Variant report

Variant	rs3181247
Chromosome Location	chr14:24808388-24808389
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	USF2	chr14:24808382-24808497	GM12878	blood:	n/a	n/a
2	ELF1	chr14:24808366-24809470	GM12878	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:24768283..24771076-chr14:24807728..24810560,2	MCF-7	breast:
2	chr14:24803661..24805578-chr14:24807953..24810050,2	K562	blood:
3	chr14:24789439..24822082-chr14:24898039..24913135,99	MCF-7	breast:
4	chr14:24791358..24808812-chr14:24895309..24913599,55	K562	blood:
5	chr14:24807630..24809166-chr14:24824491..24827164,2	MCF-7	breast:
6	chr14:24781460..24810019-chr14:24892340..24914262,110	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-934B9.3.1-1	chr14:24808363-24808803	NONHSAT036051

No data

Variant related genes	Relation type
ADCY4	TF binding region
ENSG00000258973	TF binding region
RIPK3	TF binding region
ENSG00000100445	Chromatin interaction
ENSG00000100441	Chromatin interaction
ENSG00000196943	Chromatin interaction
ENSG00000157379	Chromatin interaction
ENSG00000129467	Chromatin interaction
ENSG00000139899	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10143642	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10146747	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11844732	0.95[EUR][1000 genomes]
rs12323359	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28379107	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28453149	1.00[AMR][1000 genomes]
rs28534905	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28620990	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3212244	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3212249	0.95[EUR][1000 genomes]
rs3212250	0.95[EUR][1000 genomes]
rs3212251	0.95[EUR][1000 genomes]
rs3212252	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3212253	0.95[EUR][1000 genomes]
rs34106261	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs45537534	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56337365	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041336	chr14:24726564-25527319	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542000	chr14:24726564-25527319	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv564060	chr14:24776401-24809795	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3181247	RIPK3	cis	Skin Sun Exposed Lower leg	GTEx
rs3181247	RIPK3	cis	Esophagus Mucosa	GTEx

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24805400-24808400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr14:24805600-24808400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr14:24806400-24808400	Enhancers	Stomach Mucosa	stomach
4	chr14:24806800-24808400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr14:24807400-24808400	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr14:24807600-24808400	Genic enhancers	Primary B cells from peripheral blood	blood
7	chr14:24807600-24808400	Enhancers	Primary hematopoietic stem cells	blood
8	chr14:24807600-24808400	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr14:24807600-24808400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr14:24807600-24808400	Enhancers	Esophagus	oesophagus
11	chr14:24807600-24808400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr14:24807800-24808400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr14:24807800-24808400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr14:24807800-24808400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr14:24807800-24808400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr14:24807800-24808400	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr14:24807800-24808400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr14:24807800-24808400	Enhancers	Colon Smooth Muscle	Colon
19	chr14:24807800-24808400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
20	chr14:24807800-24808400	Bivalent Enhancer	Fetal Intestine Large	intestine
21	chr14:24807800-24808400	Enhancers	Right Atrium	heart
22	chr14:24807800-24808600	Flanking Active TSS	Duodenum Mucosa	Duodenum
23	chr14:24807800-24808600	Enhancers	Lung	lung
24	chr14:24807800-24808600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
25	chr14:24807800-24809200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr14:24807800-24809600	Flanking Active TSS	Primary B cells from cord blood	blood
27	chr14:24808000-24808400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr14:24808000-24808400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr14:24808000-24808400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
30	chr14:24808000-24808400	Enhancers	Liver	Liver
31	chr14:24808000-24808400	Bivalent Enhancer	Brain Substantia Nigra	brain
32	chr14:24808000-24808400	Bivalent Enhancer	Fetal Muscle Leg	muscle
33	chr14:24808000-24808400	Enhancers	Placenta	Placenta
34	chr14:24808000-24808400	Bivalent Enhancer	Fetal Stomach	stomach
35	chr14:24808000-24808400	Enhancers	Small Intestine	intestine
36	chr14:24808000-24808600	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr14:24808000-24808600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
38	chr14:24808000-24808600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
39	chr14:24808000-24808600	Enhancers	Spleen	Spleen
40	chr14:24808000-24808800	Enhancers	HUVEC	blood vessel
41	chr14:24808000-24809200	Flanking Active TSS	Colonic Mucosa	Colon
42	chr14:24808000-24809200	Flanking Active TSS	Right Ventricle	heart
43	chr14:24808000-24809400	Flanking Active TSS	Adipose Nuclei	Adipose
44	chr14:24808000-24809400	Active TSS	Rectal Smooth Muscle	rectum
45	chr14:24808000-24809600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr14:24808000-24809800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
47	chr14:24808200-24808400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
48	chr14:24808200-24808400	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr14:24808200-24808400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr14:24808200-24808400	Enhancers	Primary hematopoietic stem cells short term culture	blood

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