Variant report

Variant	rs4544732
Chromosome Location	chr4:78075834-78075835
allele	C/T
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	REST	chr4:78075441-78076503	H1-neurons	neurons:	n/a	chr4:78075458-78075476

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
CCNG2	TF binding region
RNU6-1187P	TF binding region
ENSG00000118816	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10016483	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10016676	0.93[ASN][1000 genomes]
rs10026646	0.95[CHB][hapmap];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11097704	0.83[JPT][hapmap]
rs11724432	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12500115	0.83[CEU][hapmap];0.87[CHB][hapmap];0.83[JPT][hapmap]
rs12504752	0.82[JPT][hapmap]
rs17397604	0.96[ASN][1000 genomes]
rs28503908	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs28540841	0.83[ASN][1000 genomes]
rs28648488	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4150106	1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4241604	0.86[JPT][hapmap]
rs4302483	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4518274	0.86[JPT][hapmap]
rs4859473	0.83[JPT][hapmap]
rs4859474	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4859751	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4859752	0.83[JPT][hapmap]
rs55663411	0.96[ASN][1000 genomes]
rs6849124	0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6849534	0.91[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs729240	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7438755	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7672053	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7688769	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][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:74 , 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	chr4:78068600-78076600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr4:78069200-78077400	Weak transcription	HSMMtube	muscle
5	chr4:78069400-78076400	Weak transcription	Hela-S3	cervix
6	chr4:78071200-78077600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr4:78072000-78077400	Enhancers	Primary B cells from peripheral blood	blood
8	chr4:78072400-78077400	Enhancers	Fetal Thymus	thymus
9	chr4:78073200-78076800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr4:78073200-78076800	Enhancers	Fetal Lung	lung
11	chr4:78073200-78077400	Enhancers	Primary T cells from cord blood	blood
12	chr4:78073200-78077400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr4:78073400-78076800	Enhancers	Fetal Intestine Small	intestine
14	chr4:78073400-78077200	Enhancers	Fetal Intestine Large	intestine
15	chr4:78073600-78077000	Enhancers	Duodenum Mucosa	Duodenum
16	chr4:78073600-78077400	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr4:78073600-78077600	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr4:78073800-78076800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr4:78074000-78076200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr4:78074000-78076400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr4:78074000-78076400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr4:78074000-78076600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr4:78074000-78077000	Enhancers	Primary hematopoietic stem cells	blood
24	chr4:78074000-78077200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr4:78074000-78077400	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr4:78074200-78076000	Enhancers	Primary B cells from cord blood	blood
27	chr4:78074200-78076000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr4:78074200-78076200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr4:78074200-78076400	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr4:78074200-78076400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr4:78074200-78076600	Weak transcription	Stomach Mucosa	stomach
32	chr4:78074200-78077200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr4:78074400-78076000	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr4:78074400-78076200	Weak transcription	Fetal Kidney	kidney
35	chr4:78074400-78076400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr4:78074400-78076400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr4:78074400-78076800	Weak transcription	Placenta	Placenta
38	chr4:78074800-78076400	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr4:78074800-78076600	Weak transcription	Fetal Muscle Leg	muscle
40	chr4:78074800-78076800	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr4:78074800-78077200	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr4:78074800-78078000	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr4:78075000-78077200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr4:78075200-78076400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr4:78075200-78076600	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr4:78075200-78076800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
47	chr4:78075200-78077000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr4:78075200-78077000	Enhancers	Brain Cingulate Gyrus	brain
49	chr4:78075200-78077400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr4:78075400-78076000	Weak transcription	Adipose Nuclei	Adipose

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