Variant report

Variant	rs6594736
Chromosome Location	chr5:112911439-112911440
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:112910971..112913788-chr5:112914677..112918901,4	K562	blood:
2	chr5:112911409..112913819-chr5:112914953..112918122,3	K562	blood:

Variant related genes	Relation type
ENSG00000047188	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10071966	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1035408	0.87[EUR][1000 genomes]
rs1132528	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11957650	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12659978	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs164251	0.82[EUR][1000 genomes]
rs171181	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1820056	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs182987	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs190453	0.82[EUR][1000 genomes]
rs2303717	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2431548	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2434664	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs2434665	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs27700	0.82[EUR][1000 genomes]
rs2910018	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2914153	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs348927	0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs348933	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs348949	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs348950	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs348953	0.85[AFR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3763139	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3936062	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs406288	0.82[EUR][1000 genomes]
rs423089	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs4235796	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4415069	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4438867	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4444963	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs459428	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs461034	0.80[EUR][1000 genomes]
rs463216	0.82[EUR][1000 genomes]
rs4639215	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs465898	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4705830	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4705831	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57617774	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62373764	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs66534827	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs675353	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs6881976	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6886338	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7702405	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7703233	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7713378	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9326895	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9552	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9885084	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[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	nsv882721	chr5:112859994-112963488	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
2	nsv882724	chr5:112868878-112933202	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
3	nsv1033202	chr5:112891857-112945992	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
4	nsv520674	chr5:112911165-112942820	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112867400-112926000	Weak transcription	Small Intestine	intestine
2	chr5:112867400-112933000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr5:112870200-112930800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr5:112872000-112915000	Weak transcription	Hela-S3	cervix
5	chr5:112876000-112918800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr5:112889400-112930600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr5:112890600-112915800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr5:112891600-112912600	Weak transcription	Stomach Mucosa	stomach
9	chr5:112892800-112915000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr5:112894400-112911800	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr5:112898200-112921200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr5:112899400-112929400	Weak transcription	HepG2	liver
13	chr5:112900400-112915800	Weak transcription	HUVEC	blood vessel
14	chr5:112901000-112911800	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr5:112901400-112911600	Strong transcription	Adipose Nuclei	Adipose
16	chr5:112902200-112911600	Strong transcription	Primary B cells from cord blood	blood
17	chr5:112903000-112917000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr5:112904400-112917200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr5:112904600-112934800	Weak transcription	Psoas Muscle	Psoas
20	chr5:112904800-112916200	Weak transcription	Fetal Heart	heart
21	chr5:112907200-112915600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr5:112907400-112915600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr5:112907400-112932000	Weak transcription	Rectal Smooth Muscle	rectum
24	chr5:112908800-112916000	Weak transcription	Fetal Brain Male	brain
25	chr5:112908800-112935200	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr5:112909000-112911800	Strong transcription	Primary T cells from cord blood	blood
27	chr5:112909200-112912000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr5:112909400-112912200	Strong transcription	Liver	Liver
29	chr5:112909600-112911600	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr5:112909600-112915600	Weak transcription	Fetal Kidney	kidney
31	chr5:112910000-112911800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr5:112910200-112915600	Weak transcription	NHLF	lung
33	chr5:112910400-112915600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr5:112910400-112917200	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr5:112910600-112912400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr5:112910600-112915200	Weak transcription	HSMM	muscle
37	chr5:112910600-112915200	Weak transcription	K562	blood
38	chr5:112910600-112915600	Weak transcription	Placenta	Placenta
39	chr5:112910600-112915800	Weak transcription	Brain Hippocampus Middle	brain
40	chr5:112910600-112915800	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr5:112910600-112916400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr5:112910600-112917000	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr5:112910600-112917000	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr5:112910600-112917000	Weak transcription	Brain Angular Gyrus	brain
45	chr5:112910600-112919800	Weak transcription	NHDF-Ad	bronchial
46	chr5:112910600-112920000	Weak transcription	Brain Anterior Caudate	brain
47	chr5:112910600-112927000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr5:112910600-112927600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr5:112910600-112927800	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr5:112910600-112933400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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