Variant report

Variant	rs34158516
Chromosome Location	chr5:112919000-112919001
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:112850115..112851621-chr5:112917619..112919519,2	K562	blood:
2	chr5:112917130..112919077-chr5:112922484..112924889,2	K562	blood:

Extended variants
information (count: 76 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10037429	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10072577	1.00[ASN][1000 genomes]
rs1035409	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11739848	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11744710	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11744737	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11745445	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11746529	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11746565	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11747062	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11953034	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13153791	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13160021	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13161610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13161969	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13166822	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13167659	1.00[ASN][1000 genomes]
rs13170908	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13171273	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13171389	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13172774	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13180262	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13187776	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs164252	0.83[AMR][1000 genomes]
rs17332053	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17333442	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs182988	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2860483	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2910017	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2914151	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2914152	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34161832	0.85[AFR][1000 genomes]
rs34554590	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34870059	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs348919	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs348921	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs348922	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs348923	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs348934	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs348935	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs348939	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35077609	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35274088	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35364742	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3763141	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs414475	0.82[ASN][1000 genomes]
rs419483	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs421515	0.82[ASN][1000 genomes]
rs4410636	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs446272	0.82[ASN][1000 genomes]
rs458055	0.82[ASN][1000 genomes]
rs4705554	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4705829	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58479323	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59007160	0.81[AFR][1000 genomes]
rs59757131	0.86[AFR][1000 genomes]
rs6594727	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs66838021	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67382821	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67881502	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs68131815	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71577453	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7703186	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7705255	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7729214	0.86[AFR][1000 genomes]
rs7736165	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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
5	esv3433551	chr5:112915953-112919951	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv2752057	chr5:112916398-112945992	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
7	nsv1029507	chr5:112916398-112945992	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
8	esv2763910	chr5:112916398-112951827	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
9	nsv1031336	chr5:112916398-112956588	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
10	esv3367549	chr5:112916403-112920101	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 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	chr5:112889400-112930600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr5:112898200-112921200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr5:112899400-112929400	Weak transcription	HepG2	liver
7	chr5:112904600-112934800	Weak transcription	Psoas Muscle	Psoas
8	chr5:112907400-112932000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr5:112908800-112935200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr5:112910600-112919800	Weak transcription	NHDF-Ad	bronchial
11	chr5:112910600-112920000	Weak transcription	Brain Anterior Caudate	brain
12	chr5:112910600-112927000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr5:112910600-112927600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr5:112910600-112927800	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr5:112910600-112933400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr5:112910600-112935200	Weak transcription	Spleen	Spleen
17	chr5:112910600-112935400	Weak transcription	Colon Smooth Muscle	Colon
18	chr5:112910600-112936600	Weak transcription	Colonic Mucosa	Colon
19	chr5:112910600-112942000	Weak transcription	Brain Substantia Nigra	brain
20	chr5:112910800-112919800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr5:112910800-112919800	Weak transcription	HMEC	breast
22	chr5:112910800-112920000	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr5:112910800-112924400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr5:112910800-112927600	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr5:112910800-112928400	Weak transcription	A549	lung
26	chr5:112910800-112928600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr5:112910800-112929200	Weak transcription	Right Ventricle	heart
28	chr5:112910800-112929400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr5:112910800-112930400	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr5:112910800-112933600	Weak transcription	Brain Cingulate Gyrus	brain
31	chr5:112910800-112933600	Weak transcription	Fetal Stomach	stomach
32	chr5:112910800-112934600	Weak transcription	Gastric	stomach
33	chr5:112910800-112935000	Weak transcription	Pancreas	Pancrea
34	chr5:112910800-112935200	Weak transcription	Esophagus	oesophagus
35	chr5:112910800-112937400	Weak transcription	Fetal Intestine Small	intestine
36	chr5:112910800-112938200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr5:112910800-112942200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr5:112911000-112930000	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr5:112911200-112925400	Weak transcription	Brain Germinal Matrix	brain
40	chr5:112911200-112929000	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr5:112913800-112920800	Strong transcription	Primary B cells from peripheral blood	blood
42	chr5:112914000-112922200	Strong transcription	Dnd41	blood
43	chr5:112915200-112922200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr5:112915200-112922200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr5:112915200-112922200	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr5:112915400-112921400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr5:112915600-112920600	Strong transcription	Primary B cells from cord blood	blood
48	chr5:112916000-112931400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr5:112916200-112920000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr5:112916200-112920000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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