Variant report

Variant	rs2994522
Chromosome Location	chr1:213026514-213026515
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:213026484-213026520	HepG2	liver:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:213025489..213028696-chr1:213029248..213033184,3	K562	blood:
2	chr1:213025871..213028763-chr1:213030169..213033277,3	MCF-7	breast:
3	chr1:213026064..213028809-chr1:213029690..213032627,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C1orf227-1	chr1:213025450-213027653	ENSG00000198468
2	lnc-C1orf227-1	chr1:213025450-213027651	ENSG00000198468.3

No data

Variant related genes	Relation type
ENSG00000235182	TF binding region
ENSG00000162769	Chromatin interaction
ENSG00000198468	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1284850	0.86[EUR][1000 genomes]
rs1284857	1.00[EUR][1000 genomes]
rs1284858	1.00[EUR][1000 genomes]
rs1284859	0.86[EUR][1000 genomes]
rs1284861	0.96[EUR][1000 genomes]
rs1296068	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1472845	0.92[EUR][1000 genomes]
rs1692181	0.94[EUR][1000 genomes]
rs1692185	0.96[EUR][1000 genomes]
rs1770775	0.88[EUR][1000 genomes]
rs1770776	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2252377	0.86[EUR][1000 genomes]
rs2262891	0.92[EUR][1000 genomes]
rs2487264	0.86[EUR][1000 genomes]
rs2487265	0.96[EUR][1000 genomes]
rs2644546	0.86[EUR][1000 genomes]
rs2644550	0.96[EUR][1000 genomes]
rs2792559	0.92[EUR][1000 genomes]
rs2940085	0.92[EUR][1000 genomes]
rs3006241	0.92[EUR][1000 genomes]
rs57046861	0.96[EUR][1000 genomes]
rs931591	0.86[EUR][1000 genomes]
rs9430104	1.00[EUR][1000 genomes]
rs9430105	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
3	nsv1011186	chr1:213005165-213069563	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1013705	chr1:213005344-213064209	Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv1008383	chr1:213025546-213114894	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213020400-213028600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:213021600-213026800	Weak transcription	HepG2	liver
3	chr1:213022600-213030000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr1:213024200-213030000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr1:213024200-213030200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr1:213024600-213026800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr1:213025200-213030200	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr1:213025400-213029600	Weak transcription	Dnd41	blood
9	chr1:213025600-213026600	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr1:213025800-213026800	Enhancers	H1 Cell Line	embryonic stem cell
11	chr1:213025800-213027200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:213025800-213029800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:213025800-213030000	Weak transcription	Primary B cells from peripheral blood	blood
14	chr1:213026000-213026800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr1:213026000-213026800	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr1:213026000-213026800	Enhancers	A549	lung
17	chr1:213026000-213030200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:213026000-213030200	Weak transcription	Stomach Smooth Muscle	stomach
19	chr1:213026200-213026800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:213026200-213027600	Enhancers	Fetal Intestine Small	intestine
21	chr1:213026200-213028400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr1:213026200-213028400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr1:213026200-213029600	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr1:213026200-213030400	Weak transcription	Right Atrium	heart
25	chr1:213026200-213030800	Weak transcription	Thymus	Thymus
26	chr1:213026400-213028400	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr1:213026400-213029800	Weak transcription	Brain Hippocampus Middle	brain
28	chr1:213026400-213030200	Weak transcription	Primary T cells from cord blood	blood
29	chr1:213026400-213030400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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