Variant report

Variant	rs74124348
Chromosome Location	chr1:160829045-160829046
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:160822600..160825606-chr1:160827669..160829423,3	K562	blood:

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

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

rs_ID	r²[population]
rs57499617	1.00[EUR][1000 genomes]
rs59304310	1.00[EUR][1000 genomes]
rs61120573	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6678254	1.00[EUR][1000 genomes]
rs74124288	1.00[EUR][1000 genomes]
rs74124344	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124345	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124356	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv464161	chr1:160747615-160852046	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv548057	chr1:160747615-160852046	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160821000-160830800	Weak transcription	Spleen	Spleen
2	chr1:160824600-160831200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:160825200-160830600	Enhancers	Primary hematopoietic stem cells	blood
4	chr1:160826400-160830600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr1:160826400-160830800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr1:160826400-160831800	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr1:160826600-160830200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr1:160826600-160830400	Enhancers	Primary T cells fromperipheralblood	blood
9	chr1:160826600-160832200	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr1:160827000-160830600	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr1:160827400-160830000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr1:160827600-160829200	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr1:160828000-160829200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:160828000-160829800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr1:160828200-160829800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr1:160828400-160829200	Enhancers	Colonic Mucosa	Colon
17	chr1:160828400-160830600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr1:160828600-160829200	Transcr. at gene 5' and 3'	Primary Natural Killer cells fromperipheralblood	blood
19	chr1:160828600-160832200	Weak transcription	Right Atrium	heart
20	chr1:160828600-160835000	Weak transcription	Fetal Intestine Large	intestine
21	chr1:160828800-160832000	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr1:160829000-160829200	Active TSS	Rectal Mucosa Donor 29	rectum
23	chr1:160829000-160830600	Weak transcription	Duodenum Mucosa	Duodenum
24	chr1:160829000-160830800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr1:160829000-160831800	Weak transcription	Fetal Intestine Small	intestine

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