Variant report

Variant	rs4954310
Chromosome Location	chr2:133103499-133103500
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:44859654..44861763-chr2:133102344..133104670,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANKRD30BL-7	chr2:133103189-133104870	ENSG00000272769.1

Variant related genes	Relation type
ENSG00000062370	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10496686	0.92[AMR][1000 genomes]
rs13014225	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1829267	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4586687	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62169619	0.92[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875123	chr2:132564973-133127075	Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	51 gene(s)	inside rSNPs	diseases
2	nsv999341	chr2:132714332-133358577	Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	52 gene(s)	inside rSNPs	diseases
3	nsv916487	chr2:132719325-133355859	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	51 gene(s)	inside rSNPs	diseases
4	nsv1009861	chr2:132719550-133358577	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	51 gene(s)	inside rSNPs	diseases
5	esv2763165	chr2:132719550-133358589	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	51 gene(s)	inside rSNPs	diseases
6	nsv431701	chr2:132722012-133356398	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	51 gene(s)	inside rSNPs	diseases
7	nsv526029	chr2:132733281-133351415	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	51 gene(s)	inside rSNPs	diseases
8	nsv999965	chr2:132743229-133358577	Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	49 gene(s)	inside rSNPs	diseases
9	nsv1011421	chr2:132895241-133682185	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
10	nsv459418	chr2:133034154-133348083	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
11	nsv583149	chr2:133034154-133348083	Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
12	nsv583150	chr2:133034154-133351703	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
13	nsv870193	chr2:133036817-133127581	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
14	nsv875134	chr2:133043404-133127075	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
15	nsv962022	chr2:133046658-133110808	Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
16	nsv875135	chr2:133066736-133158922	Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:133102000-133105800	Active TSS	K562	blood
2	chr2:133102400-133104400	Active TSS	Hela-S3	cervix
3	chr2:133102400-133105800	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr2:133102600-133104200	Enhancers	Liver	Liver
5	chr2:133102600-133104200	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr2:133102600-133105200	Active TSS	iPS-18 Cell Line	embryonic stem cell
7	chr2:133102600-133105600	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr2:133102600-133105600	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr2:133102600-133106000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:133102800-133104200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:133102800-133105600	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr2:133102800-133105600	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr2:133102800-133105600	Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr2:133102800-133105800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr2:133102800-133105800	Active TSS	Brain Germinal Matrix	brain
16	chr2:133103000-133104200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr2:133103000-133104200	Active TSS	Colon Smooth Muscle	Colon
18	chr2:133103000-133105600	Active TSS	A549	lung
19	chr2:133103000-133106000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr2:133103200-133104200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr2:133103200-133104200	Weak transcription	Left Ventricle	heart
22	chr2:133103200-133105800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr2:133103200-133105800	Active TSS	Duodenum Mucosa	Duodenum
24	chr2:133103400-133103600	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr2:133103400-133103600	Active TSS	Skeletal Muscle Female	skeletal muscle
26	chr2:133103400-133104200	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr2:133103400-133104200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr2:133103400-133104200	Enhancers	Pancreatic Islets	Pancreatic Islet
29	chr2:133103400-133104200	Enhancers	Rectal Smooth Muscle	rectum
30	chr2:133103400-133105200	Active TSS	H1 Cell Line	embryonic stem cell
31	chr2:133103400-133105200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
32	chr2:133103400-133105400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr2:133103400-133105600	Active TSS	Psoas Muscle	Psoas
34	chr2:133103400-133105800	Active TSS	HMEC	breast

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