Variant report

Variant	rs74124280
Chromosome Location	chr1:160751871-160751872
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	chr1:160750574..160752770-chr1:160766750..160768788,2	K562	blood:
2	chr1:160750241..160751876-chr1:160779481..160781374,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000122224	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11265476	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11265486	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12072093	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12077897	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2077485	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs473433	1.00[AMR][1000 genomes]
rs474034	1.00[AMR][1000 genomes]
rs488955	1.00[AMR][1000 genomes]
rs529608	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs529878	1.00[AMR][1000 genomes]
rs534500	1.00[AMR][1000 genomes]
rs549626	1.00[AMR][1000 genomes]
rs577260	0.83[AMR][1000 genomes]
rs580429	1.00[AMR][1000 genomes]
rs74124282	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs911227	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
4	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
5	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:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160745400-160764800	Weak transcription	Primary T cells from cord blood	blood
2	chr1:160748800-160753400	Enhancers	Primary B cells from peripheral blood	blood
3	chr1:160749600-160753400	Enhancers	Placenta	Placenta
4	chr1:160750200-160752400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:160750200-160752400	Enhancers	NHEK	skin
6	chr1:160750200-160752800	Enhancers	Fetal Intestine Large	intestine
7	chr1:160750200-160752800	Enhancers	Fetal Intestine Small	intestine
8	chr1:160750200-160753000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:160750400-160752200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:160750400-160752400	Enhancers	Placenta Amnion	Placenta Amnion
11	chr1:160750400-160762000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:160750800-160752200	Enhancers	Fetal Lung	lung
13	chr1:160750800-160752400	Enhancers	Colonic Mucosa	Colon
14	chr1:160750800-160752400	Enhancers	Fetal Thymus	thymus
15	chr1:160750800-160752400	Enhancers	Lung	lung
16	chr1:160750800-160752400	Enhancers	Pancreas	Pancrea
17	chr1:160750800-160752400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
18	chr1:160750800-160752400	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr1:160751000-160752000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr1:160751000-160752800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr1:160751000-160753000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
22	chr1:160751200-160752400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr1:160751200-160752800	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr1:160751200-160753000	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr1:160751400-160752000	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr1:160751400-160752200	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr1:160751400-160752400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr1:160751400-160753000	Enhancers	Primary B cells from cord blood	blood
29	chr1:160751400-160753000	Flanking Active TSS	Duodenum Mucosa	Duodenum
30	chr1:160751600-160752000	Flanking Active TSS	Stomach Mucosa	stomach
31	chr1:160751600-160752200	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr1:160751600-160752400	Flanking Active TSS	GM12878-XiMat	blood
33	chr1:160751800-160752200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
34	chr1:160751800-160752400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
35	chr1:160751800-160752400	Enhancers	Esophagus	oesophagus
36	chr1:160751800-160752400	Active TSS	Rectal Smooth Muscle	rectum

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