7	breast:
2	chr14:64657113..64659774-chr14:64664998..64667785,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1152596	0.85[JPT][hapmap]
rs1152597	1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1152598	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1152600	1.00[CEU][hapmap];0.84[CHB][hapmap];0.90[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1255980	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1255981	1.00[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1255982	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1255983	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1255985	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1255993	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1255994	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1255996	1.00[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1266926	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1271028	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[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	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
2	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
3	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
4	nsv902021	chr14:64647646-64715794	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64600600-64667400	Weak transcription	Stomach Mucosa	stomach
2	chr14:64627200-64660400	Weak transcription	Fetal Heart	heart
3	chr14:64636400-64658400	Weak transcription	HMEC	breast
4	chr14:64636800-64662600	Weak transcription	Psoas Muscle	Psoas
5	chr14:64637400-64663600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr14:64640000-64663400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr14:64644600-64658800	Weak transcription	NHLF	lung
8	chr14:64645200-64661000	Weak transcription	Primary B cells from cord blood	blood
9	chr14:64645800-64661400	Weak transcription	Small Intestine	intestine
10	chr14:64645800-64663600	Weak transcription	Colonic Mucosa	Colon
11	chr14:64650400-64660000	Strong transcription	Aorta	Aorta
12	chr14:64650400-64660000	Strong transcription	Duodenum Mucosa	Duodenum
13	chr14:64650400-64660200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr14:64650400-64660600	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr14:64650800-64659800	Strong transcription	Left Ventricle	heart
16	chr14:64650800-64661400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr14:64650800-64661600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr14:64650800-64663200	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr14:64650800-64671800	Strong transcription	Liver	Liver
20	chr14:64651000-64660400	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr14:64651400-64659400	Weak transcription	Right Ventricle	heart
22	chr14:64651600-64662600	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr14:64651800-64661000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr14:64652000-64661400	Weak transcription	Fetal Kidney	kidney
25	chr14:64652000-64662800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr14:64652800-64659000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr14:64652800-64660000	Strong transcription	Rectal Mucosa Donor 31	rectum
28	chr14:64652800-64666200	Strong transcription	Dnd41	blood
29	chr14:64653000-64658600	Strong transcription	Lung	lung
30	chr14:64653000-64659800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr14:64653000-64660000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr14:64653000-64660000	Strong transcription	Fetal Muscle Trunk	muscle
33	chr14:64653000-64660400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr14:64653000-64660800	Strong transcription	Sigmoid Colon	Sigmoid Colon
35	chr14:64653000-64661200	Strong transcription	Fetal Intestine Large	intestine
36	chr14:64653000-64664000	Strong transcription	Primary neutrophils fromperipheralblood	blood
37	chr14:64653200-64660000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr14:64653200-64660000	Strong transcription	Skeletal Muscle Female	skeletal muscle
39	chr14:64653600-64661200	Weak transcription	Gastric	stomach
40	chr14:64653600-64663400	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr14:64653800-64659400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr14:64653800-64659400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr14:64653800-64661400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr14:64654400-64660200	Strong transcription	Primary T cells from cord blood	blood
45	chr14:64654800-64659000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
46	chr14:64655000-64658600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr14:64655200-64658600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr14:64655200-64658600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr14:64655200-64660400	Strong transcription	Fetal Muscle Leg	muscle
50	chr14:64655400-64658600	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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