Variant report

Variant	rs726118
Chromosome Location	chr2:47372474-47372475
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:47371596..47373428-chr2:47402536..47404935,2	MCF-7	breast:
2	chr2:47365880..47369146-chr2:47370027..47373078,3	MCF-7	breast:
3	chr2:47369235..47375339-chr2:47401137..47405019,8	K562	blood:
4	chr2:47371777..47374360-chr2:47408345..47411156,2	MCF-7	breast:
5	chr2:47369186..47371178-chr2:47371342..47373147,2	MCF-7	breast:
6	chr2:47371591..47376509-chr2:47378415..47384832,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000239605	Chromatin interaction
ENSG00000143933	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11683925	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1693888	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1693889	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1693892	0.94[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1723485	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17484460	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs815812	0.96[AMR][1000 genomes];0.91[EUR][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	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv457374	chr2:47313624-47448865	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	87 gene(s)	inside rSNPs	diseases
4	nsv581754	chr2:47313624-47448865	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	87 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47355000-47373000	Weak transcription	Fetal Stomach	stomach
2	chr2:47355000-47373200	Weak transcription	Aorta	Aorta
3	chr2:47355400-47373000	Weak transcription	Brain Substantia Nigra	brain
4	chr2:47355600-47377000	Weak transcription	Brain Angular Gyrus	brain
5	chr2:47357000-47372600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr2:47357000-47372800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:47357000-47385400	Weak transcription	Colon Smooth Muscle	Colon
8	chr2:47357000-47386600	Weak transcription	Fetal Heart	heart
9	chr2:47357000-47386800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:47357200-47376400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr2:47357200-47376800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr2:47357200-47386400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr2:47357400-47385400	Weak transcription	Fetal Intestine Large	intestine
14	chr2:47360200-47374400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr2:47360600-47386800	Weak transcription	Stomach Mucosa	stomach
16	chr2:47363400-47386400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr2:47364600-47376400	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr2:47364800-47373800	Weak transcription	HSMMtube	muscle
19	chr2:47365000-47373800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr2:47365000-47384000	Weak transcription	Brain Cingulate Gyrus	brain
21	chr2:47365200-47373000	Weak transcription	Left Ventricle	heart
22	chr2:47365400-47372800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr2:47365800-47375200	Strong transcription	HSMM	muscle
24	chr2:47365800-47375800	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr2:47365800-47376400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr2:47366000-47377000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr2:47366000-47383000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr2:47366200-47397000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr2:47366400-47376600	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr2:47366600-47373000	Weak transcription	Placenta	Placenta
31	chr2:47366600-47380000	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr2:47366800-47373000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr2:47366800-47376800	Weak transcription	Fetal Muscle Trunk	muscle
34	chr2:47366800-47399400	Strong transcription	Fetal Thymus	thymus
35	chr2:47367000-47373000	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr2:47367000-47379600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr2:47367000-47401200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr2:47367200-47379000	Strong transcription	Liver	Liver
39	chr2:47367200-47379800	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr2:47367200-47381600	Strong transcription	NHDF-Ad	bronchial
41	chr2:47367200-47382200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr2:47367200-47383600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr2:47367200-47402000	Weak transcription	Esophagus	oesophagus
44	chr2:47367600-47373200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr2:47367600-47376400	Weak transcription	Dnd41	blood
46	chr2:47367600-47376600	Weak transcription	Ovary	ovary
47	chr2:47367600-47376800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr2:47367600-47377000	Weak transcription	Lung	lung
49	chr2:47367600-47382200	Weak transcription	Spleen	Spleen
50	chr2:47367600-47385400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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