Variant report

Variant	rs73979297
Chromosome Location	chr2:191447537-191447538
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:191393388..191396315-chr2:191446782..191449171,2	K562	blood:
2	chr2:191446916..191449230-chr2:191454254..191457389,3	K562	blood:
3	chr2:191447292..191449336-chr2:191452826..191454451,2	MCF-7	breast:
4	chr2:191445550..191448092-chr2:191512865..191515338,2	K562	blood:

Variant related genes	Relation type
ENSG00000138386	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs16832758	1.00[AFR][1000 genomes]
rs56179440	0.90[AFR][1000 genomes]
rs59765171	1.00[AFR][1000 genomes]
rs73979261	0.90[AFR][1000 genomes]
rs73979282	1.00[AFR][1000 genomes]
rs73979293	1.00[AFR][1000 genomes]
rs73979296	0.90[AFR][1000 genomes]
rs73979302	1.00[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834492	chr2:191438864-191646621	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191436800-191457000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:191443600-191448400	Weak transcription	Placenta	Placenta
3	chr2:191443800-191447600	Weak transcription	Right Ventricle	heart
4	chr2:191443800-191447600	Weak transcription	NHLF	lung
5	chr2:191443800-191447800	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr2:191443800-191448200	Weak transcription	Osteobl	bone
7	chr2:191443800-191448400	Weak transcription	Left Ventricle	heart
8	chr2:191443800-191450200	Weak transcription	Esophagus	oesophagus
9	chr2:191443800-191456600	Weak transcription	Psoas Muscle	Psoas
10	chr2:191444000-191447600	Weak transcription	Primary B cells from peripheral blood	blood
11	chr2:191444000-191447600	Weak transcription	Adipose Nuclei	Adipose
12	chr2:191444000-191447600	Weak transcription	NHDF-Ad	bronchial
13	chr2:191444000-191449600	Weak transcription	Fetal Brain Male	brain
14	chr2:191444200-191447600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:191444200-191456800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr2:191445000-191448400	Weak transcription	Ovary	ovary
17	chr2:191445200-191448000	Weak transcription	HMEC	breast
18	chr2:191445200-191448400	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr2:191445400-191447600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:191445400-191450800	Enhancers	Fetal Stomach	stomach
21	chr2:191445600-191447800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:191445600-191448000	Weak transcription	NHEK	skin
23	chr2:191445600-191448400	Weak transcription	Small Intestine	intestine
24	chr2:191445800-191449000	Enhancers	K562	blood
25	chr2:191446000-191447600	Weak transcription	A549	lung
26	chr2:191446000-191448200	Enhancers	Fetal Lung	lung
27	chr2:191446400-191447800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr2:191446600-191448200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:191446600-191448800	Enhancers	Right Atrium	heart
30	chr2:191446600-191449000	Enhancers	Brain Cingulate Gyrus	brain
31	chr2:191446600-191449000	Enhancers	Brain Substantia Nigra	brain
32	chr2:191446600-191449400	Enhancers	Fetal Heart	heart
33	chr2:191446800-191448600	Enhancers	Brain Hippocampus Middle	brain
34	chr2:191446800-191448800	Enhancers	Brain Angular Gyrus	brain
35	chr2:191447000-191447600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr2:191447000-191448400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr2:191447000-191448800	Enhancers	Brain Anterior Caudate	brain
38	chr2:191447000-191448800	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr2:191447000-191449200	Enhancers	Fetal Muscle Leg	muscle
40	chr2:191447200-191448000	Enhancers	Stomach Smooth Muscle	stomach
41	chr2:191447200-191448000	Enhancers	HSMMtube	muscle
42	chr2:191447200-191448800	Enhancers	Colon Smooth Muscle	Colon
43	chr2:191447400-191447600	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr2:191447400-191447600	Enhancers	GM12878-XiMat	blood
45	chr2:191447400-191448600	Enhancers	Muscle Satellite Cultured Cells	--
46	chr2:191447400-191448600	Enhancers	Rectal Smooth Muscle	rectum
47	chr2:191447400-191449000	Enhancers	Hela-S3	cervix

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