Variant report

Variant	rs7917323
Chromosome Location	chr10:18951967-18951968
allele	A/T
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: 41 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10764566	1.00[JPT][hapmap]
rs10764584	1.00[JPT][hapmap]
rs10828835	1.00[JPT][hapmap]
rs10828859	1.00[JPT][hapmap]
rs10828879	1.00[JPT][hapmap]
rs10828906	1.00[JPT][hapmap]
rs11015307	1.00[JPT][hapmap]
rs11015416	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11015454	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12357594	0.93[EUR][1000 genomes]
rs12359572	0.81[EUR][1000 genomes]
rs12772534	1.00[JPT][hapmap]
rs1352655	1.00[JPT][hapmap]
rs17622920	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17623007	1.00[ASN][1000 genomes]
rs1971272	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs2035752	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34503140	1.00[ASN][1000 genomes]
rs4279920	1.00[ASN][1000 genomes]
rs45580334	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4578284	1.00[JPT][hapmap]
rs4747353	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4748480	1.00[JPT][hapmap]
rs4748495	1.00[JPT][hapmap]
rs61298471	1.00[ASN][1000 genomes]
rs6482516	1.00[JPT][hapmap]
rs6482529	1.00[JPT][hapmap]
rs7073751	1.00[ASN][1000 genomes]
rs7081811	1.00[JPT][hapmap]
rs7088214	1.00[JPT][hapmap]
rs7093518	1.00[ASN][1000 genomes]
rs7095070	1.00[JPT][hapmap]
rs7098313	1.00[JPT][hapmap]
rs7098826	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7099975	1.00[JPT][hapmap]
rs7902450	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7905730	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7917217	1.00[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	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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7917323	NSUN6	cis	Nerve Tibial	GTEx
rs7917323	CACNB2	Cis_1M	lymphoblastoid	RTeQTL
rs7917323	NSUN6	cis	lung	GTEx

Chromatin state (count:125 , 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	chr10:18949600-18952400	Enhancers	Primary T cells fromperipheralblood	blood
4	chr10:18949600-18952400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr10:18949600-18953800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr10:18949600-18957000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr10:18949600-18972000	Weak transcription	Stomach Smooth Muscle	stomach
8	chr10:18949800-18952200	Enhancers	Small Intestine	intestine
9	chr10:18949800-18956600	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr10:18950000-18953800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr10:18950000-18956600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr10:18950000-18957600	Weak transcription	Fetal Stomach	stomach
13	chr10:18950200-18953600	Weak transcription	Lung	lung
14	chr10:18950200-18954600	Weak transcription	HSMM	muscle
15	chr10:18950200-18956000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr10:18950200-18956800	Weak transcription	Left Ventricle	heart
17	chr10:18950200-18957000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr10:18950200-18957000	Weak transcription	Fetal Muscle Trunk	muscle
19	chr10:18950200-18957600	Weak transcription	Placenta	Placenta
20	chr10:18950400-18953400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr10:18950400-18957000	Weak transcription	Adipose Nuclei	Adipose
22	chr10:18950800-18952200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr10:18950800-18953600	Weak transcription	Ovary	ovary
24	chr10:18950800-18954000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr10:18950800-18954000	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr10:18950800-18954000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr10:18950800-18954200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr10:18950800-18954400	Weak transcription	NHDF-Ad	bronchial
29	chr10:18950800-18955600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr10:18950800-18956000	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr10:18950800-18956000	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr10:18950800-18956000	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr10:18950800-18962400	Weak transcription	Fetal Kidney	kidney
34	chr10:18951000-18952000	Weak transcription	Fetal Muscle Leg	muscle
35	chr10:18951000-18952200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr10:18951000-18952400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr10:18951000-18953600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr10:18951000-18953600	Weak transcription	Right Ventricle	heart
39	chr10:18951000-18953800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr10:18951000-18953800	Weak transcription	Stomach Mucosa	stomach
41	chr10:18951000-18953800	Weak transcription	Thymus	Thymus
42	chr10:18951000-18953800	Weak transcription	A549	lung
43	chr10:18951000-18954000	Weak transcription	Primary B cells from cord blood	blood
44	chr10:18951000-18954400	Weak transcription	Brain Anterior Caudate	brain
45	chr10:18951000-18954600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr10:18951000-18954600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr10:18951000-18954600	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr10:18951000-18956000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr10:18951000-18956600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr10:18951000-18956600	Weak transcription	Brain Germinal Matrix	brain

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