Variant report

Variant	rs28379386
Chromosome Location	chr5:176983133-176983134
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:176983072-176983184	HepG2	liver:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:176977711..176979308-chr5:176982020..176983913,2	MCF-7	breast:
2	chr5:176963212..176964904-chr5:176981588..176983915,2	K562	blood:
3	chr5:176923072..176926532-chr5:176980245..176983139,4	K562	blood:
4	chr5:176942339..176946956-chr5:176980507..176983955,5	MCF-7	breast:
5	chr5:176982061..176985671-chr5:176988517..176991633,3	K562	blood:
6	chr5:176980839..176983786-chr5:177025411..177027346,2	MCF-7	breast:
7	chr5:176983102..176984997-chr5:177025610..177027655,2	K562	blood:

No data

Variant related genes	Relation type
FAM193B	TF binding region
ENSG00000183258	Chromatin interaction
ENSG00000196923	Chromatin interaction
ENSG00000027847	Chromatin interaction
ENSG00000146067	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs28392715	1.00[AMR][1000 genomes]
rs28396982	1.00[AMR][1000 genomes]
rs28464438	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28483466	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28491669	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28494836	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28587302	1.00[AMR][1000 genomes]
rs28613023	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28615269	1.00[AMR][1000 genomes]
rs28630512	0.83[AFR][1000 genomes]
rs28688891	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28723606	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs337387	1.00[AMR][1000 genomes]
rs337399	1.00[AMR][1000 genomes]
rs388783	1.00[AMR][1000 genomes]
rs4976650	1.00[AMR][1000 genomes]
rs5013573	1.00[AMR][1000 genomes]
rs58021881	1.00[AMR][1000 genomes]
rs6600953	1.00[AMR][1000 genomes]
rs7444245	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916108	chr5:176688459-177078723	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
2	nsv1024444	chr5:176751921-177427715	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	142 gene(s)	inside rSNPs	diseases
3	nsv883164	chr5:176780545-177003616	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
4	nsv883177	chr5:176868358-177003616	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
5	esv2752795	chr5:176898619-177488281	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
6	nsv1022630	chr5:176975746-177028082	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv537966	chr5:176975746-177028082	Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv883181	chr5:176978496-177034786	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
9	nsv883182	chr5:176980995-177322056	Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:176982000-176984200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:176982200-176983200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr5:176982200-176983200	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr5:176982200-176983800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr5:176982200-176983800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr5:176982200-176983800	Weak transcription	Fetal Intestine Large	intestine
7	chr5:176982200-176983800	Weak transcription	Fetal Intestine Small	intestine
8	chr5:176982200-176983800	Weak transcription	Fetal Thymus	thymus
9	chr5:176982200-176983800	Enhancers	Hela-S3	cervix
10	chr5:176982200-176983800	Weak transcription	HSMMtube	muscle
11	chr5:176982200-176983800	Enhancers	K562	blood
12	chr5:176982200-176984000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr5:176982200-176984000	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr5:176982200-176984000	Weak transcription	Primary hematopoietic stem cells	blood
15	chr5:176982200-176984000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr5:176982200-176984000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr5:176982200-176984000	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr5:176982200-176984000	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr5:176982200-176984000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr5:176982200-176984000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr5:176982200-176984000	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr5:176982200-176984000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr5:176982200-176984000	Weak transcription	Fetal Kidney	kidney
24	chr5:176982200-176984000	Weak transcription	GM12878-XiMat	blood
25	chr5:176982200-176984200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr5:176982200-176984200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr5:176982200-176984200	Weak transcription	Fetal Muscle Leg	muscle
28	chr5:176982200-176984200	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr5:176982200-176984200	Weak transcription	A549	lung
30	chr5:176982200-176984600	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr5:176982200-176985000	Enhancers	Psoas Muscle	Psoas
32	chr5:176982200-176985200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr5:176982200-176986000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr5:176982200-176986200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr5:176982200-176986200	Weak transcription	HMEC	breast
36	chr5:176982200-176989200	Weak transcription	Spleen	Spleen
37	chr5:176982400-176983200	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr5:176982400-176984000	Weak transcription	Primary T cells from cord blood	blood
39	chr5:176982400-176984000	Weak transcription	NHLF	lung
40	chr5:176982400-176984400	Weak transcription	Fetal Muscle Trunk	muscle
41	chr5:176982600-176983800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr5:176982600-176983800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr5:176982600-176983800	Weak transcription	NHEK	skin
44	chr5:176982600-176984000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr5:176982600-176984000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr5:176982600-176984000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr5:176982600-176984000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr5:176982600-176984000	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr5:176982600-176985400	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr5:176982600-176991400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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