Variant report

Variant	rs74125053
Chromosome Location	chr1:151022754-151022755
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150979769..150983967-chr1:151018069..151024059,8	MCF-7	breast:
2	chr1:151021444..151023806-chr17:57921361..57924226,2	MCF-7	breast:
3	chr1:150995615..151002939-chr1:151018225..151024612,15	MCF-7	breast:
4	chr1:150974834..150982774-chr1:151014282..151023779,19	MCF-7	breast:
5	chr1:150995720..151000061-chr1:151021068..151023867,4	K562	blood:
6	chr1:150989805..150991764-chr1:151022449..151024450,2	K562	blood:
7	chr1:150988741..150990309-chr1:151021860..151024811,2	MCF-7	breast:
8	chr1:151022097..151024795-chr1:151070842..151073434,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000143409	Chromatin interaction
ENSG00000143363	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs41299635	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41310891	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55716130	1.00[AMR][1000 genomes]
rs55935377	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57330524	1.00[AMR][1000 genomes]
rs58618837	1.00[AMR][1000 genomes]
rs58763463	1.00[AMR][1000 genomes]
rs59737164	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60636837	1.00[AMR][1000 genomes]
rs60865304	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74125051	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74125059	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74125062	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74125063	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74125065	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74125077	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74125079	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74125080	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74125087	1.00[AMR][1000 genomes]
rs74125088	1.00[AMR][1000 genomes]
rs74125093	1.00[AMR][1000 genomes]
rs74127505	1.00[AMR][1000 genomes]
rs74127506	1.00[AMR][1000 genomes]
rs74127513	1.00[AMR][1000 genomes]
rs74127514	1.00[AMR][1000 genomes]
rs74127515	1.00[AMR][1000 genomes]
rs74127528	1.00[AMR][1000 genomes]
rs74127529	1.00[AMR][1000 genomes]
rs74127530	1.00[AMR][1000 genomes]
rs74127531	1.00[AMR][1000 genomes]
rs74127535	1.00[AMR][1000 genomes]
rs74127536	1.00[AMR][1000 genomes]
rs74127539	1.00[AMR][1000 genomes]
rs74127540	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001897	chr1:150743271-151241600	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv535158	chr1:150743271-151241600	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv522840	chr1:150933723-151347746	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
4	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151021000-151023600	Enhancers	Sigmoid Colon	Sigmoid Colon
2	chr1:151021200-151023000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr1:151021200-151030400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:151021400-151022800	Enhancers	Brain Cingulate Gyrus	brain
5	chr1:151021400-151022800	Enhancers	Right Ventricle	heart
6	chr1:151021400-151023000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:151021400-151023200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr1:151021400-151023200	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr1:151021400-151023600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr1:151021400-151023600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr1:151021400-151023600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr1:151021400-151023600	Weak transcription	Dnd41	blood
13	chr1:151021400-151023800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr1:151021400-151024000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:151021400-151024000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:151021400-151024000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr1:151021400-151024000	Weak transcription	Esophagus	oesophagus
18	chr1:151021400-151024000	Weak transcription	Left Ventricle	heart
19	chr1:151021400-151024000	Weak transcription	Lung	lung
20	chr1:151021400-151024000	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr1:151021400-151024000	Weak transcription	Thymus	Thymus
22	chr1:151021400-151024200	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr1:151021400-151024200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr1:151021400-151024200	Weak transcription	Aorta	Aorta
25	chr1:151021400-151024400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr1:151021400-151024400	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr1:151021400-151024400	Weak transcription	Ovary	ovary
28	chr1:151021400-151024800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:151021400-151025600	Weak transcription	Small Intestine	intestine
30	chr1:151021400-151028000	Weak transcription	Psoas Muscle	Psoas
31	chr1:151021400-151029000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr1:151021400-151030000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr1:151021600-151022800	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr1:151021600-151022800	Enhancers	Primary T cells from cord blood	blood
35	chr1:151021600-151022800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr1:151021600-151023000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr1:151021600-151023000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr1:151021600-151023000	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr1:151021600-151023000	Weak transcription	Adipose Nuclei	Adipose
40	chr1:151021600-151023000	Enhancers	Fetal Brain Male	brain
41	chr1:151021600-151023000	Enhancers	Fetal Heart	heart
42	chr1:151021600-151023000	Weak transcription	Stomach Smooth Muscle	stomach
43	chr1:151021600-151023000	Weak transcription	NHEK	skin
44	chr1:151021600-151023200	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr1:151021600-151023200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr1:151021600-151023200	Weak transcription	Liver	Liver
47	chr1:151021600-151023200	Weak transcription	HSMMtube	muscle
48	chr1:151021600-151023400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr1:151021600-151023600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr1:151021600-151023600	Weak transcription	Duodenum Mucosa	Duodenum

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