Variant report

Variant	rs2814982
Chromosome Location	chr6:34546560-34546561
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF143	chr6:34546409-34546754	K562	blood:	n/a	n/a
2	POLR2A	chr6:34546248-34546860	K562	blood:	n/a	n/a
3	POLR2A	chr6:34546288-34546747	K562	blood:	n/a	n/a
4	ZNF384	chr6:34546270-34546621	K562	blood:	n/a	n/a
5	MAX	chr6:34546422-34546737	K562	blood:	n/a	n/a
6	ZNF143	chr6:34546416-34546732	GM12878	blood:	n/a	n/a
7	POLR2A	chr6:34546286-34546912	GM12878	blood:	n/a	n/a
8	ZNF143	chr6:34546522-34546612	Hela-S3	cervix:	n/a	n/a
9	FOSL2	chr6:34546206-34546618	HepG2	liver:	n/a	n/a
10	RCOR1	chr6:34546403-34546771	K562	blood:	n/a	n/a
11	POLR2A	chr6:34546550-34546762	GM12878	blood:	n/a	n/a
12	POLR2A	chr6:34546530-34546761	GM12878	blood:	n/a	n/a
13	POLR2A	chr6:34546240-34546995	GM12878	blood:	n/a	n/a
14	POLR2A	chr6:34546396-34546792	HepG2	liver:	n/a	n/a
15	POLR2A	chr6:34546295-34546815	Hela-S3	cervix:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:34544544..34547164-chr6:34547916..34551672,4	K562	blood:
2	chr6:34536153..34538160-chr6:34545936..34548526,2	MCF-7	breast:
3	chr6:34546025..34550946-chr6:34551862..34556143,7	K562	blood:

No data

Variant related genes	Relation type
ENSG00000196114	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs3756932	0.85[CHB][hapmap]
rs3778076	0.81[JPT][hapmap]
rs3800464	0.85[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022844	chr6:34317219-35060519	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv538195	chr6:34317219-35060519	Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	esv2758046	chr6:34382492-34714677	Genic enhancers Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	esv2759418	chr6:34382492-34714677	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv885785	chr6:34404636-34874002	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv885787	chr6:34458533-34546560	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
7	nsv885788	chr6:34464010-34551912	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
8	nsv1033583	chr6:34471572-34828372	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats 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	38 gene(s)	inside rSNPs	diseases
9	nsv885789	chr6:34474939-34546560	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
10	nsv885791	chr6:34483015-34546560	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
11	nsv516578	chr6:34483015-34561585	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
12	nsv885792	chr6:34507311-34607958	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
13	nsv1015306	chr6:34509776-34549107	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
14	nsv1032763	chr6:34509776-34552797	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
15	nsv1025472	chr6:34509776-34555969	Flanking Active TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
16	nsv1033534	chr6:34516588-34555969	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
17	nsv885793	chr6:34520267-34886436	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
18	nsv823667	chr6:34533015-34592524	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
19	nsv818410	chr6:34538544-34579431	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
20	nsv830640	chr6:34542489-34714677	Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

Variant related diseases (count:2)

Disease	PMID	Source
Cholesterol, total	24097068	GWAS catalog
Cholesterol, total	20686565	GWAS catalog

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2814982	PPARD	cis	lymphoblastoid	seeQTL

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34528800-34551400	Weak transcription	Right Atrium	heart
2	chr6:34530200-34548000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:34532800-34548200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:34535600-34563200	Weak transcription	A549	lung
5	chr6:34536800-34554400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr6:34536800-34556600	Weak transcription	Hela-S3	cervix
7	chr6:34537400-34552800	Weak transcription	Fetal Intestine Large	intestine
8	chr6:34538000-34555400	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr6:34538800-34550600	Weak transcription	Esophagus	oesophagus
10	chr6:34538800-34552600	Weak transcription	Right Ventricle	heart
11	chr6:34539600-34552800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr6:34540200-34548800	Weak transcription	Fetal Muscle Leg	muscle
13	chr6:34540800-34554000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr6:34541400-34548600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr6:34541600-34553200	Weak transcription	Lung	lung
16	chr6:34541800-34553400	Weak transcription	HepG2	liver
17	chr6:34542000-34553000	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr6:34542200-34548600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr6:34542200-34555400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr6:34542400-34553800	Weak transcription	Liver	Liver
21	chr6:34543200-34548600	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr6:34543200-34548600	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr6:34543200-34549000	Weak transcription	Fetal Intestine Small	intestine
24	chr6:34543200-34552200	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr6:34544200-34548600	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr6:34544200-34548600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr6:34544200-34548600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr6:34544200-34555000	Weak transcription	Pancreas	Pancrea
29	chr6:34544400-34548000	Weak transcription	Fetal Stomach	stomach
30	chr6:34544400-34548200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr6:34544400-34548600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr6:34544400-34548600	Weak transcription	Fetal Lung	lung
33	chr6:34544400-34551200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr6:34544600-34548600	Weak transcription	Spleen	Spleen
35	chr6:34544600-34549000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr6:34544600-34553600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr6:34544600-34553800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr6:34544800-34547400	Weak transcription	Fetal Heart	heart
39	chr6:34544800-34549000	Weak transcription	Fetal Muscle Trunk	muscle
40	chr6:34544800-34551000	Weak transcription	Placenta	Placenta
41	chr6:34545000-34550800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr6:34545000-34554400	Weak transcription	NHEK	skin
43	chr6:34545200-34548600	Weak transcription	Brain Anterior Caudate	brain
44	chr6:34545200-34552600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr6:34545200-34552800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr6:34545400-34549000	Weak transcription	Stomach Smooth Muscle	stomach
47	chr6:34545400-34554000	Weak transcription	Duodenum Mucosa	Duodenum
48	chr6:34545600-34550000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr6:34545800-34546800	Enhancers	Adipose Nuclei	Adipose
50	chr6:34545800-34548200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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