Variant report

Variant	rs28379107
Chromosome Location	chr14:24808842-24808843
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3A	chr14:24808637-24809216	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr14:24808653-24809351	GM12878	blood:	n/a	n/a
3	CTCF	chr14:24808720-24808870	GM12865	blood:	n/a	n/a
4	ELF1	chr14:24808366-24809470	GM12878	blood:	n/a	n/a
5	PML	chr14:24808801-24809477	GM12878	blood:	n/a	n/a
6	POLR2A	chr14:24808725-24809386	GM18951	blood:	n/a	n/a
7	CTCF	chr14:24808804-24808850	GM19238	blood:	n/a	n/a
8	CTCF	chr14:24808740-24808890	GM12865	blood:	n/a	n/a
9	POLR2A	chr14:24808810-24809455	GM12878	blood:	n/a	n/a
10	POLR2A	chr14:24808808-24809385	GM12878	blood:	n/a	n/a
11	CTCF	chr14:24808720-24808870	HUVEC	blood vessel:	n/a	n/a
12	BACH1	chr14:24808815-24808888	H1-hESC	embryonic stem cell:	n/a	n/a
13	RCOR1	chr14:24808792-24808987	GM12878	blood:	n/a	n/a

No data

(count:5 , 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	chr14:24807630..24809166-chr14:24824491..24827164,2	MCF-7	breast:
5	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	chr14:24808663-24809206	NONHSAT036053

No data

Variant related genes	Relation type
ENSG00000258973	TF binding region
RIPK3	TF binding region
ADCY4	TF binding region
ENSG00000139899	Chromatin interaction
ENSG00000196943	Chromatin interaction
ENSG00000100445	Chromatin interaction
ENSG00000129467	Chromatin interaction
ENSG00000157379	Chromatin interaction
ENSG00000100441	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	0.84[EUR][1000 genomes]
rs10146747	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11844732	0.95[EUR][1000 genomes]
rs12323359	0.84[EUR][1000 genomes]
rs28453149	0.88[AMR][1000 genomes]
rs28534905	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28620990	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3181247	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3212244	0.88[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	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3212253	0.95[EUR][1000 genomes]
rs34106261	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs45537534	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56337365	0.88[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
rs28379107	RIPK3	cis	Esophagus Mucosa	GTEx
rs28379107	RIPK3	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24807800-24809200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr14:24807800-24809600	Flanking Active TSS	Primary B cells from cord blood	blood
3	chr14:24808000-24809200	Flanking Active TSS	Colonic Mucosa	Colon
4	chr14:24808000-24809200	Flanking Active TSS	Right Ventricle	heart
5	chr14:24808000-24809400	Flanking Active TSS	Adipose Nuclei	Adipose
6	chr14:24808000-24809400	Active TSS	Rectal Smooth Muscle	rectum
7	chr14:24808000-24809600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr14:24808000-24809800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr14:24808200-24809000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr14:24808200-24809000	Flanking Active TSS	Pancreas	Pancrea
11	chr14:24808200-24809000	Active TSS	NHDF-Ad	bronchial
12	chr14:24808200-24809000	Active TSS	Osteobl	bone
13	chr14:24808200-24809200	Flanking Active TSS	GM12878-XiMat	blood
14	chr14:24808200-24809600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
15	chr14:24808200-24809600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
16	chr14:24808200-24809600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr14:24808400-24809000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr14:24808400-24809000	Active TSS	Brain Anterior Caudate	brain
19	chr14:24808400-24809000	Active TSS	Right Atrium	heart
20	chr14:24808400-24809200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr14:24808400-24809200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr14:24808400-24809200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr14:24808400-24809200	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
24	chr14:24808400-24809200	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
25	chr14:24808400-24809200	Bivalent/Poised TSS	Brain Substantia Nigra	brain
26	chr14:24808400-24809200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
27	chr14:24808400-24809200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
28	chr14:24808400-24809200	Active TSS	Psoas Muscle	Psoas
29	chr14:24808400-24809200	Active TSS	Small Intestine	intestine
30	chr14:24808400-24809400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
31	chr14:24808400-24809400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
32	chr14:24808400-24809400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
33	chr14:24808400-24809400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr14:24808400-24809400	Flanking Active TSS	Primary B cells from peripheral blood	blood
35	chr14:24808400-24809400	Flanking Active TSS	Primary hematopoietic stem cells	blood
36	chr14:24808400-24809400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
37	chr14:24808400-24809400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr14:24808400-24809400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr14:24808400-24809400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
40	chr14:24808400-24809400	Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr14:24808400-24809400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
42	chr14:24808400-24809400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
43	chr14:24808400-24809400	Active TSS	Placenta Amnion	Placenta Amnion
44	chr14:24808400-24809600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
45	chr14:24808400-24809600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
46	chr14:24808400-24809600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr14:24808400-24809600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
48	chr14:24808600-24809000	Flanking Bivalent TSS/Enh	ES-WA7 Cell Line	embryonic stem cell
49	chr14:24808600-24809000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr14:24808600-24809000	Bivalent Enhancer	HMEC	breast

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