Variant report

Variant	rs351375
Chromosome Location	chr1:212426218-212426219
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:212424523..212427087-chr1:212457087..212458716,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs351395	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs351397	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs351404	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs351405	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs351416	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs351420	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4951584	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[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	nsv999738	chr1:212218618-212513690	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1009376	chr1:212292357-212680320	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
4	nsv997629	chr1:212404489-212658785	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv535286	chr1:212404489-212658785	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212416600-212430000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:212418200-212428400	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr1:212421600-212428400	Weak transcription	Right Ventricle	heart
4	chr1:212421800-212427600	Weak transcription	Liver	Liver
5	chr1:212423600-212431200	Enhancers	Primary T cells fromperipheralblood	blood
6	chr1:212424000-212427400	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr1:212424200-212428200	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr1:212424200-212428600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr1:212424200-212429000	Weak transcription	Stomach Mucosa	stomach
10	chr1:212424400-212427400	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr1:212424400-212430800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr1:212424400-212431200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr1:212424600-212431000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr1:212425000-212427600	Enhancers	Primary T cells from cord blood	blood
15	chr1:212425000-212428200	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr1:212425000-212428200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr1:212425200-212427600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr1:212425200-212428200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr1:212425400-212427600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr1:212425600-212428000	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr1:212425800-212426400	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr1:212425800-212426600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr1:212425800-212427200	Weak transcription	Primary B cells from cord blood	blood
24	chr1:212425800-212427200	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr1:212425800-212427600	Enhancers	Dnd41	blood
26	chr1:212426200-212427400	Weak transcription	HepG2	liver

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