Variant report

Variant	rs74072691
Chromosome Location	chr1:47087749-47087750
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:47087714..47088829-chr1:47190613..47191839,11	K562	blood:
2	chr1:47081490..47084087-chr1:47086263..47088090,2	MCF-7	breast:
3	chr1:47086033..47090385-chr1:47091411..47095597,5	K562	blood:

Variant related genes	Relation type
ENSG00000079277	Chromatin interaction
ENSG00000142961	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11211336	1.00[AMR][1000 genomes]
rs11211355	1.00[AMR][1000 genomes]
rs11488213	1.00[AMR][1000 genomes]
rs12068750	1.00[AMR][1000 genomes]
rs12068807	1.00[AMR][1000 genomes]
rs12071983	1.00[AMR][1000 genomes]
rs12073003	1.00[AMR][1000 genomes]
rs12091020	1.00[AMR][1000 genomes]
rs12094471	1.00[AMR][1000 genomes]
rs60434257	0.82[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	nsv1001455	chr1:46828004-47326539	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv534950	chr1:46828004-47326539	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv870392	chr1:47040676-47095097	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv522319	chr1:47080741-47094267	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47082800-47089600	Weak transcription	Small Intestine	intestine
2	chr1:47083000-47088000	Weak transcription	Spleen	Spleen
3	chr1:47083000-47090800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr1:47083000-47094400	Weak transcription	Primary T cells from cord blood	blood
5	chr1:47083000-47094600	Weak transcription	Right Ventricle	heart
6	chr1:47083000-47097200	Weak transcription	Gastric	stomach
7	chr1:47083000-47100000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:47083200-47088000	Weak transcription	Placenta	Placenta
9	chr1:47083200-47088000	Weak transcription	NH-A	brain
10	chr1:47083200-47094400	Weak transcription	Brain Angular Gyrus	brain
11	chr1:47083200-47094600	Weak transcription	Liver	Liver
12	chr1:47083200-47095400	Weak transcription	Fetal Thymus	thymus
13	chr1:47083200-47095600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:47083200-47097200	Weak transcription	Primary B cells from cord blood	blood
15	chr1:47083200-47097200	Weak transcription	Aorta	Aorta
16	chr1:47083200-47097200	Weak transcription	Thymus	Thymus
17	chr1:47083200-47100200	Weak transcription	Psoas Muscle	Psoas
18	chr1:47083200-47104600	Weak transcription	Stomach Mucosa	stomach
19	chr1:47083200-47115000	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr1:47083400-47087800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:47083400-47087800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr1:47083400-47089200	Weak transcription	Right Atrium	heart
23	chr1:47083400-47092200	Weak transcription	Pancreas	Pancrea
24	chr1:47083400-47094200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr1:47083400-47094200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr1:47083400-47094600	Weak transcription	Adipose Nuclei	Adipose
27	chr1:47083400-47094800	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr1:47083400-47095000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr1:47083400-47095600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr1:47083400-47095600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr1:47083400-47095600	Weak transcription	Duodenum Mucosa	Duodenum
32	chr1:47083400-47095600	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr1:47083400-47096800	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr1:47083400-47097000	Weak transcription	Colon Smooth Muscle	Colon
35	chr1:47083400-47097400	Weak transcription	Brain Substantia Nigra	brain
36	chr1:47083400-47113200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:47083600-47088000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr1:47083600-47094200	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr1:47084800-47094600	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr1:47084800-47097000	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr1:47085200-47088000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr1:47085400-47089600	Weak transcription	Fetal Muscle Leg	muscle
43	chr1:47085600-47099000	Weak transcription	GM12878-XiMat	blood
44	chr1:47085800-47097200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr1:47085800-47097600	Weak transcription	Primary B cells from peripheral blood	blood
46	chr1:47086800-47087800	Enhancers	Muscle Satellite Cultured Cells	--
47	chr1:47087000-47087800	Enhancers	NHDF-Ad	bronchial
48	chr1:47087000-47088200	Enhancers	HSMM	muscle
49	chr1:47087000-47088400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr1:47087200-47087800	Enhancers	Hela-S3	cervix

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