Variant report

Variant	rs73949841
Chromosome Location	chr2:86826586-86826587
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:86825949-86826992	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:86825844..86830459-chr2:86849493..86852270,4	MCF-7	breast:
2	chr2:86825748..86827499-chr2:86830079..86832561,2	K562	blood:

Variant related genes	Relation type
ENSG00000228363	TF binding region
ENSG00000228363	Chromatin interaction
ENSG00000249884	Chromatin interaction
ENSG00000239305	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10179968	1.00[AMR][1000 genomes]
rs10192729	1.00[AMR][1000 genomes]
rs10496321	1.00[AMR][1000 genomes]
rs13427212	1.00[AMR][1000 genomes]
rs1607448	1.00[AMR][1000 genomes]
rs55645731	1.00[AMR][1000 genomes]
rs58382371	1.00[AMR][1000 genomes]
rs59520922	1.00[AMR][1000 genomes]
rs60391171	1.00[AMR][1000 genomes]
rs6721311	0.83[AMR][1000 genomes]
rs73945298	1.00[AMR][1000 genomes]
rs73945300	1.00[AMR][1000 genomes]
rs73946205	1.00[AMR][1000 genomes]
rs73946210	1.00[AMR][1000 genomes]
rs73946213	1.00[AMR][1000 genomes]
rs73946224	1.00[AMR][1000 genomes]
rs73947226	1.00[AMR][1000 genomes]
rs73949508	1.00[AMR][1000 genomes]
rs73949836	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73949843	0.83[AMR][1000 genomes]
rs7600275	1.00[AMR][1000 genomes]
rs7609052	0.83[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	esv3412938	chr2:86370969-86867936	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
2	nsv532724	chr2:86622295-87086407	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS 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	45 gene(s)	inside rSNPs	diseases
3	nsv1011590	chr2:86824181-86906114	Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86819800-86831000	Weak transcription	Fetal Brain Female	brain
2	chr2:86820000-86830600	Weak transcription	Brain Anterior Caudate	brain
3	chr2:86820000-86830800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr2:86820200-86831000	Weak transcription	Fetal Brain Male	brain
5	chr2:86820200-86831000	Weak transcription	Stomach Smooth Muscle	stomach
6	chr2:86820400-86828400	Weak transcription	Fetal Stomach	stomach
7	chr2:86820600-86831000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr2:86823000-86830600	Weak transcription	Fetal Muscle Leg	muscle
9	chr2:86823200-86842800	Weak transcription	Psoas Muscle	Psoas
10	chr2:86823600-86831200	Weak transcription	HSMMtube	muscle
11	chr2:86824000-86830800	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr2:86824000-86831000	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr2:86824600-86840600	Weak transcription	Fetal Heart	heart
14	chr2:86824800-86831000	Weak transcription	Left Ventricle	heart
15	chr2:86825400-86849000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:86825600-86830600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:86825800-86826600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:86825800-86826800	Enhancers	NHEK	skin
19	chr2:86825800-86831000	Weak transcription	Liver	Liver
20	chr2:86826000-86826600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr2:86826000-86826600	Enhancers	HMEC	breast
22	chr2:86826000-86826800	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr2:86826000-86831000	Weak transcription	HUVEC	blood vessel
24	chr2:86826200-86826600	Enhancers	Colon Smooth Muscle	Colon
25	chr2:86826200-86826800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:86826200-86826800	Enhancers	Rectal Smooth Muscle	rectum
27	chr2:86826400-86826600	Enhancers	Aorta	Aorta
28	chr2:86826400-86826600	Enhancers	Gastric	stomach
29	chr2:86826400-86826800	Enhancers	Right Ventricle	heart
30	chr2:86826400-86830400	Weak transcription	Stomach Mucosa	stomach
31	chr2:86826400-86831000	Weak transcription	Hela-S3	cervix

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