Variant report

Variant	rs57975772
Chromosome Location	chr1:160673348-160673349
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	chr1:160672794..160675348-chr1:161062304..161065279,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10908797	1.00[ASN][1000 genomes]
rs11802999	1.00[ASN][1000 genomes]
rs2295615	0.89[ASN][1000 genomes]
rs34545274	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs535668	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs554288	0.85[ASN][1000 genomes]
rs55857101	0.94[ASN][1000 genomes]
rs57724190	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9628658	0.85[EUR][1000 genomes]
rs978763	0.97[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	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
2	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
3	nsv437213	chr1:160652730-160681836	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
4	nsv428532	chr1:160671125-160767708	Flanking Active TSS Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160655200-160673600	Weak transcription	Spleen	Spleen
2	chr1:160666000-160673800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr1:160669200-160673400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
4	chr1:160669200-160674400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr1:160669200-160674800	Genic enhancers	Primary T cells from cord blood	blood
6	chr1:160669200-160675800	Genic enhancers	Primary T cells fromperipheralblood	blood
7	chr1:160669800-160673600	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr1:160669800-160674200	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr1:160670400-160676600	Genic enhancers	Primary B cells from peripheral blood	blood
10	chr1:160671000-160673800	Genic enhancers	Primary monocytes fromperipheralblood	blood
11	chr1:160671000-160675600	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr1:160671200-160673400	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr1:160671200-160673400	Strong transcription	Thymus	Thymus
14	chr1:160671200-160673600	Strong transcription	Fetal Thymus	thymus
15	chr1:160671200-160675400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr1:160671400-160674200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
17	chr1:160671400-160675800	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
18	chr1:160671600-160673800	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
19	chr1:160672000-160673400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr1:160672000-160673600	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr1:160672000-160674600	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
22	chr1:160672200-160673400	Enhancers	Primary B cells from cord blood	blood
23	chr1:160672400-160673400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr1:160672600-160675000	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr1:160672800-160675000	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr1:160673000-160673400	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr1:160673000-160675200	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr1:160673000-160676400	Genic enhancers	Dnd41	blood
29	chr1:160673000-160681200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:160673200-160673600	Enhancers	H1 Cell Line	embryonic stem cell
31	chr1:160673200-160673600	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr1:160673200-160673800	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr1:160673200-160673800	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr1:160673200-160674200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr1:160673200-160674400	Enhancers	Duodenum Mucosa	Duodenum
36	chr1:160673200-160675200	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr1:160673200-160675600	Enhancers	Primary hematopoietic stem cells	blood
38	chr1:160673200-160676000	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--

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