Variant report

Variant	rs57485648
Chromosome Location	chr3:67684446-67684447
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	chr3:67683377..67686449-chr3:67703484..67706242,3	K562	blood:

Variant related genes	Relation type
ENSG00000172340	Chromatin interaction
ENSG00000241316	Chromatin interaction

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

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

rs_ID	r²[population]
rs13319718	1.00[AMR][1000 genomes]
rs13327007	1.00[AMR][1000 genomes]
rs9867585	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470638	chr3:67367341-67814738	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv460700	chr3:67393629-67712970	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv590560	chr3:67393629-67712970	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv590561	chr3:67548852-67690626	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv3359258	chr3:67589615-67828274	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv876922	chr3:67635506-67755257	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv428739	chr3:67656829-67730379	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:67612400-67697200	Weak transcription	Hela-S3	cervix
2	chr3:67631400-67700200	Weak transcription	K562	blood
3	chr3:67659800-67685600	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr3:67659800-67690600	Weak transcription	Brain Hippocampus Middle	brain
5	chr3:67659800-67697400	Weak transcription	Colonic Mucosa	Colon
6	chr3:67660000-67685600	Weak transcription	HSMMtube	muscle
7	chr3:67660000-67686000	Weak transcription	Gastric	stomach
8	chr3:67660000-67697200	Weak transcription	Lung	lung
9	chr3:67660000-67697400	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr3:67660600-67691600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr3:67661200-67685800	Weak transcription	Pancreas	Pancrea
12	chr3:67661200-67704000	Weak transcription	Fetal Kidney	kidney
13	chr3:67661400-67685200	Weak transcription	NHLF	lung
14	chr3:67661400-67699400	Weak transcription	Stomach Smooth Muscle	stomach
15	chr3:67661400-67700000	Weak transcription	Ovary	ovary
16	chr3:67661400-67701000	Weak transcription	Fetal Lung	lung
17	chr3:67661400-67704000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr3:67661600-67684600	Weak transcription	Osteobl	bone
19	chr3:67661600-67685200	Weak transcription	NHEK	skin
20	chr3:67661600-67703600	Weak transcription	Rectal Smooth Muscle	rectum
21	chr3:67662600-67693000	Weak transcription	HepG2	liver
22	chr3:67665000-67692800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr3:67665200-67692000	Weak transcription	Colon Smooth Muscle	Colon
24	chr3:67668200-67684600	Weak transcription	NHDF-Ad	bronchial
25	chr3:67668200-67685200	Weak transcription	HMEC	breast
26	chr3:67668200-67687400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr3:67668400-67699600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr3:67668600-67696600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr3:67669200-67691800	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr3:67670200-67703400	Weak transcription	Aorta	Aorta
31	chr3:67670400-67685000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr3:67670400-67687400	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr3:67670400-67694000	Weak transcription	Fetal Muscle Leg	muscle
34	chr3:67670600-67685000	Weak transcription	Primary B cells from peripheral blood	blood
35	chr3:67670600-67696200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr3:67670600-67699000	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr3:67670800-67685000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr3:67670800-67685600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr3:67670800-67687400	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr3:67670800-67703200	Weak transcription	Adipose Nuclei	Adipose
41	chr3:67671000-67686000	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr3:67671000-67687000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr3:67671000-67700600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr3:67671400-67685200	Weak transcription	Duodenum Mucosa	Duodenum
45	chr3:67671400-67685400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr3:67671400-67685400	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr3:67671400-67692600	Weak transcription	Fetal Intestine Small	intestine
48	chr3:67671800-67697800	Weak transcription	Dnd41	blood
49	chr3:67672600-67685200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr3:67672600-67685200	Weak transcription	Monocytes-CD14+_RO01746	blood

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