Variant report

Variant	rs39936
Chromosome Location	chr5:127618177-127618178
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	chr5:127616622..127618564-chr5:127626677..127628253,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10036747	0.91[YRI][hapmap];0.83[AFR][1000 genomes]
rs10042349	0.90[YRI][hapmap];0.83[AFR][1000 genomes]
rs10043227	0.95[YRI][hapmap];0.81[AFR][1000 genomes]
rs10043236	0.83[YRI][hapmap]
rs10043920	0.83[YRI][hapmap]
rs10070948	0.95[YRI][hapmap];0.85[AFR][1000 genomes]
rs12656510	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs28472987	0.83[AFR][1000 genomes]
rs32207	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs32208	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs32209	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs32210	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs32211	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs32212	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs32213	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs39937	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs39939	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs41080	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs42280	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs42688	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs469913	0.83[EUR][1000 genomes]
rs6871353	0.91[YRI][hapmap];0.83[AFR][1000 genomes]
rs6883446	0.83[AFR][1000 genomes]
rs72663358	0.83[EUR][1000 genomes]
rs72663359	0.81[EUR][1000 genomes]
rs7704093	0.83[YRI][hapmap]
rs7710992	0.83[YRI][hapmap]
rs7711092	0.82[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830482	chr5:127475398-127665377	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv599697	chr5:127563563-127731210	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	nsv830483	chr5:127595570-127705124	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127589000-127670200	Weak transcription	NHDF-Ad	bronchial
2	chr5:127592800-127624400	Weak transcription	A549	lung
3	chr5:127592800-127631600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:127593800-127635200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr5:127596200-127623800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr5:127598800-127622600	Weak transcription	Fetal Intestine Large	intestine
7	chr5:127598800-127623800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr5:127599200-127622400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr5:127599200-127623000	Weak transcription	Fetal Intestine Small	intestine
10	chr5:127599400-127624200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr5:127599400-127624200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr5:127600800-127624200	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr5:127605200-127628800	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr5:127608000-127622200	Weak transcription	Fetal Lung	lung
15	chr5:127608000-127629600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr5:127612800-127622200	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr5:127612800-127662400	Weak transcription	HUVEC	blood vessel
18	chr5:127613600-127623000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr5:127613800-127622200	Weak transcription	Left Ventricle	heart
20	chr5:127614000-127620000	Weak transcription	NH-A	brain
21	chr5:127614000-127622200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr5:127614000-127623400	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr5:127614400-127622000	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr5:127614400-127635200	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr5:127614600-127619800	Weak transcription	Fetal Stomach	stomach
26	chr5:127614600-127620000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr5:127614600-127620000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr5:127614600-127620000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr5:127614600-127620200	Weak transcription	Fetal Muscle Leg	muscle
30	chr5:127614600-127621600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr5:127614600-127622800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr5:127614600-127623400	Weak transcription	Fetal Muscle Trunk	muscle
33	chr5:127614600-127623600	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr5:127614600-127644800	Weak transcription	Ovary	ovary
35	chr5:127614600-127661000	Weak transcription	Fetal Kidney	kidney
36	chr5:127614800-127622400	Weak transcription	NHEK	skin
37	chr5:127615600-127620000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr5:127616000-127618400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr5:127616000-127621600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr5:127616000-127624000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr5:127616200-127621600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr5:127616200-127622200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr5:127616600-127618400	Weak transcription	Fetal Heart	heart
44	chr5:127616600-127619400	Weak transcription	Placenta	Placenta
45	chr5:127616600-127620000	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr5:127616600-127620000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr5:127616600-127621800	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr5:127616600-127622200	Weak transcription	HMEC	breast
49	chr5:127616800-127622800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr5:127618000-127629400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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