Variant report

Variant	rs28791046
Chromosome Location	chr4:128822641-128822642
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10009032	1.00[AMR][1000 genomes]
rs10011964	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10022669	1.00[AMR][1000 genomes]
rs10023183	1.00[AMR][1000 genomes]
rs10023194	1.00[AMR][1000 genomes]
rs10024724	1.00[AMR][1000 genomes]
rs10026828	1.00[AMR][1000 genomes]
rs10032340	1.00[AMR][1000 genomes]
rs10034548	1.00[AMR][1000 genomes]
rs10034679	1.00[AMR][1000 genomes]
rs13434829	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17012567	1.00[AMR][1000 genomes]
rs28436595	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28489758	1.00[AMR][1000 genomes]
rs28655300	1.00[AMR][1000 genomes]
rs28742883	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28765108	1.00[AMR][1000 genomes]
rs28786410	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4324559	1.00[AMR][1000 genomes]
rs4550948	1.00[AMR][1000 genomes]
rs9992298	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879915	chr4:128167093-129150590	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv817326	chr4:128292216-128915201	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv879917	chr4:128478408-128841252	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv879922	chr4:128554404-128901402	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv879923	chr4:128554404-129068179	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
6	esv1801492	chr4:128566686-128934513	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	esv1792644	chr4:128566686-129133826	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
8	esv1795770	chr4:128566686-129145581	Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
9	esv1793579	chr4:128577439-128871309	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
10	esv3431515	chr4:128657260-128932577	Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
11	nsv532740	chr4:128710011-129035335	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
12	esv3416036	chr4:128782694-129133956	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
13	nsv1033701	chr4:128803159-129095018	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
14	nsv1019193	chr4:128810527-128949320	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
15	esv1841203	chr4:128817558-129043809	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:128803000-128826200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:128803400-128841800	Weak transcription	Brain Germinal Matrix	brain
3	chr4:128809200-128823000	Weak transcription	Fetal Stomach	stomach
4	chr4:128809400-128826200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr4:128814000-128838200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr4:128815000-128839200	Weak transcription	NHDF-Ad	bronchial
7	chr4:128815400-128839400	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr4:128817400-128823600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr4:128817400-128839800	Weak transcription	HSMM	muscle
10	chr4:128817400-128841600	Weak transcription	Thymus	Thymus
11	chr4:128817400-128849400	Weak transcription	Osteobl	bone
12	chr4:128817600-128823800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr4:128817600-128826600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr4:128818400-128826200	Weak transcription	K562	blood
15	chr4:128818400-128838400	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr4:128818800-128824400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr4:128818800-128826200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr4:128818800-128837800	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr4:128818800-128863000	Weak transcription	A549	lung
20	chr4:128819000-128823200	Weak transcription	HUVEC	blood vessel
21	chr4:128819000-128826200	Weak transcription	HepG2	liver
22	chr4:128820000-128839200	Weak transcription	HMEC	breast
23	chr4:128820200-128833200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr4:128820400-128827600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr4:128820400-128835000	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr4:128821000-128824600	Weak transcription	Fetal Thymus	thymus
27	chr4:128821000-128838800	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr4:128821000-128841600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr4:128821200-128823800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr4:128821200-128837800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr4:128821200-128838000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr4:128821200-128838000	Weak transcription	Dnd41	blood
33	chr4:128821200-128838400	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr4:128821200-128839000	Weak transcription	HUES64 Cell Line	embryonic stem cell

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