Variant report

Variant	rs17518754
Chromosome Location	chr9:95038706-95038707
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:95010592..95014483-chr9:95035831..95038988,3	K562	blood:
2	chr9:95008635..95010246-chr9:95036891..95039178,2	K562	blood:
3	chr9:95035311..95039708-chr9:95055298..95058427,6	MCF-7	breast:
4	chr9:95031180..95034095-chr9:95036544..95038864,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196305	Chromatin interaction

Extended variants
information (count: 130 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:123)

rs_ID	r²[population]
rs15717	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16908281	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17518691	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17519320	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17519719	1.00[CHB][hapmap]
rs17590748	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17591007	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs17591776	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17677599	0.90[ASN][1000 genomes]
rs17678735	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2044540	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2230405	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2236343	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2236344	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2236529	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2273860	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2274967	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28365880	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3736834	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3736836	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3737147	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3758228	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs3758230	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3758231	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3758232	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3780340	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3780341	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3780342	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3780348	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3858097	1.00[CHB][hapmap]
rs41276835	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41277647	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41277739	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs41280223	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs41297183	0.88[EUR][1000 genomes]
rs41301527	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs41307467	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs41312230	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4298540	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59083571	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59627747	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61742574	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67546506	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72750403	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750404	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750405	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750407	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750408	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750409	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750418	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750419	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750420	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750421	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750422	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750426	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750427	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750430	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750431	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750432	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750433	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750434	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750437	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750438	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72750441	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750445	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750447	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750448	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750449	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750450	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750451	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750454	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750456	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750457	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750458	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750463	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750465	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750466	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750468	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750469	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750472	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750474	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750477	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750478	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750479	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750482	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750483	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750485	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750487	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750490	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750491	1.00[ASN][1000 genomes]
rs72750493	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750494	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750496	0.83[EUR][1000 genomes]
rs72750498	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750500	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750501	0.88[EUR][1000 genomes]
rs72750502	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72752403	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72752404	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72752405	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72752406	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72752411	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72752417	0.83[EUR][1000 genomes]
rs72752419	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72752422	0.83[EUR][1000 genomes]
rs72752425	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72752427	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72752431	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72752435	0.83[EUR][1000 genomes]
rs72752442	0.88[EUR][1000 genomes]
rs72752443	0.88[EUR][1000 genomes]
rs72752444	0.88[EUR][1000 genomes]
rs72752445	0.88[EUR][1000 genomes]
rs72752446	0.88[EUR][1000 genomes]
rs72752449	0.88[EUR][1000 genomes]
rs72752453	0.88[EUR][1000 genomes]
rs72752454	0.88[EUR][1000 genomes]
rs72752457	0.88[EUR][1000 genomes]
rs72752458	0.88[EUR][1000 genomes]
rs72752460	0.88[EUR][1000 genomes]
rs72752463	0.88[EUR][1000 genomes]
rs7872423	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs921122	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv949008	chr9:94500776-95182133	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1050845	chr9:94687959-95312406	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv1046733	chr9:94690622-95138564	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv530947	chr9:94697309-95093377	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv917089	chr9:94857047-95099848	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv893573	chr9:94974188-95355719	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv972780	chr9:95008644-95049016	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94982800-95045600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr9:94990200-95054000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr9:94991200-95052400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr9:94991200-95053600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
5	chr9:94991400-95050400	Strong transcription	Dnd41	blood
6	chr9:94991400-95052400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr9:94991400-95053600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr9:94991400-95053800	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr9:94991400-95053800	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr9:94991800-95053800	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr9:94991800-95054000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr9:94994000-95053000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr9:94994600-95051200	Strong transcription	Primary B cells from peripheral blood	blood
14	chr9:94996000-95048600	Strong transcription	Fetal Stomach	stomach
15	chr9:94996200-95051400	Strong transcription	H1 Cell Line	embryonic stem cell
16	chr9:94996200-95051400	Strong transcription	Fetal Thymus	thymus
17	chr9:94996200-95052000	Strong transcription	Fetal Muscle Trunk	muscle
18	chr9:94996400-95051400	Strong transcription	Fetal Muscle Leg	muscle
19	chr9:94996400-95052000	Strong transcription	Duodenum Mucosa	Duodenum
20	chr9:94996800-95042600	Strong transcription	Fetal Brain Female	brain
21	chr9:94997000-95042800	Strong transcription	Skeletal Muscle Male	skeletal muscle
22	chr9:94998600-95042800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr9:94998600-95050600	Strong transcription	H9 Cell Line	embryonic stem cell
24	chr9:94998600-95051200	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr9:94998600-95051600	Strong transcription	Adipose Nuclei	Adipose
26	chr9:94998800-95045000	Strong transcription	Skeletal Muscle Female	skeletal muscle
27	chr9:94998800-95048000	Strong transcription	Cortex derived primary cultured neurospheres	brain
28	chr9:94998800-95049600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr9:94998800-95050200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr9:94998800-95051400	Strong transcription	Fetal Intestine Large	intestine
31	chr9:94999000-95043200	Strong transcription	Duodenum Smooth Muscle	Duodenum
32	chr9:94999000-95048800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr9:94999400-95051000	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr9:94999600-95049600	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr9:94999800-95048400	Strong transcription	Stomach Smooth Muscle	stomach
36	chr9:95000200-95042800	Strong transcription	Thymus	Thymus
37	chr9:95000400-95048600	Strong transcription	Sigmoid Colon	Sigmoid Colon
38	chr9:95000400-95048800	Strong transcription	Left Ventricle	heart
39	chr9:95000400-95050800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
40	chr9:95000600-95045000	Strong transcription	Primary B cells from cord blood	blood
41	chr9:95000600-95049000	Strong transcription	Placenta	Placenta
42	chr9:95001400-95042800	Strong transcription	Brain Germinal Matrix	brain
43	chr9:95002600-95054000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr9:95004600-95046600	Strong transcription	Brain Anterior Caudate	brain
45	chr9:95008000-95040600	Strong transcription	NHEK	skin
46	chr9:95009000-95053800	Strong transcription	HSMM	muscle
47	chr9:95009600-95054000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr9:95009800-95040200	Strong transcription	NH-A	brain
49	chr9:95010000-95040000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr9:95011000-95041600	Strong transcription	Liver	Liver

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