Variant report

Variant	rs57046762
Chromosome Location	chr4:48198076-48198077
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:48196328..48199209-chr4:48271124..48272856,2	K562	blood:
2	chr4:48175263..48177129-chr4:48197621..48199593,2	K562	blood:

Variant related genes	Relation type
ENSG00000135605	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10517213	1.00[EUR][1000 genomes]
rs2704422	1.00[EUR][1000 genomes]
rs58251115	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3447039	chr4:47822266-48285222	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv482316	chr4:48151953-48338746	Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	esv2763359	chr4:48189710-48290233	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48190400-48222000	Weak transcription	Fetal Intestine Small	intestine
2	chr4:48190600-48207200	Weak transcription	Spleen	Spleen
3	chr4:48194800-48198400	Enhancers	Fetal Thymus	thymus
4	chr4:48194800-48198800	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr4:48195000-48199000	Enhancers	K562	blood
6	chr4:48195000-48208200	Enhancers	Primary B cells from peripheral blood	blood
7	chr4:48195200-48199400	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr4:48195400-48198600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr4:48195400-48198600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr4:48195800-48198400	Enhancers	Primary hematopoietic stem cells	blood
11	chr4:48196200-48200000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr4:48196200-48207200	Weak transcription	Lung	lung
13	chr4:48196600-48198200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr4:48196600-48199000	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr4:48197000-48198200	Enhancers	HUVEC	blood vessel
16	chr4:48197400-48198400	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr4:48197400-48198600	Enhancers	NHDF-Ad	bronchial
18	chr4:48197600-48198200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr4:48197600-48198200	Enhancers	Muscle Satellite Cultured Cells	--
20	chr4:48197600-48198200	Enhancers	Fetal Kidney	kidney
21	chr4:48197600-48198200	Enhancers	HSMM	muscle
22	chr4:48197600-48198400	Enhancers	Stomach Mucosa	stomach
23	chr4:48197600-48198400	Enhancers	NHLF	lung
24	chr4:48197800-48198200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr4:48197800-48198200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr4:48197800-48198200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr4:48197800-48198200	Flanking Active TSS	Duodenum Mucosa	Duodenum
28	chr4:48197800-48198200	Enhancers	Esophagus	oesophagus
29	chr4:48197800-48198200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr4:48197800-48198200	Enhancers	Pancreas	Pancrea
31	chr4:48197800-48198200	Enhancers	Small Intestine	intestine
32	chr4:48197800-48198400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr4:48197800-48198400	Flanking Active TSS	GM12878-XiMat	blood
34	chr4:48197800-48199200	Weak transcription	Primary B cells from cord blood	blood
35	chr4:48198000-48199400	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr4:48198000-48199800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr4:48198000-48200000	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr4:48198000-48203000	Weak transcription	Primary neutrophils fromperipheralblood	blood

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