Variant report

Variant	rs57374036
Chromosome Location	chr7:139939360-139939361
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr7:139939317-139939590	K562	blood:	n/a	n/a
2	RAD21	chr7:139939333-139939726	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr7:139939315-139939787	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:139929780..139933692-chr7:139937205..139940372,4	MCF-7	breast:
2	chr7:139875299..139879163-chr7:139938303..139941745,4	MCF-7	breast:
3	chr7:139933047..139936198-chr7:139937041..139939566,3	MCF-7	breast:
4	chr7:139929755..139932903-chr7:139938921..139941351,3	K562	blood:
5	chr7:139936660..139939760-chr7:139940053..139943342,4	K562	blood:

No data

Variant related genes	Relation type
RNU1-58P	TF binding region
ENSG00000006459	Chromatin interaction
ENSG00000199283	Chromatin interaction
ENSG00000260231	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12672627	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17161444	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2363103	0.93[ASN][1000 genomes]
rs57131680	0.93[ASN][1000 genomes]
rs57644186	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58933720	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61130821	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73160867	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv889247	chr7:139855216-140033631	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1015840	chr7:139912355-139987681	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:139931600-139941000	Weak transcription	Small Intestine	intestine
2	chr7:139931800-139942000	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr7:139932200-139939600	Weak transcription	Left Ventricle	heart
4	chr7:139933800-139941400	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr7:139934000-139941600	Weak transcription	Primary B cells from cord blood	blood
6	chr7:139936800-139942600	Enhancers	Sigmoid Colon	Sigmoid Colon
7	chr7:139937200-139942000	Weak transcription	Spleen	Spleen
8	chr7:139937800-139940200	Enhancers	Stomach Mucosa	stomach
9	chr7:139937800-139944000	Enhancers	Fetal Intestine Small	intestine
10	chr7:139937800-139944200	Enhancers	Fetal Intestine Large	intestine
11	chr7:139938400-139939400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr7:139938400-139939800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr7:139938400-139939800	Enhancers	Esophagus	oesophagus
14	chr7:139938400-139939800	Enhancers	Gastric	stomach
15	chr7:139938400-139939800	Enhancers	Lung	lung
16	chr7:139938600-139939400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
17	chr7:139938600-139939600	Enhancers	Right Ventricle	heart
18	chr7:139938600-139939800	Enhancers	K562	blood
19	chr7:139938800-139939600	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr7:139938800-139939800	Flanking Active TSS	HepG2	liver
21	chr7:139939000-139939400	Enhancers	Adipose Nuclei	Adipose
22	chr7:139939000-139939400	Flanking Active TSS	Colonic Mucosa	Colon
23	chr7:139939000-139939600	Flanking Active TSS	Duodenum Mucosa	Duodenum
24	chr7:139939000-139939800	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr7:139939000-139939800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr7:139939000-139941600	Weak transcription	Pancreas	Pancrea
27	chr7:139939200-139939600	Enhancers	Primary B cells from peripheral blood	blood
28	chr7:139939200-139939800	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr7:139939200-139940200	Enhancers	Rectal Mucosa Donor 29	rectum
30	chr7:139939200-139941800	Enhancers	Rectal Mucosa Donor 31	rectum

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