Variant report

Variant	rs6535234
Chromosome Location	chr4:82075288-82075289
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:35)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:35 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAF1	chr4:82074825-82075484	H1-hESC	embryonic stem cell:	n/a	n/a
2	FOXA2	chr4:82075084-82075520	A549	lung:	n/a	n/a
3	TBP	chr4:82074693-82075297	H1-hESC	embryonic stem cell:	n/a	n/a
4	HEY1	chr4:82075108-82075418	K562	blood:	n/a	n/a
5	POLR2A	chr4:82075226-82075419	A549	lung:	n/a	n/a
6	YY1	chr4:82075085-82075393	H1-hESC	embryonic stem cell:	n/a	n/a
7	RCOR1	chr4:82075102-82075306	K562	blood:	n/a	n/a
8	POLR2A	chr4:82075025-82075464	A549	lung:	n/a	n/a
9	YY1	chr4:82075176-82075289	K562	blood:	n/a	n/a
10	HEY1	chr4:82075200-82075464	K562	blood:	n/a	n/a
11	POLR2A	chr4:82075180-82075358	Hela-S3	cervix:	n/a	n/a
12	YY1	chr4:82075151-82075308	GM12891	blood:	n/a	n/a
13	TAF1	chr4:82074748-82075491	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr4:82075286-82075391	A549	lung:	n/a	n/a
15	POLR2A	chr4:82075097-82075315	ECC-1	luminal epithelium:	n/a	n/a
16	YY1	chr4:82074764-82075393	H1-hESC	embryonic stem cell:	n/a	chr4:82074918-82074930
17	FOXA1	chr4:82075139-82075442	HepG2	liver:	n/a	n/a
18	POLR2A	chr4:82074841-82075462	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr4:82074961-82075377	A549	lung:	n/a	n/a
20	POLR2A	chr4:82075237-82075369	MCF-7	breast:	n/a	n/a
21	EGR1	chr4:82075159-82075308	K562	blood:	n/a	n/a
22	POLR2A	chr4:82074566-82075740	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr4:82074859-82075434	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr4:82075113-82075390	K562	blood:	n/a	n/a
25	REST	chr4:82075090-82075313	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr4:82075206-82075445	A549	lung:	n/a	n/a
27	POLR2A	chr4:82075104-82075302	HCT-116	colon:	n/a	n/a
28	TAF1	chr4:82074714-82075344	A549	lung:	n/a	n/a
29	POLR2A	chr4:82075235-82075371	MCF-7	breast:	n/a	n/a
30	POLR2A	chr4:82075098-82075486	H1-hESC	embryonic stem cell:	n/a	n/a
31	YY1	chr4:82075088-82075393	K562	blood:	n/a	n/a
32	POLR2A	chr4:82075003-82075412	Hela-S3	cervix:	n/a	n/a
33	YY1	chr4:82074788-82075500	A549	lung:	n/a	chr4:82074918-82074930
34	FOXA2	chr4:82074989-82075760	A549	lung:	n/a	n/a
35	POLR2A	chr4:82074776-82075470	H1-hESC	embryonic stem cell:	n/a	n/a

No data

Variant related genes	Relation type
PRKG2	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1078980	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11722019	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11722928	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11722958	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11736177	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11941243	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1982283	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs751295	0.82[EUR][1000 genomes]
rs7687935	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7688672	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7696645	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9992933	0.81[EUR][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:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:82071000-82085400	Weak transcription	NHDF-Ad	bronchial
2	chr4:82074200-82075400	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr4:82074400-82075400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr4:82074400-82075400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr4:82074400-82075400	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr4:82074400-82075400	Active TSS	Rectal Smooth Muscle	rectum
7	chr4:82074400-82075800	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr4:82074600-82075400	Active TSS	H1 Cell Line	embryonic stem cell
9	chr4:82074600-82075400	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr4:82074600-82075400	Active TSS	Colonic Mucosa	Colon
11	chr4:82074600-82075400	Active TSS	Fetal Intestine Large	intestine
12	chr4:82074600-82075400	Active TSS	A549	lung
13	chr4:82074600-82075400	Active TSS	Hela-S3	cervix
14	chr4:82074800-82075400	Active TSS	H9 Cell Line	embryonic stem cell
15	chr4:82074800-82075400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr4:82074800-82075400	Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr4:82074800-82075400	Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr4:82074800-82075400	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr4:82074800-82075400	Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr4:82074800-82075400	Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr4:82074800-82075400	Active TSS	Primary T helper cells fromperipheralblood	blood
22	chr4:82074800-82075400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
23	chr4:82074800-82075400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr4:82074800-82075400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr4:82074800-82075400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr4:82074800-82075400	Active TSS	Duodenum Mucosa	Duodenum
27	chr4:82074800-82075400	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr4:82074800-82075400	Active TSS	Esophagus	oesophagus
29	chr4:82074800-82075400	Active TSS	Fetal Intestine Small	intestine
30	chr4:82074800-82075400	Active TSS	Rectal Mucosa Donor 31	rectum
31	chr4:82074800-82075400	Active TSS	K562	blood
32	chr4:82075000-82075400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr4:82075000-82075400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr4:82075000-82075400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr4:82075000-82075400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr4:82075000-82075400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr4:82075000-82075400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr4:82075000-82075400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr4:82075000-82075400	Active TSS	Primary T cells fromperipheralblood	blood
40	chr4:82075000-82075400	Active TSS	Primary hematopoietic stem cells short term culture	blood
41	chr4:82075000-82075400	Active TSS	Primary T helper naive cells from peripheral blood	blood
42	chr4:82075000-82075400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
43	chr4:82075000-82075400	Active TSS	Primary T helper cells PMA-I stimulated	--
44	chr4:82075000-82075400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr4:82075000-82075400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
46	chr4:82075000-82075400	Active TSS	Primary T killer memory cells from peripheral blood	blood
47	chr4:82075000-82075400	Active TSS	Muscle Satellite Cultured Cells	--
48	chr4:82075000-82075400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr4:82075000-82075400	Active TSS	Adipose Nuclei	Adipose
50	chr4:82075000-82075400	Active TSS	Fetal Adrenal Gland	Adrenal Gland

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