Variant report

Variant	rs72861645
Chromosome Location	chr4:78075293-78075294
allele	A/C
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	chr4:78074226-78075659	Raji	blood:	n/a	n/a
2	EBF1	chr4:78075179-78075555	GM12878	blood:	n/a	chr4:78075288-78075299

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:78020522..78022856-chr4:78073841..78076321,2	MCF-7	breast:
2	chr4:77993925..77999822-chr4:78072652..78081114,32	MCF-7	breast:

Variant related genes	Relation type
RNU6-1187P	TF binding region
CCNG2	TF binding region
ENSG00000118816	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1050603	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4150068	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4150075	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4150077	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4150081	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72861619	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72861638	1.00[AMR][1000 genomes]
rs72861642	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72861657	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72861660	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72861662	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72861671	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72861682	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72861683	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879500	chr4:78045960-78115334	Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78067800-78077600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr4:78068000-78076000	Weak transcription	HMEC	breast
3	chr4:78068600-78075800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr4:78068600-78076600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr4:78069200-78077400	Weak transcription	HSMMtube	muscle
6	chr4:78069400-78076400	Weak transcription	Hela-S3	cervix
7	chr4:78071200-78077600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr4:78072000-78077400	Enhancers	Primary B cells from peripheral blood	blood
9	chr4:78072400-78077400	Enhancers	Fetal Thymus	thymus
10	chr4:78073200-78075800	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr4:78073200-78076800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:78073200-78076800	Enhancers	Fetal Lung	lung
13	chr4:78073200-78077400	Enhancers	Primary T cells from cord blood	blood
14	chr4:78073200-78077400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
15	chr4:78073400-78075600	Enhancers	Thymus	Thymus
16	chr4:78073400-78076800	Enhancers	Fetal Intestine Small	intestine
17	chr4:78073400-78077200	Enhancers	Fetal Intestine Large	intestine
18	chr4:78073600-78077000	Enhancers	Duodenum Mucosa	Duodenum
19	chr4:78073600-78077400	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr4:78073600-78077600	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr4:78073800-78076800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr4:78074000-78076200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr4:78074000-78076400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr4:78074000-78076400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr4:78074000-78076600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr4:78074000-78077000	Enhancers	Primary hematopoietic stem cells	blood
27	chr4:78074000-78077200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr4:78074000-78077400	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr4:78074200-78075600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr4:78074200-78076000	Enhancers	Primary B cells from cord blood	blood
31	chr4:78074200-78076000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr4:78074200-78076200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr4:78074200-78076400	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr4:78074200-78076400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr4:78074200-78076600	Weak transcription	Stomach Mucosa	stomach
36	chr4:78074200-78077200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr4:78074400-78075400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr4:78074400-78075400	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr4:78074400-78076000	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr4:78074400-78076200	Weak transcription	Fetal Kidney	kidney
41	chr4:78074400-78076400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr4:78074400-78076400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr4:78074400-78076800	Weak transcription	Placenta	Placenta
44	chr4:78074600-78075400	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr4:78074600-78075800	Enhancers	Rectal Mucosa Donor 29	rectum
46	chr4:78074800-78075600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr4:78074800-78076400	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr4:78074800-78076600	Weak transcription	Fetal Muscle Leg	muscle
49	chr4:78074800-78076800	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr4:78074800-78077200	Enhancers	Cortex derived primary cultured neurospheres	brain

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