Variant report

Variant	rs6870343
Chromosome Location	chr5:94991047-94991048
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:94989629-94992234	K562	blood:	n/a	n/a
2	IRF1	chr5:94990720-94991140	K562	blood:	n/a	chr5:94991009-94991023 chr5:94991005-94991025 chr5:94991013-94991023 chr5:94991014-94991025 chr5:94991013-94991027 chr5:94991012-94991029 chr5:94991013-94991024
3	GATA1	chr5:94990757-94991917	PBDE	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:94977116..95012475-chr5:95055682..95079552,215	K562	blood:
2	chr5:94989853..94992111-chr5:95045492..95049790,4	K562	blood:
3	chr5:94980512..95018354-chr5:95057997..95080764,228	K562	blood:
4	chr5:94989853..94992111-chr5:95045492..95049282,3	K562	blood:
5	chr5:94984626..94986883-chr5:94989979..94992621,3	MCF-7	breast:

Variant related genes	Relation type
RFESD	TF binding region
ENSG00000250240	Chromatin interaction
ENSG00000164292	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11949257	1.00[AMR][1000 genomes]
rs11951747	1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11952880	1.00[AMR][1000 genomes]
rs11955539	1.00[AMR][1000 genomes]
rs11956137	0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs11958444	0.85[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11959023	1.00[AMR][1000 genomes]
rs11959236	1.00[MEX][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs57268622	1.00[AMR][1000 genomes]
rs58799139	1.00[AMR][1000 genomes]
rs58937956	1.00[AMR][1000 genomes]
rs59564094	1.00[AMR][1000 genomes]
rs61400254	1.00[AMR][1000 genomes]
rs61733083	1.00[AMR][1000 genomes]
rs73147985	1.00[AMR][1000 genomes]
rs73147991	1.00[AMR][1000 genomes]
rs73149618	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73149620	1.00[AMR][1000 genomes]
rs73149622	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73149644	1.00[AMR][1000 genomes]
rs73149647	1.00[AMR][1000 genomes]
rs73149655	1.00[AMR][1000 genomes]
rs73149668	1.00[AMR][1000 genomes]
rs73149677	1.00[AMR][1000 genomes]
rs73149691	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv598955	chr5:94903453-95136019	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6870343	CXCL14	trans	lymphoblastoid	seeQTL

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:94983200-95005000	Weak transcription	Left Ventricle	heart
2	chr5:94983400-95005000	Weak transcription	Placenta	Placenta
3	chr5:94983600-94999800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr5:94983600-95000000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr5:94983600-95000000	Weak transcription	Brain Hippocampus Middle	brain
6	chr5:94983600-95000200	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr5:94983600-95005000	Weak transcription	Adipose Nuclei	Adipose
8	chr5:94983800-94991200	Weak transcription	Fetal Lung	lung
9	chr5:94983800-94999800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:94983800-94999800	Weak transcription	Colon Smooth Muscle	Colon
11	chr5:94983800-95000000	Weak transcription	Stomach Smooth Muscle	stomach
12	chr5:94983800-95004800	Weak transcription	Psoas Muscle	Psoas
13	chr5:94984200-94991400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr5:94984200-94999800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr5:94984200-94999800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr5:94984200-95007800	Weak transcription	Primary hematopoietic stem cells	blood
17	chr5:94984600-94992600	Weak transcription	Duodenum Mucosa	Duodenum
18	chr5:94984600-94999800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr5:94987800-94992200	Strong transcription	Primary T cells from cord blood	blood
20	chr5:94988000-94991600	Strong transcription	Primary B cells from cord blood	blood
21	chr5:94988600-94991800	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr5:94988600-94993600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr5:94989000-94991200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr5:94989000-94991400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr5:94989000-94993200	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr5:94989000-95004800	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr5:94989200-94999800	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr5:94989400-94991200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr5:94989400-94995800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr5:94990000-94991200	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr5:94990200-94991200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr5:94990400-95000200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr5:94990800-94991200	Genic enhancers	K562	blood
34	chr5:94990800-94992000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr5:94990800-94992000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr5:94990800-94992000	Enhancers	Fetal Heart	heart
37	chr5:94991000-94991200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
38	chr5:94991000-94991400	Enhancers	Thymus	Thymus
39	chr5:94991000-94991600	Enhancers	Dnd41	blood
40	chr5:94991000-94991800	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr5:94991000-94992000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr5:94991000-94992200	Enhancers	Fetal Thymus	thymus

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