Variant report

Variant	rs10782455
Chromosome Location	chr14:68233527-68233528
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68144369..68146603-chr14:68232826..68234419,2	MCF-7	breast:
2	chr14:68231981..68233538-chr14:68234681..68237116,2	K562	blood:
3	chr14:68143497..68145467-chr14:68232189..68234111,2	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11158691	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11158692	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11622772	0.91[ASN][1000 genomes]
rs12433998	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12435035	0.89[ASN][1000 genomes]
rs12879105	0.80[ASN][1000 genomes]
rs12881478	0.97[ASN][1000 genomes]
rs3825726	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs742868	0.87[ASN][1000 genomes]
rs9449	0.85[ASN][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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10782455	RDH11	cis	Nerve Tibial	GTEx

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	chr14:68218600-68236400	Strong transcription	GM12878-XiMat	blood
16	chr14:68220000-68251200	Strong transcription	Fetal Muscle Trunk	muscle
17	chr14:68220200-68273000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr14:68221600-68233800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr14:68223800-68257600	Strong transcription	Stomach Smooth Muscle	stomach
20	chr14:68224200-68244000	Strong transcription	Fetal Muscle Leg	muscle
21	chr14:68224800-68281000	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr14:68225000-68281000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr14:68225400-68242600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr14:68226000-68248800	Strong transcription	Skeletal Muscle Male	skeletal muscle
25	chr14:68226000-68257600	Strong transcription	H1 Cell Line	embryonic stem cell
26	chr14:68226200-68257600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr14:68226200-68257600	Strong transcription	Brain Inferior Temporal Lobe	brain
28	chr14:68226200-68281000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr14:68226400-68239200	Strong transcription	HUVEC	blood vessel
30	chr14:68226400-68257600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr14:68226400-68257600	Strong transcription	Brain Anterior Caudate	brain
32	chr14:68226400-68257600	Strong transcription	Brain Cingulate Gyrus	brain
33	chr14:68226400-68257600	Strong transcription	Brain Hippocampus Middle	brain
34	chr14:68226400-68257600	Strong transcription	Fetal Lung	lung
35	chr14:68226400-68257600	Strong transcription	Ovary	ovary
36	chr14:68226400-68257800	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr14:68226400-68257800	Strong transcription	Primary T cells from cord blood	blood
38	chr14:68226400-68258000	Strong transcription	Dnd41	blood
39	chr14:68226400-68258400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr14:68226400-68258600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
41	chr14:68226400-68262200	Strong transcription	Fetal Brain Female	brain
42	chr14:68226400-68272800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr14:68226400-68273200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr14:68226400-68276000	Strong transcription	Sigmoid Colon	Sigmoid Colon
45	chr14:68226400-68277800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr14:68226400-68278200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr14:68226400-68279800	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr14:68226400-68280600	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr14:68226400-68280800	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr14:68226400-68280800	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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