Variant report

Variant	rs13232115
Chromosome Location	chr7:99670932-99670933
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:99601553..99605102-chr7:99669434..99672992,3	K562	blood:
2	chr7:99613641..99615215-chr7:99668829..99671768,2	K562	blood:
3	chr7:99668310..99676246-chr7:99677185..99681836,16	MCF-7	breast:
4	chr7:99661987..99666406-chr7:99667743..99671681,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000106261	Chromatin interaction
ENSG00000166526	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10228764	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10281368	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1060544	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12705070	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12705071	0.88[EUR][1000 genomes]
rs13223792	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1534310	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2070215	0.88[EUR][1000 genomes]
rs2293479	0.80[AMR][1000 genomes]
rs34031156	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4134903	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4424195	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4729576	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59261051	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6465761	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6465762	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6950205	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6953441	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6974305	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829865	chr7:99430678-99755141	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1131 gene(s)	inside rSNPs	diseases
2	esv1830649	chr7:99430678-99755141	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1131 gene(s)	inside rSNPs	diseases
3	nsv534298	chr7:99478011-99886076	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1132 gene(s)	inside rSNPs	diseases
4	nsv469687	chr7:99572543-99755141	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1115 gene(s)	inside rSNPs	diseases
5	nsv482601	chr7:99572543-99755141	Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1115 gene(s)	inside rSNPs	diseases
6	nsv607931	chr7:99664817-99796146	Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1097 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13232115	SLC12A9	cis	brain	BrainEAC

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99661600-99675200	ZNF genes & repeats	A549	lung
2	chr7:99664600-99673600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr7:99665800-99673400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:99665800-99673600	ZNF genes & repeats	Fetal Stomach	stomach
5	chr7:99666000-99675000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
6	chr7:99666400-99674000	ZNF genes & repeats	Fetal Intestine Small	intestine
7	chr7:99666400-99677200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:99666400-99678000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:99666600-99672000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:99666600-99674000	ZNF genes & repeats	Fetal Muscle Leg	muscle
11	chr7:99666800-99672000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr7:99666800-99673400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
13	chr7:99666800-99673600	ZNF genes & repeats	HSMM	muscle
14	chr7:99666800-99673800	ZNF genes & repeats	GM12878-XiMat	blood
15	chr7:99666800-99674400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
16	chr7:99666800-99675200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
17	chr7:99666800-99677000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:99667000-99671000	ZNF genes & repeats	NHLF	lung
19	chr7:99667000-99673400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
20	chr7:99667000-99673600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr7:99667200-99671000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
22	chr7:99667200-99671000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr7:99667200-99671400	ZNF genes & repeats	Lung	lung
24	chr7:99667200-99671800	ZNF genes & repeats	Fetal Muscle Trunk	muscle
25	chr7:99667200-99673000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
26	chr7:99667200-99673200	ZNF genes & repeats	Fetal Intestine Large	intestine
27	chr7:99667400-99671000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr7:99667400-99671000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
29	chr7:99667400-99671000	ZNF genes & repeats	Placenta	Placenta
30	chr7:99667400-99671400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
31	chr7:99667400-99671400	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
32	chr7:99667400-99671400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
33	chr7:99667400-99671600	ZNF genes & repeats	HMEC	breast
34	chr7:99667400-99671800	ZNF genes & repeats	NH-A	brain
35	chr7:99667400-99673400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr7:99667400-99673600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
37	chr7:99667400-99674400	Strong transcription	HepG2	liver
38	chr7:99667400-99675000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr7:99667400-99675000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
40	chr7:99667600-99671000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr7:99667600-99671000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr7:99667600-99671000	ZNF genes & repeats	Liver	Liver
43	chr7:99667600-99671000	ZNF genes & repeats	NHEK	skin
44	chr7:99667600-99671400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
45	chr7:99667600-99671400	ZNF genes & repeats	HUVEC	blood vessel
46	chr7:99667600-99672000	ZNF genes & repeats	Brain Germinal Matrix	brain
47	chr7:99667600-99672000	ZNF genes & repeats	Fetal Thymus	thymus
48	chr7:99667600-99673000	ZNF genes & repeats	Fetal Lung	lung
49	chr7:99667600-99673200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr7:99667600-99673600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell

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