Variant report

Variant	rs28758819
Chromosome Location	chr4:82074992-82074993
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	YY1	chr4:82074741-82075020	HCT-116	colon:	n/a	chr4:82074918-82074930
2	YY1	chr4:82074774-82074996	H1-hESC	embryonic stem cell:	n/a	chr4:82074918-82074930
3	TAF1	chr4:82074825-82075484	H1-hESC	embryonic stem cell:	n/a	n/a
4	TBP	chr4:82074693-82075297	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPB	chr4:82074553-82075216	A549	lung:	n/a	chr4:82074711-82074722
6	HEY1	chr4:82074840-82075091	K562	blood:	n/a	n/a
7	POLR2A	chr4:82074760-82075012	HCT-116	colon:	n/a	n/a
8	TAF1	chr4:82074748-82075491	H1-hESC	embryonic stem cell:	n/a	n/a
9	CEBPB	chr4:82074459-82075024	HCT-116	colon:	n/a	chr4:82074711-82074722
10	YY1	chr4:82074764-82075393	H1-hESC	embryonic stem cell:	n/a	chr4:82074918-82074930
11	POLR2A	chr4:82074841-82075462	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr4:82074961-82075377	A549	lung:	n/a	n/a
13	POLR2A	chr4:82074566-82075740	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr4:82074859-82075434	H1-hESC	embryonic stem cell:	n/a	n/a
15	MAX	chr4:82074890-82075136	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr4:82074895-82075134	MCF-7	breast:	n/a	n/a
17	TAF1	chr4:82074714-82075344	A549	lung:	n/a	n/a
18	POLR2A	chr4:82074790-82075095	H1-hESC	embryonic stem cell:	n/a	n/a
19	TBP	chr4:82074836-82075093	Hela-S3	cervix:	n/a	n/a
20	CEBPB	chr4:82074514-82075285	Hela-S3	cervix:	n/a	chr4:82074711-82074722
21	YY1	chr4:82074788-82075500	A549	lung:	n/a	chr4:82074918-82074930
22	FOXA2	chr4:82074989-82075760	A549	lung:	n/a	n/a
23	POLR2A	chr4:82074776-82075470	H1-hESC	embryonic stem cell:	n/a	n/a
24	RCOR1	chr4:82074731-82075010	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
PRKG2	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10023642	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10029494	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10031760	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17005064	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28377778	0.84[AMR][1000 genomes]
rs28539711	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28550356	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28550971	0.84[AMR][1000 genomes]
rs28625925	0.84[AMR][1000 genomes]
rs28664024	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28669336	0.84[AMR][1000 genomes]
rs28727457	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28882451	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999729	chr4:81802554-82627820	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv537156	chr4:81802554-82627820	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv829984	chr4:81979988-82113977	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	esv1822437	chr4:82025743-82118996	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:82052000-82075000	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr4:82054600-82075000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr4:82059600-82075000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr4:82071000-82085400	Weak transcription	NHDF-Ad	bronchial
5	chr4:82073000-82075000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:82074200-82075200	Enhancers	HMEC	breast
7	chr4:82074200-82075400	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr4:82074400-82075000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr4:82074400-82075000	Flanking Active TSS	NHEK	skin
10	chr4:82074400-82075200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:82074400-82075200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr4:82074400-82075400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr4:82074400-82075400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr4:82074400-82075400	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr4:82074400-82075400	Active TSS	Rectal Smooth Muscle	rectum
16	chr4:82074400-82075800	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr4:82074600-82075000	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr4:82074600-82075400	Active TSS	H1 Cell Line	embryonic stem cell
19	chr4:82074600-82075400	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr4:82074600-82075400	Active TSS	Colonic Mucosa	Colon
21	chr4:82074600-82075400	Active TSS	Fetal Intestine Large	intestine
22	chr4:82074600-82075400	Active TSS	A549	lung
23	chr4:82074600-82075400	Active TSS	Hela-S3	cervix
24	chr4:82074800-82075000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr4:82074800-82075200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr4:82074800-82075400	Active TSS	H9 Cell Line	embryonic stem cell
27	chr4:82074800-82075400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr4:82074800-82075400	Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr4:82074800-82075400	Active TSS	HUES64 Cell Line	embryonic stem cell
30	chr4:82074800-82075400	Active TSS	iPS-15b Cell Line	embryonic stem cell
31	chr4:82074800-82075400	Active TSS	iPS-18 Cell Line	embryonic stem cell
32	chr4:82074800-82075400	Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr4:82074800-82075400	Active TSS	Primary T helper cells fromperipheralblood	blood
34	chr4:82074800-82075400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
35	chr4:82074800-82075400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr4:82074800-82075400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr4:82074800-82075400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr4:82074800-82075400	Active TSS	Duodenum Mucosa	Duodenum
39	chr4:82074800-82075400	Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr4:82074800-82075400	Active TSS	Esophagus	oesophagus
41	chr4:82074800-82075400	Active TSS	Fetal Intestine Small	intestine
42	chr4:82074800-82075400	Active TSS	Rectal Mucosa Donor 31	rectum
43	chr4:82074800-82075400	Active TSS	K562	blood

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