Variant report

Variant	rs72732848
Chromosome Location	chr5:34942687-34942688
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:34942174-34942804	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:34938649..34941463-chr5:34942242..34944839,2	MCF-7	breast:
2	chr5:34941712..34943831-chr5:34944745..34947838,3	K562	blood:

Variant related genes	Relation type
DNAJC21	TF binding region
ENSG00000168724	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs72730584	1.00[AFR][1000 genomes]
rs72732874	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015535	chr5:34798601-34981782	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	86 gene(s)	inside rSNPs	diseases
2	nsv1021593	chr5:34798601-34983146	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers 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	86 gene(s)	inside rSNPs	diseases
3	nsv1020005	chr5:34836854-34960310	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	85 gene(s)	inside rSNPs	diseases
4	nsv462119	chr5:34853965-34957444	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	84 gene(s)	inside rSNPs	diseases
5	nsv597809	chr5:34853965-34957444	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	84 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:34930800-34954800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:34931200-34950600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:34931200-34965200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:34931200-34967200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:34931400-34943600	Weak transcription	Stomach Mucosa	stomach
6	chr5:34931400-34951200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr5:34932600-34945800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr5:34932600-34957200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:34932800-34945600	Strong transcription	Fetal Muscle Leg	muscle
10	chr5:34932800-34945800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr5:34932800-34950600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr5:34933000-34944600	Strong transcription	Primary B cells from cord blood	blood
13	chr5:34933200-34942800	Strong transcription	K562	blood
14	chr5:34933400-34955000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr5:34933600-34947400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr5:34933600-34955000	Strong transcription	Duodenum Mucosa	Duodenum
17	chr5:34933600-34955600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr5:34933600-34956600	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr5:34933600-34956600	Strong transcription	Liver	Liver
20	chr5:34933600-34956800	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr5:34933600-34957600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:34933600-34957600	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr5:34933800-34945400	Strong transcription	Fetal Intestine Large	intestine
24	chr5:34933800-34953200	Strong transcription	Dnd41	blood
25	chr5:34933800-34956800	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr5:34933800-34958800	Strong transcription	Hela-S3	cervix
27	chr5:34934000-34956800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr5:34934600-34955800	Strong transcription	Placenta	Placenta
29	chr5:34934800-34946400	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr5:34934800-34953000	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr5:34934800-34955800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr5:34934800-34957600	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr5:34935000-34945600	Strong transcription	Fetal Thymus	thymus
34	chr5:34935000-34946200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr5:34935000-34954600	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr5:34935000-34955600	Strong transcription	Primary B cells from peripheral blood	blood
37	chr5:34935000-34956400	Strong transcription	Primary T helper cells PMA-I stimulated	--
38	chr5:34935000-34958200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr5:34935200-34947600	Strong transcription	Osteobl	bone
40	chr5:34935200-34956600	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr5:34935200-34957200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr5:34935400-34946000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr5:34935400-34956400	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr5:34935600-34948600	Strong transcription	NH-A	brain
45	chr5:34935600-34955800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr5:34935800-34943000	Strong transcription	NHLF	lung
47	chr5:34935800-34943200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr5:34935800-34944600	Strong transcription	NHDF-Ad	bronchial
49	chr5:34935800-34945600	Strong transcription	H1 Cell Line	embryonic stem cell
50	chr5:34935800-34945600	Strong transcription	Fetal Muscle Trunk	muscle

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