Variant report

Variant	rs67110428
Chromosome Location	chr5:128450654-128450655
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:128430725..128432817-chr5:128449870..128452474,3	K562	blood:
2	chr5:128448676..128453642-chr5:128454488..128460392,5	K562	blood:
3	chr5:128438665..128441668-chr5:128448415..128451376,3	K562	blood:
4	chr5:128429088..128431633-chr5:128448995..128451106,2	MCF-7	breast:
5	chr5:128428697..128430570-chr5:128449336..128453122,3	K562	blood:

Variant related genes	Relation type
ENSG00000066583	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10477691	0.85[ASN][1000 genomes]
rs17768075	0.83[EUR][1000 genomes]
rs3756747	0.86[ASN][1000 genomes]
rs3822831	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59932289	0.80[ASN][1000 genomes]
rs6877082	0.90[ASN][1000 genomes]
rs723552	0.83[EUR][1000 genomes]
rs72505654	0.85[ASN][1000 genomes]
rs7702153	0.86[ASN][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	nsv830485	chr5:128298622-128480492	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv882842	chr5:128301971-128552706	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv599701	chr5:128328165-128773052	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	nsv882847	chr5:128368505-128665719	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
5	nsv882848	chr5:128378225-128516629	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
6	nsv882849	chr5:128446692-128501738	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:128431400-128457400	Weak transcription	Lung	lung
2	chr5:128431600-128454200	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr5:128432200-128454600	Weak transcription	Aorta	Aorta
4	chr5:128433400-128453800	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr5:128434000-128455600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr5:128434000-128458400	Weak transcription	Esophagus	oesophagus
7	chr5:128434400-128454200	Weak transcription	Colonic Mucosa	Colon
8	chr5:128434400-128461800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr5:128434800-128461600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr5:128435200-128452800	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr5:128435200-128453000	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr5:128435200-128462200	Weak transcription	Pancreas	Pancrea
13	chr5:128435600-128453200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr5:128439600-128456200	Weak transcription	Spleen	Spleen
15	chr5:128440000-128452800	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr5:128440600-128452800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr5:128442200-128451000	Strong transcription	Primary T cells from cord blood	blood
18	chr5:128442800-128451800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr5:128443000-128459800	Weak transcription	Fetal Kidney	kidney
20	chr5:128443200-128450800	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr5:128443600-128454400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr5:128443600-128454400	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr5:128443800-128452600	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr5:128444000-128453600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr5:128444000-128453800	Weak transcription	Thymus	Thymus
26	chr5:128444000-128454200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr5:128444000-128455000	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr5:128444000-128460200	Weak transcription	Primary B cells from peripheral blood	blood
29	chr5:128444000-128461600	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr5:128444000-128461600	Weak transcription	Rectal Smooth Muscle	rectum
31	chr5:128444000-128462000	Weak transcription	Primary hematopoietic stem cells	blood
32	chr5:128444000-128462400	Weak transcription	Gastric	stomach
33	chr5:128444200-128451200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr5:128444600-128461600	Weak transcription	Fetal Intestine Small	intestine
35	chr5:128445000-128455400	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr5:128445200-128452800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr5:128445400-128452000	Weak transcription	Fetal Thymus	thymus
38	chr5:128446000-128452200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr5:128446400-128456000	Weak transcription	Ovary	ovary
40	chr5:128446800-128451800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr5:128446800-128452800	Weak transcription	Fetal Stomach	stomach
42	chr5:128446800-128454400	Weak transcription	Brain Anterior Caudate	brain
43	chr5:128447200-128454200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr5:128447400-128452200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr5:128447400-128461600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr5:128447600-128455600	Weak transcription	GM12878-XiMat	blood
47	chr5:128448400-128454200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr5:128448600-128452400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr5:128448600-128453200	Weak transcription	Fetal Heart	heart
50	chr5:128448600-128453800	Weak transcription	Fetal Lung	lung

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