Variant report

Variant	rs56043418
Chromosome Location	chr2:179355892-179355893
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:179355494..179357209-chr2:179364839..179367204,2	MCF-7	breast:
2	chr2:179354662..179357562-chr2:179362398..179365537,4	K562	blood:
3	chr2:179347333..179349438-chr2:179354619..179356582,3	MCF-7	breast:
4	chr2:179355382..179358080-chr2:179358228..179361281,3	K562	blood:

Variant related genes	Relation type
ENSG00000116095	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs56197274	1.00[AMR][1000 genomes]
rs56706093	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61729159	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6757481	0.95[AFR][1000 genomes]
rs73973116	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73973119	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73973120	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73973123	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7565338	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834467	chr2:179258140-179430965	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv834468	chr2:179351116-179533625	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179346400-179358600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:179346400-179387800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:179346600-179356200	Weak transcription	Colonic Mucosa	Colon
4	chr2:179346600-179358600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:179347200-179356000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr2:179347200-179356000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:179347200-179358600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr2:179347200-179358600	Weak transcription	NHEK	skin
9	chr2:179347200-179358800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr2:179347400-179356000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr2:179347400-179356000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:179347400-179363000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr2:179347400-179369400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr2:179347600-179356000	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr2:179347600-179356000	Weak transcription	Fetal Kidney	kidney
16	chr2:179347600-179358400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr2:179347600-179358600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:179347600-179371000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr2:179348000-179356000	Weak transcription	Thymus	Thymus
20	chr2:179349600-179358600	Weak transcription	Esophagus	oesophagus
21	chr2:179349600-179361200	Strong transcription	Primary T cells from cord blood	blood
22	chr2:179349800-179356000	Weak transcription	Aorta	Aorta
23	chr2:179349800-179356000	Weak transcription	Brain Cingulate Gyrus	brain
24	chr2:179349800-179356000	Weak transcription	Ovary	ovary
25	chr2:179349800-179356000	Weak transcription	Psoas Muscle	Psoas
26	chr2:179349800-179356000	Weak transcription	Rectal Smooth Muscle	rectum
27	chr2:179349800-179356000	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr2:179349800-179357400	Weak transcription	HUVEC	blood vessel
29	chr2:179349800-179358600	Weak transcription	Brain Angular Gyrus	brain
30	chr2:179349800-179358600	Weak transcription	Gastric	stomach
31	chr2:179349800-179360400	Weak transcription	Fetal Heart	heart
32	chr2:179349800-179364200	Weak transcription	Hela-S3	cervix
33	chr2:179350000-179358600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr2:179350200-179356000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr2:179350200-179358200	Weak transcription	Stomach Mucosa	stomach
36	chr2:179350200-179358400	Weak transcription	Right Atrium	heart
37	chr2:179350200-179358600	Weak transcription	Pancreas	Pancrea
38	chr2:179350200-179358800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr2:179350200-179358800	Weak transcription	Small Intestine	intestine
40	chr2:179350400-179356000	Weak transcription	Brain Hippocampus Middle	brain
41	chr2:179350400-179358800	Weak transcription	Colon Smooth Muscle	Colon
42	chr2:179350400-179364200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr2:179350400-179371600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr2:179350400-179371600	Strong transcription	Dnd41	blood
45	chr2:179350400-179372400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr2:179350400-179372400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr2:179350400-179384400	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr2:179350600-179356200	Weak transcription	Brain Germinal Matrix	brain
49	chr2:179350600-179371200	Strong transcription	Duodenum Mucosa	Duodenum
50	chr2:179350600-179372200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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