Variant report

Variant	rs3212247
Chromosome Location	chr14:24809795-24809796
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:24809759-24809809	HUVEC	blood vessel:	n/a
2	chr14:24809759-24809809	GM12878	blood:	n/a
3	chr14:24809759-24809809	Hepatocyte	liver:	n/a
4	chr14:24809759-24809809	HEK293	kidney:	embryo
5	chr14:24809759-24809809	GM19239	blood:	n/a
6	chr14:24809759-24809809	SK-N-SH_RA	brain:	n/a
7	chr14:24809759-24809809	HepG2	liver:	n/a
8	chr14:24809759-24809809	SAEC	small airway:	n/a
9	chr14:24809759-24809809	BE2_C	brain:	n/a
10	chr14:24809759-24809809	NT2-D1	testis:	n/a
11	chr14:24809759-24809809	U87	brain:	n/a
12	chr14:24809759-24809809	SK-N-SH	brain:	n/a
13	chr14:24809759-24809809	MCF-7	breast:	n/a
14	chr14:24809759-24809809	BJ	skin:	n/a
15	chr14:24809759-24809809	HCPEpiC	choroid plexus:	n/a
16	chr14:24809759-24809809	ProgFib	skin:	n/a
17	chr14:24809759-24809809	K562	blood:	n/a
18	chr14:24809759-24809809	PrEC	prostate:	n/a
19	chr14:24809759-24809809	NHBE	bronchial:	n/a
20	chr14:24809759-24809809	AG04449	skin:	fetal
21	chr14:24809759-24809809	HCT-116	colon:	n/a
22	chr14:24809759-24809809	SK-N-MC	brain:	n/a
23	chr14:24809759-24809809	HAEpiC	amniotic membrane:	n/a
24	chr14:24809759-24809809	SKMC	muscle:	n/a
25	chr14:24809759-24809809	A549	lung:	n/a
26	chr14:24809759-24809809	AoSMC	blood vessel:	n/a
27	chr14:24809759-24809809	PFSK-1	brain:	n/a
28	chr14:24809759-24809809	CMK	blood:	n/a
29	chr14:24809759-24809809	HCM	heart:	n/a
30	chr14:24809759-24809809	HRE	kidney:	n/a
31	chr14:24809759-24809809	GM12892	blood:	n/a
32	chr14:24809759-24809809	Hela-S3	cervix:	n/a
33	chr14:24809759-24809809	GM06990	blood:	n/a
34	chr14:24809759-24809809	Jurkat	blood:	n/a
35	chr14:24809759-24809809	NB4	blood:	n/a
36	chr14:24809759-24809809	AG04450	lung:	fetal
37	chr14:24809759-24809809	LNCaP	prostate:	n/a
38	chr14:24809759-24809809	H1-hESC	embryonic stem cell:	embryo
39	chr14:24809759-24809809	HRCEpiC	kidney:	n/a
40	chr14:24809759-24809809	HNPCEpiC	eye:	n/a
41	chr14:24809759-24809809	HL-60	blood:	n/a
42	chr14:24809759-24809809	HCF	heart:	n/a
43	chr14:24809759-24809809	AG10803	skin:	n/a
44	chr14:24809759-24809809	ECC-1	luminal epithelium:	n/a
45	chr14:24809759-24809809	HMEC	breast:	n/a
46	chr14:24809759-24809809	GM12891	blood:	n/a
47	chr14:24809759-24809809	NHDF-neo	bronchial:	n/a
48	chr14:24809759-24809809	AG09309	skin:	n/a
49	chr14:24809759-24809809	RPTEC	kidney:	n/a
50	chr14:24809759-24809809	Caco-2	colon:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr14:24809738..24812373-chr14:24821553..24823093,2	MCF-7	breast:
2	chr14:24768283..24771076-chr14:24807728..24810560,2	MCF-7	breast:
3	chr14:24803661..24805578-chr14:24807953..24810050,2	K562	blood:
4	chr14:24789439..24822082-chr14:24898039..24913135,99	MCF-7	breast:
5	chr14:24781460..24810019-chr14:24892340..24914262,110	MCF-7	breast:
6	chr14:24809608..24813425-chr14:24826773..24829477,3	MCF-7	breast:

No data

Variant related genes	Relation type
RIPK3	CpG island
ENSG00000258973	CpG island
ENSG00000100441	Chromatin interaction
ENSG00000196943	Chromatin interaction
ENSG00000129467	Chromatin interaction
ENSG00000157379	Chromatin interaction
ENSG00000139899	Chromatin interaction
ENSG00000100445	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10139438	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs11844732	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28531696	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28769707	0.88[ASN][1000 genomes]
rs3181246	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3181252	0.95[ASN][1000 genomes]
rs3181257	0.95[ASN][1000 genomes]
rs3212244	0.82[TSI][hapmap]
rs3212246	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3212249	0.91[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.80[MKK][hapmap];0.91[TSI][hapmap];0.94[YRI][hapmap];0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3212250	0.91[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3212251	0.91[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3212253	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3212256	0.97[ASN][1000 genomes]
rs3759625	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[ASN][1000 genomes]
rs3759630	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs3759633	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3759634	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7146673	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7146814	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8009739	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8010276	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8010550	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8014581	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs8014599	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.82[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][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
rs3212247	DHDH	trans	brain	seeQTL
rs3212247	RIPK3	cis	Heart Left Ventricle	GTEx

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24808000-24809800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr14:24809200-24809800	Enhancers	Stomach Mucosa	stomach
3	chr14:24809400-24809800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr14:24809400-24809800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
5	chr14:24809400-24809800	Enhancers	Fetal Intestine Large	intestine
6	chr14:24809400-24809800	Enhancers	Fetal Intestine Small	intestine
7	chr14:24809400-24810000	Enhancers	Primary B cells from peripheral blood	blood
8	chr14:24809400-24813000	Weak transcription	Liver	Liver
9	chr14:24809400-24816200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr14:24809600-24809800	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr14:24809600-24809800	Enhancers	Primary B cells from cord blood	blood
12	chr14:24809600-24809800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr14:24809600-24809800	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr14:24809600-24809800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr14:24809600-24809800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr14:24809600-24809800	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr14:24809600-24809800	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr14:24809600-24809800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr14:24809600-24809800	Enhancers	Duodenum Mucosa	Duodenum
20	chr14:24809600-24809800	Enhancers	Rectal Mucosa Donor 29	rectum
21	chr14:24809600-24809800	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr14:24809600-24809800	Enhancers	Small Intestine	intestine
23	chr14:24809600-24810600	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr14:24809600-24812400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr14:24809600-24821000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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