Variant report

Variant	rs6693001
Chromosome Location	chr1:160589682-160589683
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:160589254..160593885-chr1:160595406..160601586,7	K562	blood:

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

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

rs_ID	r²[population]
rs14413	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16832097	1.00[AMR][1000 genomes]
rs16832206	1.00[AMR][1000 genomes]
rs16832213	1.00[AMR][1000 genomes]
rs16832268	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57815015	1.00[AMR][1000 genomes]
rs60822342	1.00[AMR][1000 genomes]
rs6671061	1.00[AMR][1000 genomes]
rs73014367	1.00[AMR][1000 genomes]
rs73016369	1.00[AMR][1000 genomes]
rs73016373	1.00[AMR][1000 genomes]
rs73018380	1.00[AMR][1000 genomes]
rs73018394	1.00[AMR][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	esv1829614	chr1:160465291-160595000	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv831703	chr1:160496124-160643024	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv1822379	chr1:160545332-160831143	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv831714	chr1:160581168-160776809	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160576200-160591400	Weak transcription	Spleen	Spleen
2	chr1:160576800-160591400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr1:160577000-160590800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr1:160579800-160593200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr1:160582200-160591800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
6	chr1:160584400-160589800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:160584400-160594600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr1:160584800-160591400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr1:160585200-160592400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr1:160585400-160589800	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr1:160585600-160594800	Weak transcription	K562	blood
12	chr1:160587400-160590400	Genic enhancers	Primary B cells from peripheral blood	blood
13	chr1:160587400-160598400	Genic enhancers	Fetal Thymus	thymus
14	chr1:160587800-160590800	Weak transcription	Dnd41	blood
15	chr1:160588000-160590000	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr1:160588000-160591200	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr1:160588800-160598000	Genic enhancers	Thymus	Thymus
18	chr1:160589000-160590200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
19	chr1:160589000-160590400	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr1:160589000-160592800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr1:160589000-160596600	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr1:160589200-160589800	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr1:160589200-160590000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:160589200-160591400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr1:160589400-160589800	Genic enhancers	GM12878-XiMat	blood
26	chr1:160589400-160590000	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr1:160589400-160590200	Strong transcription	Primary B cells from cord blood	blood
28	chr1:160589600-160589800	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr1:160589600-160590200	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr1:160589600-160591400	Weak transcription	Primary T cells from cord blood	blood
31	chr1:160589600-160592200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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