Variant report

Variant	rs73234005
Chromosome Location	chr5:128433468-128433469
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:128429058..128432172-chr5:128432458..128435695,7	MCF-7	breast:
2	chr5:128426917..128432397-chr5:128432508..128439991,15	K562	blood:

Variant related genes	Relation type
ENSG00000066583	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10060414	1.00[AMR][1000 genomes]
rs10478830	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6891218	1.00[AMR][1000 genomes]
rs73232500	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7730760	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7733386	1.00[AMR][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	nsv1015525	chr5:128335133-128443859	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
5	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
6	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

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:128430000-128433800	Active TSS	Stomach Smooth Muscle	stomach
2	chr5:128430200-128434600	Active TSS	GM12878-XiMat	blood
3	chr5:128431200-128447800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr5:128431400-128433600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr5:128431400-128443600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr5:128431400-128450600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr5:128431400-128457400	Weak transcription	Lung	lung
8	chr5:128431600-128433800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr5:128431600-128433800	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr5:128431600-128434000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr5:128431600-128434000	Enhancers	Small Intestine	intestine
12	chr5:128431600-128434200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr5:128431600-128434200	Enhancers	Hela-S3	cervix
14	chr5:128431600-128434400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr5:128431600-128434400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr5:128431600-128434600	Weak transcription	NHDF-Ad	bronchial
17	chr5:128431600-128435200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr5:128431600-128435200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr5:128431600-128435600	Enhancers	Fetal Lung	lung
20	chr5:128431600-128441200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr5:128431600-128441200	Weak transcription	Fetal Kidney	kidney
22	chr5:128431600-128442000	Weak transcription	Primary B cells from peripheral blood	blood
23	chr5:128431600-128442000	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr5:128431600-128442600	Weak transcription	Thymus	Thymus
25	chr5:128431600-128444000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr5:128431600-128446000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr5:128431600-128446400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr5:128431600-128450400	Weak transcription	Placenta	Placenta
29	chr5:128431600-128450400	Weak transcription	HSMM	muscle
30	chr5:128431600-128454200	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr5:128431800-128433600	Weak transcription	Brain Germinal Matrix	brain
32	chr5:128431800-128434000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr5:128431800-128434000	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr5:128431800-128434600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr5:128431800-128434600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr5:128431800-128434800	Enhancers	Primary T cells from cord blood	blood
37	chr5:128431800-128441600	Weak transcription	Primary B cells from cord blood	blood
38	chr5:128431800-128446400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr5:128432200-128433600	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr5:128432200-128433600	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr5:128432200-128434600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr5:128432200-128435000	Enhancers	Brain Substantia Nigra	brain
43	chr5:128432200-128442400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr5:128432200-128442600	Weak transcription	A549	lung
45	chr5:128432200-128442800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr5:128432200-128450400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr5:128432200-128454600	Weak transcription	Aorta	Aorta
48	chr5:128432400-128433600	Weak transcription	Brain Hippocampus Middle	brain
49	chr5:128432400-128433600	Weak transcription	Colon Smooth Muscle	Colon
50	chr5:128432400-128433600	Weak transcription	Esophagus	oesophagus

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