Variant report

Variant	rs17105494
Chromosome Location	chr14:68842630-68842631
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:68701861..68704813-chr14:68840694..68843501,2	MCF-7	breast:
2	chr14:68841263..68843280-chr14:68843376..68844919,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000243546	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs10131303	1.00[GIH][hapmap]
rs10145446	1.00[GIH][hapmap]
rs11626015	1.00[GIH][hapmap]
rs1570107	1.00[GIH][hapmap]
rs17105501	0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs17105545	0.85[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap]
rs17105601	1.00[GIH][hapmap]
rs17105664	1.00[GIH][hapmap]
rs7149619	0.85[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs7359118	0.85[CHB][hapmap]
rs749350	0.85[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs749352	0.85[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs8009813	0.81[CEU][hapmap]
rs8010233	0.81[CEU][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869154	chr14:68366754-69041768	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs17105494	RDH12	cis	parietal	SCAN
rs17105494	PLEK2	cis	parietal	SCAN
rs17105494	NEIL2	trans	cerebellum	SCAN

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68831800-68844200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:68832000-68843200	Weak transcription	Placenta	Placenta
3	chr14:68832000-68843800	Weak transcription	Ovary	ovary
4	chr14:68832000-68844200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr14:68832000-68851600	Weak transcription	Lung	lung
6	chr14:68832200-68844200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:68832200-68844200	Weak transcription	Brain Germinal Matrix	brain
8	chr14:68833000-68845200	Enhancers	Primary B cells from peripheral blood	blood
9	chr14:68834000-68843400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr14:68834400-68846400	Weak transcription	Fetal Heart	heart
11	chr14:68835200-68843600	Weak transcription	Brain Anterior Caudate	brain
12	chr14:68835600-68843800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr14:68836400-68843200	Weak transcription	Spleen	Spleen
14	chr14:68836400-68847000	Weak transcription	Aorta	Aorta
15	chr14:68836800-68843200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr14:68836800-68843800	Weak transcription	Duodenum Mucosa	Duodenum
17	chr14:68837200-68843000	Weak transcription	Brain Substantia Nigra	brain
18	chr14:68837200-68843200	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr14:68837400-68842800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr14:68837400-68843200	Weak transcription	Fetal Kidney	kidney
21	chr14:68837400-68843600	Weak transcription	Fetal Intestine Large	intestine
22	chr14:68837400-68843600	Weak transcription	Fetal Intestine Small	intestine
23	chr14:68837400-68844000	Weak transcription	Stomach Mucosa	stomach
24	chr14:68839200-68843200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr14:68839200-68844200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr14:68839400-68843000	Weak transcription	HepG2	liver
27	chr14:68839400-68844200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr14:68839600-68844000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr14:68839800-68844000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr14:68839800-68844000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr14:68839800-68844200	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr14:68839800-68850600	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr14:68840000-68845800	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr14:68840400-68844200	Enhancers	Primary B cells from cord blood	blood
35	chr14:68840600-68842800	Enhancers	Primary T cells from cord blood	blood
36	chr14:68840600-68843600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr14:68840600-68847600	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr14:68840600-68847800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr14:68840800-68844600	Enhancers	Fetal Muscle Leg	muscle
40	chr14:68840800-68845200	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr14:68840800-68847400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr14:68840800-68847400	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr14:68840800-68847600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
44	chr14:68840800-68847600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr14:68841000-68844600	Enhancers	Fetal Thymus	thymus
46	chr14:68841000-68846000	Enhancers	Fetal Lung	lung
47	chr14:68841200-68843200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr14:68841200-68844000	Enhancers	GM12878-XiMat	blood
49	chr14:68841200-68845800	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr14:68841400-68844600	Enhancers	Primary T cells fromperipheralblood	blood

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