Variant report

Variant	rs72744122
Chromosome Location	chr1:223178477-223178478
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	chr1:223168013..223170513-chr1:223178406..223180207,2	MCF-7	breast:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs34064731	1.00[ASN][1000 genomes]
rs72744126	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv1014896	chr1:223070446-223327185	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv873207	chr1:223078802-223292632	Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv917330	chr1:223141547-223225893	Enhancers Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223163600-223179800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr1:223166200-223179400	Weak transcription	Small Intestine	intestine
3	chr1:223169000-223184000	Weak transcription	HSMM	muscle
4	chr1:223169000-223184200	Weak transcription	HSMMtube	muscle
5	chr1:223169000-223187600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:223170200-223183000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr1:223170200-223184200	Weak transcription	NH-A	brain
8	chr1:223172000-223179800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr1:223174200-223179000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr1:223174200-223180400	Weak transcription	Fetal Thymus	thymus
11	chr1:223175000-223179000	Strong transcription	Left Ventricle	heart
12	chr1:223175000-223180200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:223175200-223179400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr1:223175200-223184200	Weak transcription	Colonic Mucosa	Colon
15	chr1:223175200-223189800	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr1:223175400-223178600	Strong transcription	Primary B cells from cord blood	blood
17	chr1:223175400-223180200	Strong transcription	Primary T cells from cord blood	blood
18	chr1:223175400-223180200	Weak transcription	NHDF-Ad	bronchial
19	chr1:223175600-223178600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr1:223175600-223178600	Strong transcription	Liver	Liver
21	chr1:223175600-223178600	Strong transcription	Fetal Brain Female	brain
22	chr1:223175600-223178600	Strong transcription	Ovary	ovary
23	chr1:223175600-223178800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr1:223175600-223178800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr1:223175600-223178800	Strong transcription	Brain Hippocampus Middle	brain
26	chr1:223175600-223178800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr1:223175600-223178800	Strong transcription	Pancreas	Pancrea
28	chr1:223175600-223179000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr1:223175600-223179000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr1:223175600-223179000	Strong transcription	Fetal Intestine Small	intestine
31	chr1:223175600-223179000	Strong transcription	Right Ventricle	heart
32	chr1:223175600-223179200	Strong transcription	Lung	lung
33	chr1:223175600-223180000	Weak transcription	HepG2	liver
34	chr1:223175600-223180800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr1:223175600-223181000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr1:223175600-223184000	Weak transcription	Stomach Mucosa	stomach
37	chr1:223175800-223178600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr1:223175800-223178600	Strong transcription	Fetal Lung	lung
39	chr1:223175800-223178600	Strong transcription	Placenta	Placenta
40	chr1:223175800-223178800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr1:223175800-223178800	Strong transcription	Aorta	Aorta
42	chr1:223175800-223178800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr1:223175800-223178800	Strong transcription	Gastric	stomach
44	chr1:223175800-223179000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr1:223175800-223179000	Strong transcription	Adipose Nuclei	Adipose
46	chr1:223175800-223179000	Strong transcription	Skeletal Muscle Male	skeletal muscle
47	chr1:223175800-223179200	Strong transcription	Skeletal Muscle Female	skeletal muscle
48	chr1:223175800-223179200	Strong transcription	Spleen	Spleen
49	chr1:223175800-223180200	Strong transcription	Fetal Intestine Large	intestine
50	chr1:223176000-223178600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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