Variant report

Variant	rs255758
Chromosome Location	chr5:53311502-53311503
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	chr5:53310230..53312789-chr5:53319399..53321683,2	K562	blood:
2	chr5:53305422..53307923-chr5:53310704..53313823,3	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs156836	0.88[GIH][hapmap]
rs194281	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs255747	0.84[ASN][1000 genomes]
rs255748	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs255749	0.85[ASN][1000 genomes]
rs255750	0.81[CHB][hapmap];0.88[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs255751	0.81[CHB][hapmap];0.88[JPT][hapmap];0.85[ASN][1000 genomes]
rs255753	0.81[CHB][hapmap];0.88[JPT][hapmap];0.85[ASN][1000 genomes]
rs255754	0.81[CHB][hapmap];0.90[CHD][hapmap];0.88[JPT][hapmap];0.85[ASN][1000 genomes]
rs255760	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs273223	0.88[JPT][hapmap]
rs274362	0.81[CHB][hapmap];0.88[GIH][hapmap]
rs31127	0.94[ASW][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];0.94[GIH][hapmap];0.88[JPT][hapmap];0.93[LWK][hapmap];0.91[MEX][hapmap];0.83[MKK][hapmap];0.84[TSI][hapmap];0.82[YRI][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs31226	0.81[CHB][hapmap]
rs373284	0.81[CHB][hapmap];0.95[CHD][hapmap];0.94[GIH][hapmap];0.88[JPT][hapmap];0.91[MEX][hapmap];0.81[TSI][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs406517	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs426659	0.81[CHB][hapmap];0.90[CHD][hapmap];0.88[JPT][hapmap];0.85[ASN][1000 genomes]
rs696007	0.81[CHB][hapmap]
rs697108	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs697109	0.88[ASW][hapmap];0.95[CEU][hapmap];0.90[CHB][hapmap];0.90[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.91[MEX][hapmap];0.85[MKK][hapmap];0.97[TSI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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	nsv880713	chr5:53198059-53906103	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv830299	chr5:53207020-53386600	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
7	nsv881265	chr5:53305742-53504764	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
8	nsv880619	chr5:53305742-53525671	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
9	nsv881616	chr5:53305742-53639975	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
10	nsv881018	chr5:53305742-53744849	Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
11	nsv880734	chr5:53305742-53770217	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
12	nsv881161	chr5:53305742-53815495	Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
13	nsv881600	chr5:53305742-53823285	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
14	nsv598176	chr5:53311502-53739530	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Rheumatoid arthritis	23918589	GWAS catalog

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:53299200-53318000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr5:53305800-53311600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr5:53306000-53311800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:53306000-53313000	Weak transcription	Fetal Stomach	stomach
5	chr5:53306000-53314600	Weak transcription	Ovary	ovary
6	chr5:53306800-53314600	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr5:53307000-53311600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr5:53308200-53316000	Weak transcription	Primary B cells from cord blood	blood
9	chr5:53309600-53313000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr5:53309800-53311600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr5:53309800-53317600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr5:53310000-53317200	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr5:53310400-53312800	Weak transcription	Primary T cells from cord blood	blood
14	chr5:53310400-53318000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr5:53310600-53311800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:53310600-53311800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr5:53310600-53316000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr5:53310600-53317400	Weak transcription	Osteobl	bone
19	chr5:53310600-53318000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr5:53310600-53318000	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr5:53310600-53336000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr5:53310800-53317400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr5:53310800-53317400	Weak transcription	K562	blood
24	chr5:53310800-53318000	Weak transcription	Fetal Intestine Large	intestine
25	chr5:53311000-53313200	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr5:53311000-53317800	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr5:53311200-53314600	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr5:53311200-53317400	Weak transcription	Fetal Intestine Small	intestine
29	chr5:53311400-53311600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr5:53311400-53311800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr5:53311400-53312200	Strong transcription	Primary B cells from peripheral blood	blood
32	chr5:53311400-53313000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr5:53311400-53317200	Weak transcription	Primary T helper cells PMA-I stimulated	--

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