Variant report

Variant	rs72956041
Chromosome Location	chr1:93221404-93221405
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:93219197..93221453-chr1:93249271..93251757,2	K562	blood:
2	chr1:93220670..93222907-chr1:93296640..93299176,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RPL5-2	chr1:93221351-93222513	NONHSAT004467

Variant related genes	Relation type
ENSG00000122406	Chromatin interaction
ENSG00000067208	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs2391176	1.00[AMR][1000 genomes]
rs59590952	1.00[AMR][1000 genomes]
rs60815312	1.00[AMR][1000 genomes]
rs72956029	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72956069	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72964704	1.00[AMR][1000 genomes]
rs72964707	1.00[AMR][1000 genomes]
rs72964727	1.00[AMR][1000 genomes]
rs72966172	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72966196	1.00[AMR][1000 genomes]
rs72966719	1.00[AMR][1000 genomes]
rs72966728	1.00[AMR][1000 genomes]
rs72966760	1.00[AMR][1000 genomes]
rs72966784	1.00[AMR][1000 genomes]
rs72966791	1.00[AMR][1000 genomes]
rs72968037	1.00[AMR][1000 genomes]
rs72968083	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72968088	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72968836	1.00[AMR][1000 genomes]
rs72970627	1.00[AMR][1000 genomes]
rs72970638	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997898	chr1:93167128-93228156	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS 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	51 gene(s)	inside rSNPs	diseases
3	nsv871263	chr1:93196273-93248228	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93190000-93221800	Weak transcription	Rectal Smooth Muscle	rectum
2	chr1:93191200-93221600	Weak transcription	Fetal Intestine Large	intestine
3	chr1:93192400-93226400	Weak transcription	Esophagus	oesophagus
4	chr1:93193000-93223800	Weak transcription	Duodenum Mucosa	Duodenum
5	chr1:93200200-93224000	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr1:93209200-93222400	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr1:93209200-93227800	Weak transcription	Primary B cells from cord blood	blood
8	chr1:93211800-93249200	Weak transcription	Fetal Stomach	stomach
9	chr1:93214000-93224200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr1:93214000-93224600	Weak transcription	Psoas Muscle	Psoas
11	chr1:93214000-93231200	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr1:93214000-93240000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:93214000-93248400	Weak transcription	Lung	lung
14	chr1:93218200-93221800	Enhancers	NH-A	brain
15	chr1:93218600-93223600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr1:93219400-93224800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:93219600-93223000	Weak transcription	HSMM	muscle
18	chr1:93219600-93224600	Weak transcription	Osteobl	bone
19	chr1:93219800-93225600	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr1:93220000-93221600	Weak transcription	Stomach Mucosa	stomach
21	chr1:93220000-93223800	Weak transcription	HMEC	breast
22	chr1:93220200-93227600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr1:93220400-93221800	Strong transcription	Fetal Intestine Small	intestine
24	chr1:93220400-93222000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:93220400-93224200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr1:93220400-93225000	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr1:93220400-93225800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr1:93220400-93232800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr1:93220800-93222400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:93220800-93222800	Enhancers	Fetal Heart	heart
31	chr1:93220800-93223200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr1:93221000-93221600	Flanking Active TSS	Brain Cingulate Gyrus	brain
33	chr1:93221000-93222000	Enhancers	Muscle Satellite Cultured Cells	--
34	chr1:93221000-93222000	Active TSS	Brain Anterior Caudate	brain
35	chr1:93221000-93222200	Weak transcription	Fetal Muscle Leg	muscle
36	chr1:93221000-93222400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr1:93221200-93221600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr1:93221200-93221600	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr1:93221200-93221600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr1:93221200-93221600	Active TSS	Left Ventricle	heart
41	chr1:93221200-93221600	Flanking Active TSS	NHDF-Ad	bronchial
42	chr1:93221200-93221600	Flanking Active TSS	NHLF	lung
43	chr1:93221200-93221800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr1:93221200-93221800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
45	chr1:93221200-93221800	Active TSS	Ovary	ovary
46	chr1:93221200-93221800	Strong transcription	A549	lung
47	chr1:93221200-93222000	Flanking Active TSS	Brain Hippocampus Middle	brain
48	chr1:93221200-93222000	Enhancers	HSMMtube	muscle
49	chr1:93221200-93222200	Enhancers	Adipose Nuclei	Adipose
50	chr1:93221200-93222400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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