Variant report

Variant	rs7023951
Chromosome Location	chr9:116780992-116780993
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:116778931..116781819-chr9:116782880..116785170,2	MCF-7	breast:
2	chr9:116773678..116775995-chr9:116779298..116781749,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10982045	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12335772	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12343684	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2025391	0.84[GIH][hapmap];0.85[LWK][hapmap];0.88[MKK][hapmap];0.89[TSI][hapmap];0.83[YRI][hapmap];0.88[EUR][1000 genomes]
rs3827675	0.94[CEU][hapmap];1.00[CHD][hapmap];0.85[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4979328	0.94[CEU][hapmap];0.86[TSI][hapmap];0.96[EUR][1000 genomes]
rs4979334	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[JPT][hapmap];0.94[MEX][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7023899	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7040742	0.82[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430093	chr9:116330446-117325446	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
2	nsv521361	chr9:116774010-116780992	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7023951	SLC46A2	cis	parietal	SCAN

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116733400-116800200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr9:116736400-116783000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr9:116756800-116783800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr9:116757000-116783400	Weak transcription	Small Intestine	intestine
5	chr9:116764600-116797200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr9:116765000-116783200	Weak transcription	NHEK	skin
7	chr9:116765800-116784400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr9:116766000-116784800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr9:116766000-116792600	Weak transcription	Stomach Mucosa	stomach
10	chr9:116766000-116798000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr9:116766200-116799000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr9:116766600-116782400	Strong transcription	A549	lung
13	chr9:116766600-116811200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr9:116767200-116785800	Weak transcription	Brain Cingulate Gyrus	brain
15	chr9:116768400-116794600	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr9:116768800-116784800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr9:116769400-116790400	Weak transcription	Right Ventricle	heart
18	chr9:116773600-116809200	Weak transcription	Fetal Heart	heart
19	chr9:116774000-116791200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr9:116774000-116791200	Weak transcription	Fetal Brain Male	brain
21	chr9:116774200-116783800	Weak transcription	HMEC	breast
22	chr9:116774200-116798400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr9:116774600-116790400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr9:116775200-116783400	Weak transcription	NH-A	brain
25	chr9:116775400-116784800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr9:116775600-116783000	Strong transcription	Fetal Lung	lung
27	chr9:116776200-116789800	Strong transcription	HUVEC	blood vessel
28	chr9:116776400-116782400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr9:116776800-116781600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr9:116777000-116782000	Weak transcription	HSMM	muscle
31	chr9:116777400-116781200	Strong transcription	Osteobl	bone
32	chr9:116777800-116782200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr9:116777800-116785000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr9:116778000-116781200	Strong transcription	Fetal Muscle Leg	muscle
35	chr9:116778000-116781400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr9:116778000-116781800	Strong transcription	Fetal Stomach	stomach
37	chr9:116778000-116785200	Strong transcription	NHDF-Ad	bronchial
38	chr9:116778200-116781400	Strong transcription	Fetal Intestine Small	intestine
39	chr9:116778200-116781800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr9:116778400-116781000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr9:116778400-116781600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr9:116778400-116781600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr9:116778400-116781800	Strong transcription	Fetal Muscle Trunk	muscle
44	chr9:116778400-116783000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr9:116778400-116783000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr9:116778400-116785000	Strong transcription	Primary hematopoietic stem cells	blood
47	chr9:116778400-116785400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr9:116778600-116781000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr9:116778600-116781000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr9:116778600-116781000	Strong transcription	NHLF	lung

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