Variant report

Variant	rs17695669
Chromosome Location	chr10:18953857-18953858
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:18947800..18949870-chr10:18951360..18954331,4	MCF-7	breast:
2	chr10:18946565..18950911-chr10:18951359..18956154,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000152487	Chromatin interaction
ENSG00000165997	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1055114	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17622920	0.95[CEU][hapmap]
rs17693687	1.00[YRI][hapmap]
rs1971272	0.83[CEU][hapmap];0.87[EUR][1000 genomes]
rs45499092	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs58857018	0.84[EUR][1000 genomes]
rs7070044	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7073751	0.92[EUR][1000 genomes]
rs7905432	0.83[AMR][1000 genomes];0.85[EUR][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	nsv550042	chr10:18683267-18994583	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv466762	chr10:18932172-18976659	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv550121	chr10:18932172-18976659	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17695669	CACNB2	Cis_1M	lymphoblastoid	RTeQTL
rs17695669	NSUN6	cis	lung	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:18949000-18954000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr10:18949400-18973200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr10:18949600-18957000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr10:18949600-18972000	Weak transcription	Stomach Smooth Muscle	stomach
5	chr10:18949800-18956600	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr10:18950000-18956600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr10:18950000-18957600	Weak transcription	Fetal Stomach	stomach
8	chr10:18950200-18954600	Weak transcription	HSMM	muscle
9	chr10:18950200-18956000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr10:18950200-18956800	Weak transcription	Left Ventricle	heart
11	chr10:18950200-18957000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr10:18950200-18957000	Weak transcription	Fetal Muscle Trunk	muscle
13	chr10:18950200-18957600	Weak transcription	Placenta	Placenta
14	chr10:18950400-18957000	Weak transcription	Adipose Nuclei	Adipose
15	chr10:18950800-18954000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr10:18950800-18954000	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr10:18950800-18954000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr10:18950800-18954200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr10:18950800-18954400	Weak transcription	NHDF-Ad	bronchial
20	chr10:18950800-18955600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr10:18950800-18956000	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr10:18950800-18956000	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr10:18950800-18956000	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr10:18950800-18962400	Weak transcription	Fetal Kidney	kidney
25	chr10:18951000-18954000	Weak transcription	Primary B cells from cord blood	blood
26	chr10:18951000-18954400	Weak transcription	Brain Anterior Caudate	brain
27	chr10:18951000-18954600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr10:18951000-18954600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr10:18951000-18954600	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr10:18951000-18956000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr10:18951000-18956600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr10:18951000-18956600	Weak transcription	Brain Germinal Matrix	brain
33	chr10:18951000-18957000	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr10:18951000-18957400	Weak transcription	Primary B cells from peripheral blood	blood
35	chr10:18951000-18961800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr10:18951000-18962400	Weak transcription	Fetal Lung	lung
37	chr10:18951000-18965800	Weak transcription	Colonic Mucosa	Colon
38	chr10:18951000-18966600	Weak transcription	Rectal Smooth Muscle	rectum
39	chr10:18951000-18967400	Weak transcription	Esophagus	oesophagus
40	chr10:18951000-18971800	Weak transcription	Spleen	Spleen
41	chr10:18951000-18976400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr10:18951200-18954000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr10:18951200-18954000	Weak transcription	Brain Substantia Nigra	brain
44	chr10:18951200-18954000	Weak transcription	NHLF	lung
45	chr10:18951200-18954400	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr10:18951200-18954400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr10:18951200-18954400	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr10:18951200-18954400	Weak transcription	Right Atrium	heart
49	chr10:18951200-18954600	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr10:18951200-18954600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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