Variant report

Variant	rs37539
Chromosome Location	chr5:53179771-53179772
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1027210	0.88[GIH][hapmap]
rs175248	1.00[EUR][1000 genomes]
rs1979646	1.00[EUR][1000 genomes]
rs1979647	1.00[EUR][1000 genomes]
rs1981842	1.00[EUR][1000 genomes]
rs199609	0.97[ASN][1000 genomes]
rs2042313	0.85[GIH][hapmap];1.00[EUR][1000 genomes]
rs271207	1.00[EUR][1000 genomes]
rs271208	0.94[GIH][hapmap];1.00[EUR][1000 genomes]
rs271243	0.84[ASW][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.83[LWK][hapmap];0.93[MKK][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs271245	1.00[GIH][hapmap];0.81[JPT][hapmap];1.00[EUR][1000 genomes]
rs271250	0.81[JPT][hapmap];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs271257	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs271259	0.88[ASN][1000 genomes]
rs271261	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs37540	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3776740	1.00[EUR][1000 genomes]
rs3797287	1.00[EUR][1000 genomes]
rs3797290	1.00[EUR][1000 genomes]
rs40211	0.91[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.81[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs40212	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6450173	1.00[EUR][1000 genomes]
rs7733347	0.88[GIH][hapmap];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752745	chr5:52422063-53343529	Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1032632	chr5:52667145-53655624	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1032504	chr5:52908394-53398435	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv537763	chr5:52908394-53398435	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv830298	chr5:52973912-53193398	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv533778	chr5:53092696-53284566	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:53170200-53181800	Weak transcription	Spleen	Spleen
2	chr5:53173800-53227800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr5:53174200-53186400	Weak transcription	Left Ventricle	heart
4	chr5:53174400-53211000	Weak transcription	K562	blood
5	chr5:53175400-53183400	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr5:53175400-53186400	Weak transcription	Primary T cells from cord blood	blood
7	chr5:53176000-53187200	Weak transcription	Esophagus	oesophagus
8	chr5:53176600-53180800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr5:53176600-53189000	Weak transcription	Fetal Intestine Large	intestine
10	chr5:53176600-53190400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr5:53176800-53181000	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr5:53177000-53212800	Weak transcription	Fetal Intestine Small	intestine
13	chr5:53177200-53180800	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr5:53177400-53181000	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr5:53177400-53188600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr5:53177600-53180800	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr5:53177600-53182400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:53177600-53189000	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr5:53178000-53181000	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr5:53178000-53190800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr5:53178400-53190800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr5:53178600-53179800	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr5:53178600-53180200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr5:53178800-53180400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr5:53178800-53180400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr5:53178800-53180800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr5:53178800-53186600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr5:53179000-53180200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr5:53179000-53180400	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr5:53179000-53180400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr5:53179000-53180400	Weak transcription	HSMMtube	muscle
32	chr5:53179200-53179800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr5:53179200-53179800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr5:53179200-53179800	Enhancers	Fetal Brain Female	brain
35	chr5:53179200-53180200	Weak transcription	NHDF-Ad	bronchial
36	chr5:53179200-53180400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr5:53179200-53180400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr5:53179200-53180400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr5:53179200-53181400	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr5:53179200-53183200	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr5:53179200-53186400	Weak transcription	NHLF	lung
42	chr5:53179200-53187200	Weak transcription	Lung	lung
43	chr5:53179400-53182600	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr5:53179600-53180000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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