Variant report

Variant	rs517906
Chromosome Location	chr1:160664076-160664077
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:160663334-160664401	GM12878	blood:	n/a	n/a
2	POLR2A	chr1:160663957-160664171	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000227239	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs352696	0.82[EUR][1000 genomes]
rs352697	0.82[EUR][1000 genomes]
rs352698	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs485971	0.82[EUR][1000 genomes]
rs511799	0.81[EUR][1000 genomes]
rs530054	0.81[EUR][1000 genomes]
rs548742	0.83[AMR][1000 genomes]
rs573326	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160654200-160671000	Weak transcription	Small Intestine	intestine
2	chr1:160655200-160673600	Weak transcription	Spleen	Spleen
3	chr1:160656200-160672000	Weak transcription	Dnd41	blood
4	chr1:160657800-160664200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr1:160659400-160664600	Enhancers	Primary T killer memory cells from peripheral blood	blood
6	chr1:160660400-160670400	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr1:160660400-160671200	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr1:160660400-160671200	Weak transcription	Thymus	Thymus
9	chr1:160660400-160671600	Weak transcription	Primary B cells from cord blood	blood
10	chr1:160661200-160664400	Genic enhancers	Primary T cells fromperipheralblood	blood
11	chr1:160661800-160664400	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr1:160662000-160666200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr1:160662000-160666400	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr1:160662000-160671000	Weak transcription	GM12878-XiMat	blood
15	chr1:160662000-160671200	Weak transcription	Fetal Thymus	thymus
16	chr1:160662200-160672000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr1:160662400-160664200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr1:160662400-160664200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr1:160662400-160665000	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr1:160662400-160668400	Weak transcription	Primary B cells from peripheral blood	blood
21	chr1:160662400-160669200	Weak transcription	Primary T cells from cord blood	blood
22	chr1:160662400-160669200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr1:160662400-160670000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr1:160662400-160672000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr1:160662600-160669200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr1:160662600-160669200	Weak transcription	Duodenum Mucosa	Duodenum
27	chr1:160662600-160670000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr1:160664000-160664600	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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