Variant report

Variant	rs74125077
Chromosome Location	chr1:151036272-151036273
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:150941235..150942777-chr1:151033520..151036344,2	K562	blood:
2	chr1:150976723..150987587-chr1:151024685..151036322,24	MCF-7	breast:
3	chr1:151034097..151036685-chr20:45986006..45988926,2	MCF-7	breast:
4	chr1:150996357..150999455-chr1:151032530..151036839,3	K562	blood:

Variant related genes	Relation type
ENSG00000143418	Chromatin interaction
ENSG00000143363	Chromatin interaction
ENSG00000143409	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs41266626	0.83[EUR][1000 genomes]
rs41266630	1.00[EUR][1000 genomes]
rs41267548	1.00[EUR][1000 genomes]
rs41299635	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41310891	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41310905	1.00[EUR][1000 genomes]
rs55716130	1.00[AMR][1000 genomes]
rs55935377	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57330524	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58618837	1.00[AMR][1000 genomes]
rs58763463	1.00[AMR][1000 genomes]
rs59737164	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60636837	1.00[AMR][1000 genomes]
rs60865304	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74125051	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74125053	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74125059	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74125062	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74125063	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74125065	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74125079	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74125080	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74125087	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74125088	1.00[AMR][1000 genomes]
rs74125093	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74127505	1.00[AMR][1000 genomes];1.00[EUR][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];1.00[EUR][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:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151033000-151042800	Weak transcription	Gastric	stomach
2	chr1:151033200-151042200	Weak transcription	Esophagus	oesophagus
3	chr1:151033200-151042200	Weak transcription	Pancreas	Pancrea
4	chr1:151033200-151042600	Weak transcription	Aorta	Aorta
5	chr1:151033600-151041800	Weak transcription	Primary B cells from cord blood	blood
6	chr1:151033600-151042200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:151033800-151036400	Enhancers	Placenta Amnion	Placenta Amnion
8	chr1:151033800-151036600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:151033800-151038400	Weak transcription	Primary T cells from cord blood	blood
10	chr1:151033800-151042600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr1:151033800-151042600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr1:151033800-151042600	Weak transcription	Right Atrium	heart
13	chr1:151034000-151036600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:151034000-151036600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:151034000-151036800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr1:151034000-151038200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:151034000-151038400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:151034000-151041800	Weak transcription	Primary hematopoietic stem cells	blood
19	chr1:151034000-151041800	Weak transcription	Colon Smooth Muscle	Colon
20	chr1:151034000-151041800	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr1:151034000-151042000	Weak transcription	Spleen	Spleen
22	chr1:151034000-151042200	Weak transcription	Stomach Smooth Muscle	stomach
23	chr1:151034000-151042400	Weak transcription	Fetal Intestine Small	intestine
24	chr1:151034200-151038400	Weak transcription	Fetal Muscle Trunk	muscle
25	chr1:151034200-151038400	Weak transcription	Fetal Stomach	stomach
26	chr1:151034200-151038600	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr1:151034200-151041600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr1:151034200-151042400	Weak transcription	Fetal Intestine Large	intestine
29	chr1:151034400-151038600	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr1:151034400-151041400	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr1:151034400-151042200	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr1:151034600-151036800	Weak transcription	Brain Hippocampus Middle	brain
33	chr1:151034600-151037000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr1:151034600-151038600	Weak transcription	Thymus	Thymus
35	chr1:151034600-151039600	Weak transcription	Fetal Muscle Leg	muscle
36	chr1:151034600-151041800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr1:151034600-151042600	Weak transcription	Fetal Kidney	kidney
38	chr1:151034800-151036800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr1:151034800-151037000	Weak transcription	Liver	Liver
40	chr1:151035200-151036400	Transcr. at gene 5' and 3'	Dnd41	blood
41	chr1:151035200-151037200	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
42	chr1:151035200-151037600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr1:151035200-151041600	Strong transcription	Fetal Thymus	thymus
44	chr1:151035400-151036800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr1:151035400-151037200	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
46	chr1:151035400-151037400	Genic enhancers	K562	blood
47	chr1:151035400-151038400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr1:151035400-151038400	Weak transcription	Fetal Lung	lung
49	chr1:151035400-151038800	Genic enhancers	Cortex derived primary cultured neurospheres	brain
50	chr1:151035600-151036400	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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