Variant report

Variant	rs72944866
Chromosome Location	chr2:98638901-98638902
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:98611796..98614160-chr2:98637471..98638979,2	MCF-7	breast:
2	chr2:98615980..98618029-chr2:98637891..98639603,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000075568	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs6739810	1.00[AMR][1000 genomes]
rs72944837	1.00[AMR][1000 genomes]
rs72944838	1.00[AMR][1000 genomes]
rs72944839	1.00[AMR][1000 genomes]
rs72944858	1.00[AMR][1000 genomes]
rs72944860	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526360	chr2:98403683-98814054	Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv521568	chr2:98403683-98826203	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1004220	chr2:98423421-98816010	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1007259	chr2:98429744-98818080	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv535832	chr2:98429744-98818080	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1009218	chr2:98442640-98816010	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1003925	chr2:98442640-98821102	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv999442	chr2:98448732-98816010	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv1013902	chr2:98454309-98818080	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv1013416	chr2:98472701-98688729	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv518056	chr2:98586842-99156296	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98622600-98641800	Weak transcription	Gastric	stomach
2	chr2:98627400-98641600	Weak transcription	Psoas Muscle	Psoas
3	chr2:98634000-98642400	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr2:98636200-98639400	Enhancers	Stomach Mucosa	stomach
5	chr2:98636800-98639400	Enhancers	GM12878-XiMat	blood
6	chr2:98637000-98639400	Enhancers	Primary B cells from peripheral blood	blood
7	chr2:98637800-98639000	Enhancers	Primary B cells from cord blood	blood
8	chr2:98637800-98639200	Enhancers	Rectal Mucosa Donor 29	rectum
9	chr2:98637800-98643200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr2:98638000-98642600	Weak transcription	Duodenum Mucosa	Duodenum
11	chr2:98638000-98644800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr2:98638000-98656600	Weak transcription	Right Atrium	heart
13	chr2:98638200-98642600	Weak transcription	Brain Anterior Caudate	brain
14	chr2:98638200-98642600	Weak transcription	Brain Germinal Matrix	brain
15	chr2:98638200-98642800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr2:98638200-98643000	Weak transcription	Colonic Mucosa	Colon
17	chr2:98638200-98643400	Weak transcription	Fetal Muscle Leg	muscle
18	chr2:98638200-98643400	Weak transcription	Left Ventricle	heart
19	chr2:98638200-98644000	Weak transcription	Placenta	Placenta
20	chr2:98638400-98644600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr2:98638800-98639000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
22	chr2:98638800-98639000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
23	chr2:98638800-98641600	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr2:98638800-98643400	Weak transcription	Sigmoid Colon	Sigmoid Colon

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