Variant report

Variant	rs17358860
Chromosome Location	chr4:120518064-120518065
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:120517016..120518530-chr4:120541484..120543231,2	K562	blood:

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10012485	0.89[CEU][hapmap];0.89[JPT][hapmap]
rs10025536	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10518335	0.84[CEU][hapmap];0.89[JPT][hapmap];0.97[LWK][hapmap];0.84[MKK][hapmap];0.94[TSI][hapmap];0.83[AFR][1000 genomes]
rs11724055	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11730798	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11731568	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12646525	0.89[CEU][hapmap];0.89[JPT][hapmap];0.94[TSI][hapmap]
rs13103510	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13103899	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13106925	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13107334	0.81[GIH][hapmap];0.84[TSI][hapmap]
rs13116789	1.00[CHB][hapmap]
rs13118388	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13120581	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13121569	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];0.89[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13124532	0.87[TSI][hapmap]
rs13133969	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13136296	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13137511	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13140150	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13147817	0.82[EUR][1000 genomes]
rs17292047	1.00[CHB][hapmap];0.87[TSI][hapmap];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17358524	1.00[CHB][hapmap];0.87[TSI][hapmap];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1987179	0.89[CEU][hapmap];0.89[JPT][hapmap];0.94[TSI][hapmap]
rs2248236	0.89[CEU][hapmap];0.89[JPT][hapmap]
rs2389863	0.84[CEU][hapmap];0.94[TSI][hapmap]
rs2389866	0.89[CEU][hapmap];0.89[JPT][hapmap]
rs2389868	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2389869	0.89[CEU][hapmap];0.89[JPT][hapmap];0.94[TSI][hapmap]
rs2389870	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2622499	0.89[CEU][hapmap];0.89[JPT][hapmap];0.94[TSI][hapmap]
rs2892870	0.82[EUR][1000 genomes]
rs2953295	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34601943	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34676199	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35264119	0.82[EUR][1000 genomes]
rs35289699	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35581370	0.81[EUR][1000 genomes]
rs35850447	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35967840	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35999787	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3756154	0.89[CEU][hapmap];0.89[JPT][hapmap];0.94[TSI][hapmap]
rs3756155	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3775846	1.00[CHB][hapmap];0.81[EUR][1000 genomes]
rs3775850	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3775851	1.00[CEU][hapmap];0.95[GIH][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3775856	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4833620	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4834782	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4834788	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4834789	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4834790	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61747388	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62319574	0.80[EUR][1000 genomes]
rs62319578	0.82[EUR][1000 genomes]
rs62319606	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62319609	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62319612	0.85[EUR][1000 genomes]
rs62319647	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62319657	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62319658	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6817975	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6822275	0.83[EUR][1000 genomes]
rs71614451	0.82[EUR][1000 genomes]
rs7676589	0.80[EUR][1000 genomes]
rs7684899	0.88[CEU][hapmap];0.89[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv532739	chr4:120392824-121098103	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv1010753	chr4:120429028-120684310	Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv537233	chr4:120429028-120684310	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1006572	chr4:120432494-120694243	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120485800-120520000	Weak transcription	Small Intestine	intestine
2	chr4:120486800-120527600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr4:120492200-120540000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr4:120501800-120520000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr4:120502200-120527800	Weak transcription	Pancreas	Pancrea
6	chr4:120502400-120526400	Weak transcription	Fetal Stomach	stomach
7	chr4:120502600-120541000	Weak transcription	Left Ventricle	heart
8	chr4:120504400-120520200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr4:120504600-120519800	Weak transcription	Fetal Intestine Small	intestine
10	chr4:120505000-120519800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr4:120505200-120518400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr4:120505600-120519800	Weak transcription	Duodenum Mucosa	Duodenum
13	chr4:120506200-120525800	Weak transcription	Fetal Kidney	kidney
14	chr4:120509600-120520000	Weak transcription	Psoas Muscle	Psoas
15	chr4:120511400-120520000	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr4:120511600-120519600	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr4:120512600-120519600	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr4:120512600-120530400	Weak transcription	Colonic Mucosa	Colon
19	chr4:120512800-120531600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr4:120513200-120518400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr4:120514200-120520000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr4:120514200-120528600	Weak transcription	Gastric	stomach
23	chr4:120514800-120518200	Strong transcription	NHLF	lung
24	chr4:120514800-120518400	Weak transcription	Fetal Heart	heart
25	chr4:120514800-120519400	Weak transcription	Fetal Lung	lung
26	chr4:120515000-120519800	Weak transcription	Colon Smooth Muscle	Colon
27	chr4:120516000-120518800	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr4:120516000-120519800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr4:120516000-120520200	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr4:120516000-120520200	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr4:120516600-120518800	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr4:120516800-120527800	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr4:120517000-120518600	Weak transcription	Aorta	Aorta
34	chr4:120517000-120519400	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr4:120517000-120519800	Weak transcription	Fetal Muscle Trunk	muscle
36	chr4:120517000-120519800	Weak transcription	Fetal Muscle Leg	muscle
37	chr4:120517000-120520200	Weak transcription	Fetal Intestine Large	intestine
38	chr4:120517000-120527600	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr4:120517000-120527800	Weak transcription	Stomach Smooth Muscle	stomach
40	chr4:120517000-120531400	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr4:120517000-120536600	Weak transcription	Ovary	ovary
42	chr4:120517200-120519600	Weak transcription	Osteobl	bone
43	chr4:120517400-120519800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr4:120517600-120518200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr4:120517600-120518800	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr4:120517600-120519600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr4:120517800-120519000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr4:120517800-120519400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr4:120518000-120518400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr4:120518000-120518400	Weak transcription	HUES48 Cell Line	embryonic stem cell

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