Variant report

Variant	rs7543171
Chromosome Location	chr1:168505133-168505134
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:168486143..168488411-chr1:168503326..168505686,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1123864	0.84[ASN][1000 genomes]
rs12021763	0.84[ASN][1000 genomes]
rs12046909	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12049040	0.84[ASN][1000 genomes]
rs12409982	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12568619	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1323532	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1933114	0.81[ASN][1000 genomes]
rs1998510	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34328291	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs3820405	0.81[ASN][1000 genomes]
rs3820411	0.88[AMR][1000 genomes]
rs3982407	0.81[ASN][1000 genomes]
rs3982408	0.82[ASN][1000 genomes]
rs4656599	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4656601	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs475361	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs61801329	0.81[AMR][1000 genomes]
rs7518740	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014626	chr1:168441288-168642731	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv535196	chr1:168441288-168642731	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1011821	chr1:168441488-168642592	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv535197	chr1:168441488-168642592	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1008852	chr1:168449940-168643905	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv535198	chr1:168449940-168643905	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv1007846	chr1:168449940-168687265	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv869415	chr1:168467284-169153863	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168502000-168506400	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr1:168502600-168506400	Enhancers	Primary hematopoietic stem cells	blood
3	chr1:168502800-168506000	Enhancers	Dnd41	blood
4	chr1:168502800-168506200	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr1:168503000-168506400	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr1:168503400-168505400	Enhancers	Primary T cells fromperipheralblood	blood
7	chr1:168504000-168505200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
8	chr1:168504000-168505400	Enhancers	Fetal Thymus	thymus
9	chr1:168504200-168505400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
10	chr1:168504200-168505600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:168504200-168506200	Enhancers	Thymus	Thymus
12	chr1:168504400-168505200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr1:168504400-168505400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
14	chr1:168504600-168505200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
15	chr1:168504600-168505200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
16	chr1:168504800-168505200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr1:168504800-168505200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
18	chr1:168504800-168505200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
19	chr1:168504800-168505200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr1:168504800-168505200	Enhancers	GM12878-XiMat	blood
21	chr1:168504800-168506400	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr1:168504800-168509800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr1:168505000-168505200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
24	chr1:168505000-168505400	Flanking Active TSS	Primary B cells from cord blood	blood
25	chr1:168505000-168505400	Flanking Active TSS	Primary T cells from cord blood	blood
26	chr1:168505000-168505400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
27	chr1:168505000-168505400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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