Variant report

Variant	rs2506048
Chromosome Location	chr1:194258816-194258817
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1018626	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10754097	1.00[ASN][1000 genomes]
rs10801296	1.00[ASN][1000 genomes]
rs11801405	1.00[CHB][hapmap]
rs12049429	1.00[ASN][1000 genomes]
rs1325428	1.00[ASN][1000 genomes]
rs2477610	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3898197	1.00[CHB][hapmap]
rs4130301	1.00[CHB][hapmap]
rs4345789	1.00[ASN][1000 genomes]
rs4576645	1.00[ASN][1000 genomes]
rs6650088	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs7517770	1.00[ASN][1000 genomes]
rs7552792	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008266	chr1:193550185-194481053	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv872834	chr1:193889533-194482304	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1001872	chr1:194030479-194288016	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1004338	chr1:194143315-194381135	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv872838	chr1:194206338-194412218	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv872839	chr1:194206338-194420305	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv872840	chr1:194221509-194320639	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv872841	chr1:194221509-194329561	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv872842	chr1:194221509-194334907	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv872843	chr1:194221509-194506982	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv872844	chr1:194232033-194364661	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv467027	chr1:194251821-194308202	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
13	nsv548666	chr1:194251821-194308202	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:194256800-194259000	Active TSS	Thymus	Thymus
2	chr1:194258000-194259000	Active TSS	Primary T cells fromperipheralblood	blood
3	chr1:194258000-194259000	Active TSS	Duodenum Mucosa	Duodenum
4	chr1:194258000-194259200	Flanking Active TSS	Primary T cells from cord blood	blood
5	chr1:194258000-194260200	Enhancers	Primary B cells from cord blood	blood
6	chr1:194258400-194259000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
7	chr1:194258400-194259200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr1:194258400-194259400	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr1:194258400-194260600	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr1:194258600-194259000	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr1:194258600-194259000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr1:194258600-194259000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
13	chr1:194258600-194259000	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr1:194258600-194259200	Enhancers	H1 Cell Line	embryonic stem cell
15	chr1:194258600-194259200	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr1:194258600-194259200	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr1:194258600-194259200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:194258600-194259200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
19	chr1:194258600-194259200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr1:194258600-194259200	Enhancers	Dnd41	blood
21	chr1:194258600-194259400	Enhancers	Primary B cells from peripheral blood	blood
22	chr1:194258600-194259400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:194258600-194259600	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr1:194258600-194260400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr1:194258600-194260800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr1:194258800-194259000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr1:194258800-194259000	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr1:194258800-194259200	Enhancers	Small Intestine	intestine
29	chr1:194258800-194259400	Enhancers	GM12878-XiMat	blood
30	chr1:194258800-194260600	Enhancers	Fetal Thymus	thymus

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