Variant report

Variant	rs73077781
Chromosome Location	chr1:212818785-212818786
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr1:212818514-212818883	K562	blood:	n/a	n/a
2	JUND	chr1:212818612-212818810	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:212784952..212786928-chr1:212818399..212820324,2	K562	blood:
2	chr1:212816407..212819335-chr1:212838741..212840646,2	MCF-7	breast:
3	chr1:212816188..212818854-chr1:212818916..212822054,3	K562	blood:
4	chr1:212781135..212784585-chr1:212817878..212824204,9	K562	blood:
5	chr1:212817511..212819084-chr1:212851908..212854150,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000226036	TF binding region
ENSG00000226036	Chromatin interaction
ENSG00000237980	Chromatin interaction
ENSG00000162772	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12059590	1.00[EUR][1000 genomes]
rs12069714	1.00[EUR][1000 genomes]
rs12075398	1.00[EUR][1000 genomes]
rs12075971	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17019510	1.00[EUR][1000 genomes]
rs56412520	1.00[EUR][1000 genomes]
rs59478106	1.00[EUR][1000 genomes]
rs60292092	1.00[EUR][1000 genomes]
rs73077780	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73077794	1.00[EUR][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	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
2	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
3	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
4	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
5	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
6	nsv428588	chr1:212705588-212862875	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212802600-212822800	Weak transcription	Fetal Kidney	kidney
2	chr1:212812400-212821800	Weak transcription	Fetal Lung	lung
3	chr1:212812800-212819200	Weak transcription	Lung	lung
4	chr1:212814200-212821800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:212816600-212820400	Enhancers	Fetal Intestine Small	intestine
6	chr1:212816800-212820600	Enhancers	Fetal Intestine Large	intestine
7	chr1:212816800-212821000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:212817200-212819400	Enhancers	Left Ventricle	heart
9	chr1:212817400-212820600	Enhancers	Primary hematopoietic stem cells	blood
10	chr1:212817400-212821000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:212817800-212818800	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr1:212817800-212819000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr1:212817800-212819600	Enhancers	HepG2	liver
14	chr1:212818000-212819400	Enhancers	Rectal Mucosa Donor 29	rectum
15	chr1:212818000-212819400	Enhancers	Small Intestine	intestine
16	chr1:212818200-212818800	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr1:212818200-212819200	Weak transcription	HUVEC	blood vessel
18	chr1:212818200-212820800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:212818400-212819000	Enhancers	Duodenum Mucosa	Duodenum
20	chr1:212818400-212820000	Bivalent Enhancer	K562	blood
21	chr1:212818600-212819000	Enhancers	Colonic Mucosa	Colon
22	chr1:212818600-212819200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr1:212818600-212819400	Enhancers	Right Ventricle	heart
24	chr1:212818600-212824000	Weak transcription	Spleen	Spleen
25	chr1:212818600-212838400	Weak transcription	Right Atrium	heart

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