Variant report

Variant	rs748374
Chromosome Location	chr7:50268043-50268044
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	chr7:50257452..50260269-chr7:50267276..50269826,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1026423	0.88[ASN][1000 genomes]
rs12669163	0.96[ASN][1000 genomes]
rs12718257	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1456893	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1456895	0.96[ASN][1000 genomes]
rs1456896	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2124799	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2168589	0.84[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2168593	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2219345	0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4244229	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4917127	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4917130	0.91[ASN][1000 genomes]
rs6583435	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs921913	0.96[ASN][1000 genomes]
rs921914	0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.82[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs9649710	0.92[ASN][1000 genomes]
rs9656588	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs981132	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv464444	chr7:49671882-50454736	Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv606897	chr7:49671883-50454736	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv498090	chr7:49708644-50427714	Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1020869	chr7:49712860-50457544	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1024102	chr7:50195864-50418159	Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50265400-50268600	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr7:50265400-50268600	Enhancers	Primary T cells from cord blood	blood
3	chr7:50265600-50268600	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr7:50265800-50268600	Enhancers	Fetal Thymus	thymus
5	chr7:50266200-50268200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
6	chr7:50266400-50268600	Enhancers	Thymus	Thymus
7	chr7:50266400-50269000	Enhancers	Dnd41	blood
8	chr7:50266600-50268200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr7:50267200-50268200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
10	chr7:50267200-50268200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr7:50267200-50268400	Enhancers	Primary B cells from cord blood	blood
12	chr7:50267400-50268200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr7:50267600-50268200	Flanking Active TSS	Primary hematopoietic stem cells	blood
14	chr7:50267600-50268200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
15	chr7:50267600-50268600	Enhancers	Primary T cells fromperipheralblood	blood
16	chr7:50267800-50268200	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr7:50267800-50268200	Active TSS	Brain Cingulate Gyrus	brain
18	chr7:50267800-50268600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr7:50268000-50268600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr7:50268000-50268600	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr7:50268000-50268600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr7:50268000-50268800	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr7:50268000-50269000	Enhancers	Primary T helper cells PMA-I stimulated	--

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