Variant report

Variant	rs74140028
Chromosome Location	chr1:212652349-212652350
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:212650902..212653623-chr1:212731690..212733930,2	K562	blood:
2	chr1:212652289..212653872-chr1:212658480..212660402,2	K562	blood:
3	chr1:212651824..212654736-chr1:212678210..212680308,2	K562	blood:
4	chr1:212650032..212653623-chr1:212730266..212733190,4	K562	blood:
5	chr1:212645805..212648932-chr1:212650111..212654210,5	K562	blood:
6	chr1:212651212..212653872-chr1:212658074..212660402,3	K562	blood:
7	chr1:212643908..212648932-chr1:212649184..212654651,9	K562	blood:
8	chr1:212648507..212667078-chr1:212779147..212787651,52	K562	blood:
9	chr1:212651265..212654246-chr1:212726991..212729981,2	K562	blood:
10	chr1:212645024..212669819-chr1:212778382..212791615,68	K562	blood:
11	chr1:212651102..212654693-chr1:212655377..212658457,3	K562	blood:
12	chr1:212651362..212653515-chr1:212793068..212795990,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000162772	Chromatin interaction
ENSG00000264590	Chromatin interaction
ENSG00000260805	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11802845	0.89[AFR][1000 genomes]
rs11805256	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11808144	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58144375	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs594155	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60783170	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7517843	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7535116	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009376	chr1:212292357-212680320	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
3	nsv997629	chr1:212404489-212658785	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv535286	chr1:212404489-212658785	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv1013110	chr1:212555764-212948092	Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
6	nsv535287	chr1:212555764-212948092	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
7	nsv873159	chr1:212610755-212669475	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv873160	chr1:212610755-212675482	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv873161	chr1:212610755-212683565	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv873162	chr1:212610755-212716033	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv527863	chr1:212617423-212700618	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv873163	chr1:212629935-212669475	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	esv2757770	chr1:212648143-212843103	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases
14	esv2758996	chr1:212648143-212843103	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212641600-212658200	Weak transcription	Gastric	stomach
2	chr1:212641800-212655200	Weak transcription	Right Atrium	heart
3	chr1:212643800-212652400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:212645000-212652400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:212650400-212652400	Enhancers	K562	blood
6	chr1:212650400-212652600	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr1:212650400-212653400	Enhancers	Placenta	Placenta
8	chr1:212650600-212667800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:212650800-212652800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:212650800-212661600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr1:212651000-212653000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr1:212651000-212655400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr1:212651000-212658200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:212651200-212655800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:212651200-212656200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr1:212651400-212658000	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr1:212651600-212652400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:212651600-212654200	Weak transcription	A549	lung
19	chr1:212651600-212655200	Weak transcription	Hela-S3	cervix
20	chr1:212651600-212656800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr1:212651600-212659200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:212652000-212653000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
23	chr1:212652000-212655200	Weak transcription	Fetal Intestine Small	intestine
24	chr1:212652200-212652400	Enhancers	Fetal Intestine Large	intestine
25	chr1:212652200-212653600	Enhancers	HUVEC	blood vessel
26	chr1:212652200-212656400	Weak transcription	Colonic Mucosa	Colon

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