Variant report

Variant	rs72992040
Chromosome Location	chr1:150908363-150908364
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:150907591..150910777-chr1:150921527..150924198,3	MCF-7	breast:
2	chr1:150902864..150904441-chr1:150906558..150909228,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs6691331	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72992027	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72992033	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72992042	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72992046	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73008818	1.00[AMR][1000 genomes]
rs73010812	1.00[AMR][1000 genomes]
rs9436016	0.92[AFR][1000 genomes];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	esv2829859	chr1:150608894-150937329	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv1008496	chr1:150845827-150970656	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 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	chr1:150899400-150915000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:150899600-150913200	Weak transcription	Aorta	Aorta
3	chr1:150899600-150913200	Weak transcription	Right Ventricle	heart
4	chr1:150899600-150913600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:150899600-150943400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:150900000-150913400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:150900000-150915200	Weak transcription	Esophagus	oesophagus
8	chr1:150900200-150908400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:150900200-150909000	Strong transcription	Cortex derived primary cultured neurospheres	brain
10	chr1:150900200-150941800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
11	chr1:150900400-150928400	Strong transcription	Liver	Liver
12	chr1:150900400-150941000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:150900400-150942600	Weak transcription	Stomach Mucosa	stomach
14	chr1:150900400-150944200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:150901000-150941600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:150901600-150941600	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr1:150902400-150917600	Strong transcription	HSMM	muscle
18	chr1:150903400-150915000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr1:150903400-150917000	Weak transcription	Fetal Heart	heart
20	chr1:150903600-150909800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr1:150903600-150910600	Weak transcription	Colonic Mucosa	Colon
22	chr1:150903600-150911200	Weak transcription	Small Intestine	intestine
23	chr1:150903600-150912200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr1:150903600-150912200	Weak transcription	NHEK	skin
25	chr1:150903600-150912400	Weak transcription	HSMMtube	muscle
26	chr1:150903600-150913000	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr1:150903600-150913800	Weak transcription	HMEC	breast
28	chr1:150903600-150914800	Weak transcription	Pancreas	Pancrea
29	chr1:150903600-150919600	Weak transcription	Psoas Muscle	Psoas
30	chr1:150903600-150941600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr1:150903600-150942200	Strong transcription	Dnd41	blood
32	chr1:150903600-150942800	Strong transcription	Fetal Stomach	stomach
33	chr1:150903600-150943000	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr1:150903600-150943200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr1:150903800-150915000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr1:150903800-150915400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr1:150903800-150942600	Strong transcription	Fetal Thymus	thymus
38	chr1:150904000-150910400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr1:150904000-150913200	Weak transcription	Gastric	stomach
40	chr1:150904000-150930600	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr1:150904400-150915000	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr1:150904400-150940800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr1:150904600-150911400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr1:150904600-150912200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr1:150904600-150912400	Weak transcription	NHLF	lung
46	chr1:150904600-150942200	Strong transcription	Duodenum Mucosa	Duodenum
47	chr1:150904600-150942400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr1:150904600-150942400	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr1:150904600-150943400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr1:150904800-150912000	Weak transcription	Ovary	ovary

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