Variant report

Variant	rs10123611
Chromosome Location	chr9:14749329-14749330
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10117516	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs10511596	0.85[CEU][hapmap]
rs10756608	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10756609	0.95[CEU][hapmap];0.90[EUR][1000 genomes]
rs10961689	0.85[CEU][hapmap]
rs10961690	0.81[CEU][hapmap]
rs1494343	0.81[CEU][hapmap]
rs1908300	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[ASN][1000 genomes]
rs1908301	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2270529	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2270530	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2382498	0.93[CEU][hapmap];0.88[CHB][hapmap];0.93[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34128844	0.95[ASN][1000 genomes]
rs7028604	0.90[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7033951	1.00[ASN][1000 genomes]
rs7872460	0.94[ASN][1000 genomes]
rs903314	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs989615	0.84[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029491	chr9:14033607-14942373	Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv915804	chr9:14182608-14903050	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv613637	chr9:14524438-15011915	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	esv3362157	chr9:14542189-14791977	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1025566	chr9:14687088-14791199	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv933345	chr9:14695436-14750474	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv892614	chr9:14712257-14756969	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14730800-14764400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr9:14732600-14755200	Weak transcription	Fetal Intestine Large	intestine
3	chr9:14740400-14749600	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr9:14741600-14750000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr9:14743600-14749600	Weak transcription	Fetal Heart	heart
6	chr9:14745000-14751800	Strong transcription	Fetal Kidney	kidney
7	chr9:14745000-14809800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr9:14745400-14749600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr9:14745400-14751400	Strong transcription	Fetal Lung	lung
10	chr9:14745600-14749400	Strong transcription	Colon Smooth Muscle	Colon
11	chr9:14745800-14752400	Weak transcription	Fetal Intestine Small	intestine
12	chr9:14747000-14750200	Weak transcription	Fetal Stomach	stomach
13	chr9:14747200-14750000	Weak transcription	Duodenum Mucosa	Duodenum
14	chr9:14747400-14749400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr9:14747400-14751400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr9:14747600-14750400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr9:14748000-14749800	Weak transcription	HUVEC	blood vessel
18	chr9:14748400-14749400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr9:14748800-14749600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr9:14748800-14749600	Weak transcription	Fetal Muscle Leg	muscle
21	chr9:14748800-14754000	Weak transcription	Adipose Nuclei	Adipose
22	chr9:14748800-14775600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr9:14748800-14775800	Weak transcription	Fetal Muscle Trunk	muscle
24	chr9:14748800-14790000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr9:14749000-14749400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr9:14749000-14749600	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr9:14749000-14749600	Weak transcription	Pancreas	Pancrea
28	chr9:14749000-14749800	Weak transcription	HepG2	liver
29	chr9:14749000-14751200	Enhancers	Primary T cells from cord blood	blood
30	chr9:14749200-14749600	Weak transcription	Aorta	Aorta
31	chr9:14749200-14750400	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr9:14749200-14751000	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr9:14749200-14751200	Enhancers	HUES64 Cell Line	embryonic stem cell

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