Variant report

Variant	rs4714070
Chromosome Location	chr6:37473198-37473199
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:37454885..37456493-chr6:37473067..37475104,2	K562	blood:
2	chr6:37470444..37471961-chr6:37472743..37474694,2	K562	blood:
3	chr6:37467472..37470201-chr6:37470249..37474536,6	K562	blood:
4	chr6:37465129..37468666-chr6:37470017..37474659,10	K562	blood:
5	chr6:37465889..37467468-chr6:37472296..37474310,2	K562	blood:

Variant related genes	Relation type
ENSG00000198937	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10807184	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10947675	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11756241	0.91[CEU][hapmap];0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12200378	0.84[EUR][1000 genomes]
rs12202055	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs12202664	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12211110	0.92[CEU][hapmap];0.81[CHB][hapmap];0.90[JPT][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1757188	0.89[JPT][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1757189	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1757191	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1776454	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1776455	0.89[JPT][hapmap];0.81[EUR][1000 genomes]
rs1874736	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2270687	0.92[CEU][hapmap];0.81[CHB][hapmap];0.90[JPT][hapmap];0.87[EUR][1000 genomes]
rs2776870	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2776872	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2776874	0.89[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2797795	0.81[AMR][1000 genomes]
rs2797796	0.81[AMR][1000 genomes]
rs2797798	0.81[EUR][1000 genomes]
rs2797799	0.90[JPT][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3818985	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs4714068	0.92[CEU][hapmap];0.81[CHB][hapmap];0.90[JPT][hapmap];0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4714071	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62406510	0.85[EUR][1000 genomes]
rs62408367	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs6921922	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs882322	0.90[JPT][hapmap]
rs9349039	0.81[AMR][1000 genomes]
rs9366935	0.81[AMR][1000 genomes]
rs9369005	0.89[JPT][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9380673	0.87[EUR][1000 genomes]
rs9380677	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752124	chr6:37416219-37680622	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv1016310	chr6:37473075-37528469	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4714070	RP1-153P14.8	cis	Whole Blood	GTEx
rs4714070	RP1-153P14.5	cis	Whole Blood	GTEx
rs4714070	RP1-153P14.5	cis	lung	GTEx

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37468000-37473600	Enhancers	Primary B cells from peripheral blood	blood
2	chr6:37468000-37475800	Enhancers	Thymus	Thymus
3	chr6:37468000-37477200	Enhancers	Primary T cells fromperipheralblood	blood
4	chr6:37468000-37483600	Enhancers	Fetal Thymus	thymus
5	chr6:37468200-37474200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr6:37468200-37476000	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr6:37468400-37475000	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr6:37468600-37473200	Enhancers	Primary hematopoietic stem cells	blood
9	chr6:37468800-37473600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr6:37469400-37473200	Enhancers	Primary B cells from cord blood	blood
11	chr6:37470600-37473600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr6:37470600-37474400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr6:37470600-37477000	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr6:37471000-37473600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
15	chr6:37471000-37474600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr6:37471000-37475800	Enhancers	Primary T cells from cord blood	blood
17	chr6:37471000-37476000	Weak transcription	Duodenum Mucosa	Duodenum
18	chr6:37471200-37476000	Weak transcription	Dnd41	blood
19	chr6:37471200-37477800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr6:37471200-37483600	Weak transcription	Spleen	Spleen
21	chr6:37471400-37474000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr6:37471400-37475800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr6:37471800-37476000	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr6:37472000-37475000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr6:37472000-37476000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr6:37472200-37475800	Weak transcription	GM12878-XiMat	blood
27	chr6:37472400-37476000	Weak transcription	Fetal Kidney	kidney
28	chr6:37472800-37475800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr6:37472800-37476000	Enhancers	Primary T helper naive cells from peripheral blood	blood

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