Variant report

Variant	rs74127416
Chromosome Location	chr1:150052113-150052114
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:150043397..150045227-chr1:150050265..150052800,2	MCF-7	breast:
2	chr1:150052015..150055118-chr1:150055429..150058256,3	K562	blood:
3	chr1:150051482..150053699-chr1:150054331..150056929,2	K562	blood:
4	chr1:150039318..150042381-chr1:150051335..150055529,5	MCF-7	breast:
5	chr1:150047323..150050277-chr1:150050711..150053002,2	K562	blood:
6	chr1:150050245..150053057-chr1:150057429..150060220,2	MCF-7	breast:
7	chr1:150039114..150041194-chr1:150050097..150052703,2	K562	blood:

Variant related genes	Relation type
ENSG00000136631	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs55643510	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55782319	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55989593	0.92[AFR][1000 genomes]
rs57545744	1.00[EUR][1000 genomes]
rs58106888	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60124736	0.91[AFR][1000 genomes]
rs60138147	0.92[AFR][1000 genomes]
rs62622370	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72692896	0.98[AFR][1000 genomes]
rs74124301	0.89[AFR][1000 genomes]
rs74124306	1.00[EUR][1000 genomes]
rs74124307	1.00[EUR][1000 genomes]
rs74127405	0.92[AFR][1000 genomes]
rs74127407	0.92[AFR][1000 genomes]
rs74127408	0.92[AFR][1000 genomes]
rs74127419	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74127421	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74127439	1.00[EUR][1000 genomes]
rs74127455	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831537	chr1:149833357-150064655	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	431 gene(s)	inside rSNPs	diseases
2	nsv529719	chr1:150006344-150311095	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150040200-150090800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:150040400-150056400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:150040400-150061600	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr1:150040400-150078800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:150040400-150082800	Weak transcription	Small Intestine	intestine
6	chr1:150040400-150086800	Weak transcription	Esophagus	oesophagus
7	chr1:150040400-150121400	Weak transcription	Pancreas	Pancrea
8	chr1:150040600-150072200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr1:150040600-150092000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr1:150040800-150054400	Weak transcription	Aorta	Aorta
11	chr1:150041000-150053600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr1:150041000-150064000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr1:150041000-150114400	Weak transcription	Right Ventricle	heart
14	chr1:150041200-150054800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:150041400-150053600	Weak transcription	Fetal Kidney	kidney
16	chr1:150041400-150055800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:150041400-150056000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:150041400-150066000	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr1:150041400-150067800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr1:150041400-150069200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:150041800-150058200	Strong transcription	Osteobl	bone
22	chr1:150042200-150073400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr1:150042200-150086600	Weak transcription	Gastric	stomach
24	chr1:150042400-150063200	Weak transcription	NHEK	skin
25	chr1:150042400-150067600	Weak transcription	Psoas Muscle	Psoas
26	chr1:150042600-150090800	Weak transcription	Stomach Mucosa	stomach
27	chr1:150043200-150060200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr1:150043400-150060400	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr1:150043600-150055200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr1:150044200-150056000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr1:150044200-150056000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr1:150045200-150053600	Weak transcription	HMEC	breast
33	chr1:150045600-150058200	Strong transcription	Fetal Lung	lung
34	chr1:150045800-150052800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr1:150045800-150060000	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr1:150046000-150053400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr1:150046600-150056200	Strong transcription	HUVEC	blood vessel
38	chr1:150046600-150057600	Strong transcription	Fetal Intestine Large	intestine
39	chr1:150046600-150060000	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr1:150047400-150054400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr1:150047400-150058200	Strong transcription	NH-A	brain
42	chr1:150047400-150060400	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr1:150047600-150056800	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr1:150048200-150055200	Strong transcription	Fetal Brain Female	brain
45	chr1:150048400-150053000	Strong transcription	Brain Hippocampus Middle	brain
46	chr1:150048400-150056600	Strong transcription	Colon Smooth Muscle	Colon
47	chr1:150048400-150068400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr1:150048600-150054400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr1:150048600-150056600	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr1:150048600-150060400	Strong transcription	Adipose Nuclei	Adipose

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