Variant report

Variant	rs17483165
Chromosome Location	chr9:71442434-71442435
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10448322	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10448338	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10781282	0.88[CEU][hapmap]
rs10869320	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10869538	0.93[CEU][hapmap]
rs11143691	0.80[CEU][hapmap]
rs11143741	0.88[CEU][hapmap]
rs11143761	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11143777	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11143870	0.88[CEU][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11143882	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11143900	0.82[CEU][hapmap]
rs11143938	0.84[CEU][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11143951	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11143988	0.93[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11144059	0.81[CEU][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes]
rs11144063	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11144074	1.00[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11144136	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11144138	1.00[CEU][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11144152	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11144154	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11144158	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11144162	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11144163	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11144178	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11144181	1.00[CEU][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11144191	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11144206	0.93[CEU][hapmap];0.91[EUR][1000 genomes]
rs11144215	1.00[CEU][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11144274	0.86[EUR][1000 genomes]
rs11144305	1.00[CEU][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11144327	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11144351	1.00[CEU][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12003432	0.93[CEU][hapmap];0.89[EUR][1000 genomes]
rs12339235	0.82[CEU][hapmap]
rs12376037	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12376991	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12377033	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12379061	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12552102	0.86[CEU][hapmap]
rs12555680	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12555728	0.87[CEU][hapmap]
rs1414951	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1414952	1.00[YRI][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1414954	1.00[CEU][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17057680	0.93[CEU][hapmap];0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17058634	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17058780	1.00[CEU][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17058792	0.82[CEU][hapmap];0.82[EUR][1000 genomes]
rs17391456	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17391582	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4376559	0.82[CEU][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4744737	1.00[ASN][1000 genomes]
rs62552132	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62566870	1.00[ASN][1000 genomes]
rs62566871	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62566872	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62566911	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62566915	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62566916	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62569347	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62569349	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62571161	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7042283	0.91[EUR][1000 genomes]
rs72717956	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720053	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720061	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720068	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72722034	1.00[ASN][1000 genomes]
rs7865397	0.82[CEU][hapmap];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032210	chr9:71130848-71511987	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	esv2422258	chr9:71234845-71663340	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1017903	chr9:71276951-71690579	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv1051723	chr9:71398713-71971285	Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv1053402	chr9:71399722-71819949	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv540146	chr9:71399722-71819949	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv1043689	chr9:71399922-71800338	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv540147	chr9:71399922-71800338	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
9	nsv1047540	chr9:71401918-71803639	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
10	nsv1050741	chr9:71405224-71450033	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv540148	chr9:71405224-71450033	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv931684	chr9:71417110-71957723	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
13	nsv1049175	chr9:71418242-71986910	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
14	nsv6548	chr9:71429527-71470917	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71414000-71445000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr9:71418600-71444800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr9:71421400-71443000	Weak transcription	Duodenum Mucosa	Duodenum
4	chr9:71425000-71448600	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr9:71432800-71445600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr9:71433400-71449000	Weak transcription	HepG2	liver
7	chr9:71434400-71443600	Strong transcription	Primary B cells from peripheral blood	blood
8	chr9:71435800-71464800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr9:71437400-71448200	Weak transcription	Lung	lung
10	chr9:71437600-71453200	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr9:71438000-71442800	Weak transcription	Right Atrium	heart
12	chr9:71438000-71442800	Weak transcription	K562	blood
13	chr9:71438000-71447400	Weak transcription	Aorta	Aorta
14	chr9:71438000-71447400	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr9:71438000-71491200	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr9:71439200-71443000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr9:71439200-71456000	Weak transcription	GM12878-XiMat	blood
18	chr9:71440200-71443600	Enhancers	Left Ventricle	heart
19	chr9:71440600-71466600	Weak transcription	Gastric	stomach
20	chr9:71440800-71444200	Weak transcription	Brain Cingulate Gyrus	brain
21	chr9:71441000-71445000	Weak transcription	Fetal Brain Female	brain
22	chr9:71441000-71478600	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr9:71441200-71443200	Weak transcription	Fetal Stomach	stomach
24	chr9:71441200-71444000	Strong transcription	Fetal Intestine Small	intestine
25	chr9:71441200-71447200	Weak transcription	Primary B cells from cord blood	blood
26	chr9:71441400-71444000	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr9:71441400-71444200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr9:71441400-71444200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr9:71441400-71444400	Weak transcription	Brain Germinal Matrix	brain
30	chr9:71441400-71444600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr9:71441400-71444600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr9:71441400-71445200	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr9:71441400-71447000	Weak transcription	Stomach Mucosa	stomach
34	chr9:71441600-71444400	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr9:71441600-71445200	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr9:71441600-71445600	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr9:71441600-71459800	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr9:71442200-71444000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr9:71442400-71442600	Genic enhancers	Fetal Intestine Large	intestine
40	chr9:71442400-71443200	Enhancers	Fetal Heart	heart

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