Variant report

Variant	rs271243
Chromosome Location	chr5:53186783-53186784
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:53180960..53183222-chr5:53185896..53187488,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1027210	0.88[GIH][hapmap]
rs175248	0.83[CHB][hapmap];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1979646	1.00[EUR][1000 genomes]
rs1979647	1.00[EUR][1000 genomes]
rs1981842	1.00[EUR][1000 genomes]
rs2042313	0.85[GIH][hapmap];1.00[EUR][1000 genomes]
rs271207	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs271208	0.83[CHB][hapmap];0.86[CHD][hapmap];0.94[GIH][hapmap];1.00[EUR][1000 genomes]
rs271245	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs271250	1.00[EUR][1000 genomes]
rs271257	1.00[EUR][1000 genomes]
rs271261	1.00[EUR][1000 genomes]
rs37539	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs37540	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs3776740	1.00[EUR][1000 genomes]
rs3797287	1.00[EUR][1000 genomes]
rs3797290	1.00[EUR][1000 genomes]
rs40211	0.82[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[EUR][1000 genomes]
rs40212	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6450173	1.00[EUR][1000 genomes];0.80[ASN][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:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:53173800-53227800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr5:53174400-53211000	Weak transcription	K562	blood
3	chr5:53176000-53187200	Weak transcription	Esophagus	oesophagus
4	chr5:53176600-53189000	Weak transcription	Fetal Intestine Large	intestine
5	chr5:53176600-53190400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr5:53177000-53212800	Weak transcription	Fetal Intestine Small	intestine
7	chr5:53177400-53188600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr5:53177600-53189000	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr5:53178000-53190800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr5:53178400-53190800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr5:53179200-53187200	Weak transcription	Lung	lung
12	chr5:53180000-53187400	Weak transcription	Fetal Stomach	stomach
13	chr5:53180000-53194200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr5:53180800-53187000	Weak transcription	Duodenum Mucosa	Duodenum
15	chr5:53182600-53187800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr5:53183000-53188200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr5:53186200-53188000	Enhancers	Fetal Heart	heart
18	chr5:53186400-53187400	Enhancers	NHLF	lung
19	chr5:53186400-53187600	Strong transcription	Primary T cells from cord blood	blood
20	chr5:53186400-53187600	Enhancers	Fetal Lung	lung
21	chr5:53186400-53187800	Enhancers	Fetal Muscle Leg	muscle
22	chr5:53186400-53187800	Enhancers	Left Ventricle	heart
23	chr5:53186400-53187800	Enhancers	Right Ventricle	heart
24	chr5:53186400-53188400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr5:53186600-53186800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr5:53186600-53186800	Enhancers	Pancreas	Pancrea
27	chr5:53186600-53187400	Enhancers	Colon Smooth Muscle	Colon
28	chr5:53186600-53187600	Enhancers	Right Atrium	heart
29	chr5:53186600-53187600	Enhancers	HSMMtube	muscle
30	chr5:53186600-53187800	Enhancers	Skeletal Muscle Female	skeletal muscle

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