Variant report

Variant	rs74112272
Chromosome Location	chr1:119583136-119583137
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:119580791..119584405-chr1:119681779..119684464,3	MCF-7	breast:
2	chr1:119556973..119559259-chr1:119582858..119585012,2	MCF-7	breast:
3	chr1:119577568..119580240-chr1:119582143..119583663,2	K562	blood:

Variant related genes	Relation type
ENSG00000116874	Chromatin interaction
ENSG00000231365	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs17023092	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17023108	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17023118	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17023129	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17023211	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17023317	1.00[AMR][1000 genomes]
rs17023323	1.00[AMR][1000 genomes]
rs56083438	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57667302	1.00[AMR][1000 genomes]
rs60375409	1.00[AMR][1000 genomes]
rs74112264	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74112284	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74112509	1.00[AMR][1000 genomes]
rs74112511	1.00[AMR][1000 genomes]
rs74112512	1.00[AMR][1000 genomes]
rs74114807	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74114819	1.00[AMR][1000 genomes]
rs74114822	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	esv3494191	chr1:118772550-119719548	Enhancers Strong transcription Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	esv3494192	chr1:118772550-119719548	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv997707	chr1:119199568-119595949	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv932014	chr1:119476480-120471049	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
5	nsv517843	chr1:119581900-119589343	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv517011	chr1:119581937-119589343	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:119568200-119585400	Weak transcription	Brain Hippocampus Middle	brain
2	chr1:119568200-119611200	Weak transcription	Hela-S3	cervix
3	chr1:119569600-119587200	Weak transcription	Fetal Intestine Small	intestine
4	chr1:119569600-119589400	Weak transcription	Psoas Muscle	Psoas
5	chr1:119570000-119586600	Weak transcription	Spleen	Spleen
6	chr1:119570600-119589200	Weak transcription	Colon Smooth Muscle	Colon
7	chr1:119570600-119589600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr1:119570800-119583200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:119571000-119583400	Weak transcription	HSMM	muscle
10	chr1:119571000-119589400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:119571200-119584600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr1:119571200-119585000	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr1:119571200-119589400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:119571400-119613200	Weak transcription	Pancreas	Pancrea
15	chr1:119571600-119588200	Weak transcription	Fetal Intestine Large	intestine
16	chr1:119571600-119602200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:119571800-119589000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:119571800-119612400	Weak transcription	Gastric	stomach
19	chr1:119572000-119586800	Weak transcription	Stomach Mucosa	stomach
20	chr1:119572200-119589400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr1:119572600-119589200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:119572800-119583600	Weak transcription	Small Intestine	intestine
23	chr1:119572800-119589600	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr1:119573400-119599800	Weak transcription	Fetal Stomach	stomach
25	chr1:119573600-119588000	Weak transcription	Fetal Kidney	kidney
26	chr1:119574000-119587000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr1:119574200-119587000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr1:119574200-119589600	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr1:119574200-119590000	Weak transcription	Thymus	Thymus
30	chr1:119574400-119588400	Weak transcription	Fetal Lung	lung
31	chr1:119575000-119585800	Weak transcription	Dnd41	blood
32	chr1:119575800-119583600	Weak transcription	Esophagus	oesophagus
33	chr1:119575800-119583800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr1:119575800-119586600	Weak transcription	Primary B cells from peripheral blood	blood
35	chr1:119575800-119589200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr1:119575800-119592400	Weak transcription	Brain Angular Gyrus	brain
37	chr1:119575800-119603200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr1:119576000-119586400	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr1:119576000-119586800	Weak transcription	Liver	Liver
40	chr1:119576000-119587200	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr1:119576000-119588000	Weak transcription	Duodenum Mucosa	Duodenum
42	chr1:119576000-119588600	Weak transcription	Brain Anterior Caudate	brain
43	chr1:119576000-119588800	Weak transcription	Lung	lung
44	chr1:119576000-119589000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr1:119576000-119589200	Weak transcription	Aorta	Aorta
46	chr1:119576000-119589600	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr1:119576000-119590200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr1:119576000-119595000	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr1:119576000-119606200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr1:119576000-119608400	Weak transcription	Right Ventricle	heart

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