Variant report

Variant	rs17249049
Chromosome Location	chr14:67934391-67934392
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:69)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:69 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr14:67934360-67934510	GM12874	blood:	n/a	n/a
2	CTCF	chr14:67934360-67934510	HFF-Myc	foreskin:	n/a	n/a
3	CTCF	chr14:67934340-67934490	NHLF	lung:	n/a	n/a
4	CTCF	chr14:67934380-67934530	HCPEpiC	choroid plexus:	n/a	n/a
5	CTCF	chr14:67934360-67934510	A549	lung:	n/a	n/a
6	CTCF	chr14:67934380-67934530	Hela-S3	cervix:	n/a	n/a
7	RUNX3	chr14:67934327-67934643	GM12878	blood:	n/a	n/a
8	CTCF	chr14:67934380-67934530	GM12873	blood:	n/a	n/a
9	CTCF	chr14:67934294-67934634	GM12878	blood:	n/a	n/a
10	CTCF	chr14:67934256-67934554	GM12878	blood:	n/a	n/a
11	RUNX3	chr14:67934278-67934754	GM12878	blood:	n/a	n/a
12	CTCF	chr14:67934220-67934510	GM06990	blood:	n/a	n/a
13	CTCF	chr14:67934340-67934490	HepG2	liver:	n/a	n/a
14	CTCF	chr14:67934360-67934510	HPAF	blood vessel:	n/a	n/a
15	CTCF	chr14:67934360-67934510	NHEK	skin:	n/a	n/a
16	CTCF	chr14:67934300-67934450	GM06990	blood:	n/a	n/a
17	CTCF	chr14:67934380-67934530	HBMEC	blood vessel:	n/a	n/a
18	CTCF	chr14:67934380-67934530	HVMF	connective:	n/a	n/a
19	CTCF	chr14:67934320-67934470	AG09309	skin:	n/a	n/a
20	CTCF	chr14:67934360-67934510	HCPEpiC	choroid plexus:	n/a	n/a
21	CTCF	chr14:67934380-67934530	HPF	lung:	n/a	n/a
22	CTCF	chr14:67934380-67934530	SAEC	small airway:	n/a	n/a
23	CTCF	chr14:67934380-67934530	GM12868	blood:	n/a	n/a
24	CTCF	chr14:67934380-67934530	HFF-Myc	foreskin:	n/a	n/a
25	CTCF	chr14:67934018-67934794	MCF-7	breast:	n/a	n/a
26	ZNF143	chr14:67934336-67934635	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr14:67934280-67934430	HA-sp	spinal cord:	n/a	n/a
28	CTCF	chr14:67934340-67934490	HUVEC	blood vessel:	n/a	n/a
29	CTCF	chr14:67934102-67934691	A549	lung:	n/a	n/a
30	CTCF	chr14:67934380-67934530	GM12872	blood:	n/a	n/a
31	CTCF	chr14:67934361-67934570	MCF-7	breast:	n/a	n/a
32	CTCF	chr14:67934164-67934731	MCF-7	breast:	n/a	n/a
33	CTCF	chr14:67934320-67934470	BE2_C	brain:	n/a	n/a
34	CTCF	chr14:67934384-67934541	Hela-S3	cervix:	n/a	n/a
35	CTCF	chr14:67934380-67934530	HAc	cerebellar:	n/a	n/a
36	CTCF	chr14:67934360-67934510	SK-N-SH_RA	brain:	n/a	n/a
37	CTCF	chr14:67934300-67934450	WI-38	lung:	n/a	n/a
38	CTCF	chr14:67934380-67934530	GM12874	blood:	n/a	n/a
39	CTCF	chr14:67934380-67934530	GM12865	blood:	n/a	n/a
40	CTCF	chr14:67934382-67934532	MCF-7	breast:	n/a	n/a
41	CTCF	chr14:67934360-67934510	GM12871	blood:	n/a	n/a
42	CTCF	chr14:67934285-67934673	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTCF	chr14:67934380-67934530	AG04449	skin:	n/a	n/a
44	CTCF	chr14:67934340-67934490	GM12873	blood:	n/a	n/a
45	CTCF	chr14:67934360-67934510	HUVEC	blood vessel:	n/a	n/a
46	CTCF	chr14:67934380-67934530	GM12878	blood:	n/a	n/a
47	CTCF	chr14:67934340-67934490	HRE	kidney:	n/a	n/a
48	CTCF	chr14:67934360-67934510	HRPEpiC	eye:	n/a	n/a
49	CTCF	chr14:67934302-67934517	A549	lung:	n/a	n/a
50	CTCF	chr14:67934380-67934530	GM12875	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:67914287..67914992-chr14:67934220..67935041,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PLEK2-2	chr14:67933821-67934635	NONHSAT037445

No data

Variant related genes	Relation type
TMEM229B	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11158668	0.85[ASN][1000 genomes]
rs12589622	1.00[LWK][hapmap]
rs12589836	1.00[LWK][hapmap];1.00[MEX][hapmap];0.80[AMR][1000 genomes]
rs17191694	1.00[LWK][hapmap]
rs17249111	1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.80[AMR][1000 genomes]
rs3742865	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs71421374	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045518	chr14:67529049-67959582	Strong transcription Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv456331	chr14:67732861-68103780	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv564961	chr14:67732861-68103780	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv470651	chr14:67732861-68113293	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv902066	chr14:67873128-68103780	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv1048046	chr14:67932876-67958467	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17249049	SNORA57	trans	lymphoblastoid	seeQTL

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67927800-67935400	Enhancers	Fetal Thymus	thymus
2	chr14:67928200-67935200	Enhancers	Thymus	Thymus
3	chr14:67928600-67934400	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr14:67928800-67946600	Weak transcription	Pancreas	Pancrea
5	chr14:67929600-67942600	Weak transcription	Lung	lung
6	chr14:67929800-67938600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr14:67930400-67935400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr14:67931200-67939600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr14:67931400-67939000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr14:67931800-67938600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr14:67932000-67939600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr14:67932600-67934400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr14:67932800-67937600	Weak transcription	Primary T cells from cord blood	blood
14	chr14:67932800-67939200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr14:67932800-67940000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr14:67933000-67954400	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr14:67933200-67939400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr14:67933800-67934400	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr14:67933800-67934800	Enhancers	Placenta	Placenta
20	chr14:67933800-67935200	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr14:67933800-67935400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr14:67933800-67935400	Enhancers	Fetal Intestine Large	intestine
23	chr14:67933800-67935600	Enhancers	Fetal Intestine Small	intestine
24	chr14:67934000-67934400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr14:67934000-67934600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr14:67934000-67934600	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr14:67934000-67935200	Enhancers	Primary T cells fromperipheralblood	blood
28	chr14:67934000-67935200	Flanking Active TSS	Duodenum Mucosa	Duodenum
29	chr14:67934000-67935400	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr14:67934000-67936400	Weak transcription	Small Intestine	intestine
31	chr14:67934200-67934400	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr14:67934200-67934400	Bivalent Enhancer	HepG2	liver
33	chr14:67934200-67934600	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr14:67934200-67934600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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