Variant report

Variant	rs2295111
Chromosome Location	chr14:68236522-68236523
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68229141..68231002-chr14:68234239..68236824,2	MCF-7	breast:
2	chr14:68231981..68233538-chr14:68234681..68237116,2	K562	blood:
3	chr14:68228502..68230325-chr14:68235170..68236942,2	MCF-7	breast:
4	chr14:68234330..68237146-chr14:68237256..68240773,4	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1044126	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11158687	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11158688	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1117516	0.82[ASW][hapmap];0.82[MEX][hapmap];0.83[YRI][hapmap]
rs11629160	0.83[YRI][hapmap]
rs11849521	0.83[YRI][hapmap]
rs11849620	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12879105	0.87[EUR][1000 genomes]
rs17782603	0.82[MEX][hapmap];0.83[YRI][hapmap]
rs17782775	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1955468	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3759763	0.91[ASW][hapmap];0.81[MEX][hapmap];0.83[YRI][hapmap]
rs56233923	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56412443	0.85[AMR][1000 genomes]
rs61986978	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7149133	0.87[CHB][hapmap];0.84[JPT][hapmap];0.82[ASN][1000 genomes]
rs742866	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs742869	0.91[ASW][hapmap];0.82[MEX][hapmap]

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	nsv1042536	chr14:68136913-68343198	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv542122	chr14:68136913-68343198	Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1054697	chr14:68202004-68345982	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 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	chr14:68206200-68251000	Weak transcription	K562	blood
2	chr14:68212400-68282800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr14:68213000-68280800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr14:68213200-68243200	Strong transcription	Skeletal Muscle Female	skeletal muscle
5	chr14:68213400-68281200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr14:68213600-68279600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr14:68213800-68237000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr14:68213800-68280600	Strong transcription	Liver	Liver
9	chr14:68214000-68258200	Strong transcription	Brain Germinal Matrix	brain
10	chr14:68214600-68281000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:68214800-68266800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr14:68214800-68276200	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr14:68214800-68280200	Strong transcription	Fetal Thymus	thymus
14	chr14:68216600-68267200	Strong transcription	Fetal Stomach	stomach
15	chr14:68220000-68251200	Strong transcription	Fetal Muscle Trunk	muscle
16	chr14:68220200-68273000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr14:68223800-68257600	Strong transcription	Stomach Smooth Muscle	stomach
18	chr14:68224200-68244000	Strong transcription	Fetal Muscle Leg	muscle
19	chr14:68224800-68281000	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr14:68225000-68281000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr14:68225400-68242600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr14:68226000-68248800	Strong transcription	Skeletal Muscle Male	skeletal muscle
23	chr14:68226000-68257600	Strong transcription	H1 Cell Line	embryonic stem cell
24	chr14:68226200-68257600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr14:68226200-68257600	Strong transcription	Brain Inferior Temporal Lobe	brain
26	chr14:68226200-68281000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr14:68226400-68239200	Strong transcription	HUVEC	blood vessel
28	chr14:68226400-68257600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr14:68226400-68257600	Strong transcription	Brain Anterior Caudate	brain
30	chr14:68226400-68257600	Strong transcription	Brain Cingulate Gyrus	brain
31	chr14:68226400-68257600	Strong transcription	Brain Hippocampus Middle	brain
32	chr14:68226400-68257600	Strong transcription	Fetal Lung	lung
33	chr14:68226400-68257600	Strong transcription	Ovary	ovary
34	chr14:68226400-68257800	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr14:68226400-68257800	Strong transcription	Primary T cells from cord blood	blood
36	chr14:68226400-68258000	Strong transcription	Dnd41	blood
37	chr14:68226400-68258400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr14:68226400-68258600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
39	chr14:68226400-68262200	Strong transcription	Fetal Brain Female	brain
40	chr14:68226400-68272800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr14:68226400-68273200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr14:68226400-68276000	Strong transcription	Sigmoid Colon	Sigmoid Colon
43	chr14:68226400-68277800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr14:68226400-68278200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr14:68226400-68279800	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr14:68226400-68280600	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr14:68226400-68280800	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr14:68226400-68280800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
49	chr14:68226400-68281000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr14:68226600-68251600	Strong transcription	Left Ventricle	heart

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