Variant report

Variant	rs73075738
Chromosome Location	chr1:213001317-213001318
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:213001095..213003639-chr1:213003692..213005660,2	K562	blood:
2	chr1:212782226..212783823-chr1:212998854..213001770,2	K562	blood:
3	chr1:213000835..213002742-chr1:213006925..213009621,2	K562	blood:

Variant related genes	Relation type
ENSG00000162772	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs41296720	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41300021	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41300031	0.93[AFR][1000 genomes]
rs41307644	0.81[AFR][1000 genomes]
rs56697362	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57219112	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57638446	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58103452	1.00[AFR][1000 genomes]
rs58411510	1.00[AFR][1000 genomes]
rs58860298	1.00[AMR][1000 genomes]
rs59645180	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61307999	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61531628	1.00[AFR][1000 genomes]
rs73075730	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73075736	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73075782	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73077863	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73077871	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73079880	0.88[AFR][1000 genomes]
rs73079886	0.88[AFR][1000 genomes]
rs73079887	0.88[AFR][1000 genomes]
rs73079900	1.00[AFR][1000 genomes]
rs73079978	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73079997	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73080000	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73081820	1.00[AFR][1000 genomes]
rs73081821	1.00[AFR][1000 genomes]
rs73081838	1.00[AFR][1000 genomes]
rs73081848	1.00[AFR][1000 genomes]
rs73081859	1.00[AFR][1000 genomes]
rs73081865	1.00[AFR][1000 genomes]
rs73081874	1.00[AFR][1000 genomes]
rs73081896	1.00[AFR][1000 genomes]
rs73083716	1.00[AFR][1000 genomes]
rs73083720	1.00[AFR][1000 genomes]
rs73083723	1.00[AFR][1000 genomes]
rs73083787	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73084238	1.00[AMR][1000 genomes]
rs73084295	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001637	chr1:212907611-213034606	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	esv2756884	chr1:212925429-213006397	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	esv2758997	chr1:212925429-213006397	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv549149	chr1:212997385-213009657	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a
5	nsv508691	chr1:212998319-213028392	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
6	nsv549150	chr1:212999701-213011812	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212999400-213009400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:212999800-213003600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:212999800-213005000	Weak transcription	Adipose Nuclei	Adipose
4	chr1:212999800-213005000	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr1:213000400-213002800	Enhancers	Fetal Intestine Small	intestine
6	chr1:213000600-213001800	Enhancers	Stomach Mucosa	stomach
7	chr1:213000600-213002200	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr1:213000600-213002600	Enhancers	Duodenum Mucosa	Duodenum
9	chr1:213000600-213002800	Enhancers	Fetal Intestine Large	intestine
10	chr1:213000800-213002400	Flanking Active TSS	HepG2	liver
11	chr1:213001000-213001400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:213001000-213001400	Enhancers	A549	lung
13	chr1:213001000-213001600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr1:213001000-213005800	Weak transcription	Rectal Mucosa Donor 29	rectum

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