Variant report

Variant	rs2228149
Chromosome Location	chr10:6063508-6063509
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF274	chr10:6063322-6063823	Hela-S3	cervix:	n/a	n/a
2	CTCF	chr10:6063440-6063590	K562	blood:	n/a	n/a
3	NR2F2	chr10:6063436-6063624	K562	blood:	n/a	n/a
4	RCOR1	chr10:6063440-6063648	K562	blood:	n/a	n/a
5	TAL1	chr10:6063479-6063681	K562	blood:	n/a	n/a
6	KAP1	chr10:6063325-6063790	K562	blood:	n/a	n/a
7	ZNF274	chr10:6063332-6063724	NT2-D1	testis:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:6051578..6054248-chr10:6061893..6064175,2	K562	blood:
2	chr10:6056224..6059650-chr10:6062911..6065647,3	MCF-7	breast:
3	chr10:6059419..6064322-chr10:6065224..6067534,4	K562	blood:
4	chr10:6062258..6063971-chr10:6130127..6132844,2	MCF-7	breast:
5	chr10:6060947..6063701-chr10:6181512..6183483,2	K562	blood:
6	chr10:6055685..6057860-chr10:6061812..6063688,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000251922	TF binding region
ENSG00000229664	TF binding region
ENSG00000251922	Chromatin interaction
ENSG00000134453	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12722492	0.82[AMR][1000 genomes]
rs12722494	0.84[AMR][1000 genomes]
rs12722498	0.80[AMR][1000 genomes]
rs12722503	0.86[AMR][1000 genomes]
rs12722528	0.89[AMR][1000 genomes]
rs12722608	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1924137	0.82[AMR][1000 genomes]
rs2274037	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41294647	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs41294685	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41294927	0.82[AMR][1000 genomes]
rs62626324	0.80[AMR][1000 genomes]
rs72776071	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34147	chr10:5726821-6105717	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv34061	chr10:5726821-6225187	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1042286	chr10:5795129-6578445	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	nsv525927	chr10:6059898-6078079	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:6057000-6066000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr10:6057400-6068600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr10:6057800-6064400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr10:6057800-6069600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr10:6057800-6069800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr10:6058000-6068600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr10:6059400-6068800	Strong transcription	Primary T helper cells PMA-I stimulated	--
8	chr10:6060000-6065600	Weak transcription	Esophagus	oesophagus
9	chr10:6060400-6070000	Weak transcription	Lung	lung
10	chr10:6060800-6064400	Weak transcription	Right Atrium	heart
11	chr10:6060800-6075800	Weak transcription	Colon Smooth Muscle	Colon
12	chr10:6061200-6070000	Weak transcription	Spleen	Spleen
13	chr10:6061800-6065800	Weak transcription	Gastric	stomach
14	chr10:6062800-6064200	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr10:6062800-6067800	Strong transcription	Primary B cells from peripheral blood	blood
16	chr10:6063000-6063600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr10:6063000-6063800	Enhancers	K562	blood
18	chr10:6063000-6067400	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr10:6063000-6068400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr10:6063200-6066600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr10:6063200-6067000	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr10:6063400-6063600	Enhancers	Fetal Muscle Leg	muscle
23	chr10:6063400-6063800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
24	chr10:6063400-6064600	Enhancers	Brain Anterior Caudate	brain
25	chr10:6063400-6065000	Enhancers	Placenta	Placenta

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