Variant report

Variant	rs164394
Chromosome Location	chr5:68408841-68408842
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:68397308..68403256-chr5:68407006..68412772,7	K562	blood:
2	chr5:68407951..68409881-chr5:68417199..68419048,3	K562	blood:
3	chr5:68407951..68409711-chr5:68417199..68419048,2	K562	blood:

Variant related genes	Relation type
ENSG00000145740	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10056618	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs163191	0.94[ASN][1000 genomes]
rs163192	0.91[ASN][1000 genomes]
rs163193	0.94[ASN][1000 genomes]
rs163194	0.92[ASN][1000 genomes]
rs164391	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs164396	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs164572	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs164577	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs164578	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs164579	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs164580	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs164581	0.94[ASN][1000 genomes]
rs164710	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs164712	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs186790	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs187043	0.92[ASN][1000 genomes]
rs234262	0.83[AMR][1000 genomes]
rs240809	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2447794	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs337253	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs337256	0.94[ASN][1000 genomes]
rs337259	0.94[ASN][1000 genomes]
rs337262	0.94[ASN][1000 genomes]
rs338668	0.94[ASN][1000 genomes]
rs338678	0.94[ASN][1000 genomes]
rs350110	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs350111	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs350112	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs351432	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs420228	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs570884	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs688674	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9291940	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018151	chr5:68377118-68667581	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv881765	chr5:68379836-68448694	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv881766	chr5:68401941-68448694	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1035004	chr5:68405526-68670101	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68391000-68415200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr5:68391400-68415800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr5:68391400-68428800	Weak transcription	Stomach Mucosa	stomach
4	chr5:68391400-68431200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr5:68392200-68427000	Weak transcription	Fetal Heart	heart
6	chr5:68395000-68419400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr5:68395000-68428400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr5:68395400-68413200	Strong transcription	Duodenum Mucosa	Duodenum
9	chr5:68397400-68425000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr5:68397400-68426400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr5:68397600-68425000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr5:68398600-68427400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr5:68398800-68413400	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr5:68398800-68426000	Strong transcription	Adipose Nuclei	Adipose
15	chr5:68399000-68421400	Strong transcription	Osteobl	bone
16	chr5:68399000-68422600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr5:68399000-68424600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr5:68399000-68425600	Strong transcription	Fetal Thymus	thymus
19	chr5:68399000-68428200	Strong transcription	Placenta	Placenta
20	chr5:68400000-68413800	Strong transcription	Fetal Muscle Trunk	muscle
21	chr5:68400200-68431200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr5:68401600-68411600	Weak transcription	Colonic Mucosa	Colon
23	chr5:68401800-68414600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr5:68402200-68409800	Weak transcription	Esophagus	oesophagus
25	chr5:68402600-68429600	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr5:68402800-68427400	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr5:68403000-68413600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr5:68403000-68425600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr5:68403200-68411800	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr5:68403200-68414800	Weak transcription	Spleen	Spleen
31	chr5:68403600-68426400	Weak transcription	Small Intestine	intestine
32	chr5:68405800-68410200	Weak transcription	Fetal Brain Female	brain
33	chr5:68405800-68411800	Weak transcription	NHLF	lung
34	chr5:68405800-68417600	Weak transcription	Gastric	stomach
35	chr5:68405800-68421800	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr5:68406000-68409000	Weak transcription	Primary hematopoietic stem cells	blood
37	chr5:68406000-68409000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr5:68406000-68409200	Weak transcription	Stomach Smooth Muscle	stomach
39	chr5:68406000-68409800	Weak transcription	Brain Germinal Matrix	brain
40	chr5:68406000-68410800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr5:68406000-68417400	Weak transcription	Brain Substantia Nigra	brain
42	chr5:68406000-68417400	Weak transcription	Pancreas	Pancrea
43	chr5:68406000-68417600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr5:68406000-68418800	Weak transcription	Fetal Brain Male	brain
45	chr5:68406000-68419200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr5:68406000-68427400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr5:68406000-68430000	Strong transcription	Liver	Liver
48	chr5:68406200-68409000	Weak transcription	GM12878-XiMat	blood
49	chr5:68406200-68409000	Weak transcription	HSMM	muscle
50	chr5:68406200-68409600	Weak transcription	H1 Cell Line	embryonic stem cell

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