Variant report

Variant	rs4711498
Chromosome Location	chr6:37487674-37487675
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:37486519..37488969-chr6:37490130..37493160,3	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs1757169	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1757171	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1757173	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1757174	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1757177	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1757178	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1757180	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1757181	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1757183	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1776456	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1776460	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1776461	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs2776875	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2776877	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2776878	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2797801	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2797803	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4714072	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6903910	0.82[ASN][1000 genomes]
rs914347	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs914349	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][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
rs4711498	RP1-153P14.5	cis	lung	GTEx
rs4711498	RP1-153P14.5	cis	Whole Blood	GTEx
rs4711498	RP1-153P14.8	cis	Whole Blood	GTEx

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37486200-37487800	Enhancers	Primary T helper naive cells from peripheral blood	blood
2	chr6:37486200-37487800	Enhancers	Primary T killer memory cells from peripheral blood	blood
3	chr6:37486400-37488400	Weak transcription	Dnd41	blood
4	chr6:37486400-37488600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr6:37486400-37488600	Weak transcription	Fetal Brain Female	brain
6	chr6:37486400-37488800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr6:37486400-37490400	Enhancers	Primary T cells fromperipheralblood	blood
8	chr6:37486400-37490800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr6:37486600-37489800	Enhancers	Fetal Thymus	thymus
10	chr6:37486800-37488600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr6:37486800-37488600	Weak transcription	Fetal Brain Male	brain
12	chr6:37486800-37491400	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr6:37487200-37487800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr6:37487200-37488400	Weak transcription	Thymus	Thymus
15	chr6:37487400-37488400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr6:37487400-37488400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr6:37487400-37490800	Weak transcription	Right Atrium	heart
18	chr6:37487400-37491000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr6:37487400-37492400	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr6:37487600-37488200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr6:37487600-37488400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr6:37487600-37488400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr6:37487600-37488600	Weak transcription	Primary T cells from cord blood	blood
24	chr6:37487600-37488600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr6:37487600-37498200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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