Variant report

Variant	rs72951021
Chromosome Location	chr2:58267150-58267151
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:58263006..58264985-chr2:58266495..58268240,2	MCF-7	breast:
2	chr2:58258986..58262667-chr2:58264897..58267784,3	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs17049352	0.86[AFR][1000 genomes]
rs58150137	0.93[AFR][1000 genomes]
rs59350619	0.93[AFR][1000 genomes]
rs6744187	0.93[AFR][1000 genomes]
rs72949138	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72949141	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72949150	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72949151	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72949154	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72949159	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72951025	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72951027	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72951080	0.86[AFR][1000 genomes]
rs72951097	0.86[AFR][1000 genomes]
rs7579768	0.93[AFR][1000 genomes]
rs7601969	1.00[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	nsv834159	chr2:58101262-58283655	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv525988	chr2:58161520-58427786	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv999591	chr2:58214871-58316147	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv582097	chr2:58266099-58346966	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:58251400-58272000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr2:58255600-58267600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:58256600-58271800	Weak transcription	Left Ventricle	heart
4	chr2:58256800-58272800	Weak transcription	Adipose Nuclei	Adipose
5	chr2:58256800-58273000	Weak transcription	Pancreas	Pancrea
6	chr2:58258200-58271800	Weak transcription	Brain Substantia Nigra	brain
7	chr2:58258400-58273000	Weak transcription	Liver	Liver
8	chr2:58258600-58272000	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr2:58258800-58273000	Weak transcription	Fetal Muscle Leg	muscle
10	chr2:58259400-58269400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr2:58260000-58272800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr2:58260200-58271800	Weak transcription	Brain Hippocampus Middle	brain
13	chr2:58260400-58273400	Weak transcription	Ovary	ovary
14	chr2:58262200-58273000	Weak transcription	Psoas Muscle	Psoas
15	chr2:58263000-58272800	Weak transcription	Brain Anterior Caudate	brain
16	chr2:58265600-58267200	Enhancers	Primary B cells from cord blood	blood
17	chr2:58265800-58267200	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr2:58265800-58267200	Enhancers	Primary B cells from peripheral blood	blood
19	chr2:58266400-58272600	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr2:58266600-58267600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr2:58266600-58268000	Weak transcription	NHEK	skin
22	chr2:58266600-58269000	Weak transcription	NH-A	brain
23	chr2:58266600-58269600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr2:58266600-58269600	Weak transcription	NHLF	lung
25	chr2:58266600-58271800	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr2:58266600-58271800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr2:58266600-58272000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr2:58266600-58272400	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr2:58266600-58273000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:58266600-58273200	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr2:58266800-58267400	Enhancers	Primary hematopoietic stem cells	blood
32	chr2:58266800-58267400	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr2:58266800-58267600	Weak transcription	K562	blood
34	chr2:58266800-58267800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:58266800-58268000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr2:58266800-58268200	Enhancers	GM12878-XiMat	blood
37	chr2:58266800-58268400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr2:58266800-58269000	Weak transcription	Esophagus	oesophagus
39	chr2:58266800-58269200	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr2:58266800-58269400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr2:58266800-58269600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr2:58266800-58269600	Weak transcription	Osteobl	bone
43	chr2:58266800-58270800	Enhancers	HUVEC	blood vessel
44	chr2:58266800-58271800	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr2:58266800-58272000	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr2:58266800-58272000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr2:58266800-58273400	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr2:58267000-58267400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr2:58267000-58267400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr2:58267000-58269400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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