Variant report

Variant	rs71628184
Chromosome Location	chr1:160596935-160596936
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:160582996..160585216-chr1:160596637..160598593,2	K562	blood:
2	chr1:160595017..160597618-chr1:160601795..160605267,3	K562	blood:
3	chr1:160589254..160593885-chr1:160595406..160601586,7	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12058421	1.00[ASN][1000 genomes]
rs34338384	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34378534	1.00[AFR][1000 genomes]
rs3796504	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66847543	1.00[AFR][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	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
2	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
3	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:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160587400-160598400	Genic enhancers	Fetal Thymus	thymus
2	chr1:160588800-160598000	Genic enhancers	Thymus	Thymus
3	chr1:160589800-160599400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr1:160590800-160598000	Enhancers	Dnd41	blood
5	chr1:160591800-160605200	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
6	chr1:160592800-160601400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:160593800-160598400	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr1:160594000-160599400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr1:160594600-160598400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr1:160594600-160601200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr1:160595000-160597800	Enhancers	Spleen	Spleen
12	chr1:160595000-160601400	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr1:160595200-160597000	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr1:160595200-160597000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr1:160595200-160597200	Enhancers	Primary B cells from cord blood	blood
16	chr1:160595200-160597200	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr1:160595200-160597400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:160595200-160598000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:160595400-160597400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:160595400-160598200	Enhancers	Primary hematopoietic stem cells	blood
21	chr1:160595400-160611000	Genic enhancers	Primary B cells from peripheral blood	blood
22	chr1:160595600-160597000	Enhancers	Primary T cells from cord blood	blood
23	chr1:160595600-160597600	Enhancers	Duodenum Mucosa	Duodenum
24	chr1:160595600-160600000	Weak transcription	Small Intestine	intestine
25	chr1:160596000-160597200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
26	chr1:160596000-160598600	Enhancers	Primary T cells fromperipheralblood	blood
27	chr1:160596200-160597000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
28	chr1:160596200-160597200	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
29	chr1:160596200-160597400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
30	chr1:160596200-160598400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
31	chr1:160596400-160598200	Enhancers	K562	blood
32	chr1:160596400-160598800	Weak transcription	Fetal Muscle Trunk	muscle
33	chr1:160596600-160597200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
34	chr1:160596600-160597200	Transcr. at gene 5' and 3'	Primary T helper memory cells from peripheral blood 1	blood
35	chr1:160596800-160597000	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr1:160596800-160597200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr1:160596800-160597200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
38	chr1:160596800-160598600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr1:160596800-160598600	Weak transcription	Placenta	Placenta
40	chr1:160596800-160598600	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr1:160596800-160604000	Weak transcription	Lung	lung
42	chr1:160596800-160608400	Weak transcription	Rectal Mucosa Donor 31	rectum

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