Variant report

Variant	rs73592247
Chromosome Location	chr14:22336340-22336341
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
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	FOS	chr14:22335567-22337254	HUVEC	blood vessel:	n/a	chr14:22336641-22336651 chr14:22335960-22335968 chr14:22336641-22336651 chr14:22335958-22335969 chr14:22336642-22336649 chr14:22336641-22336651 chr14:22336642-22336650 chr14:22335926-22335937 chr14:22335959-22335969 chr14:22335923-22335934 chr14:22336642-22336650
2	CTCF	chr14:22336320-22336470	HPAF	blood vessel:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:22336334-22336384	Jurkat	blood:	n/a
2	chr14:22336334-22336384	GM06990	blood:	n/a
3	chr14:22336334-22336384	ProgFib	skin:	n/a
4	chr14:22336334-22336384	IMR90	lung:	fetal
5	chr14:22336334-22336384	CMK	blood:	n/a
6	chr14:22336334-22336384	AG09319	gingival:	n/a
7	chr14:22336334-22336384	HMEC	breast:	n/a
8	chr14:22336334-22336384	NT2-D1	testis:	n/a
9	chr14:22336334-22336384	MCF-7	breast:	n/a
10	chr14:22336334-22336384	ECC-1	luminal epithelium:	n/a
11	chr14:22336334-22336384	PANC-1	pancreas:	n/a
12	chr14:22336334-22336384	AG04449	skin:	fetal
13	chr14:22336334-22336384	HCPEpiC	choroid plexus:	n/a
14	chr14:22336334-22336384	SK-N-MC	brain:	n/a
15	chr14:22336334-22336384	AG09309	skin:	n/a
16	chr14:22336334-22336384	AG04450	lung:	fetal
17	chr14:22336334-22336384	ovcar-3	ovarian:	n/a
18	chr14:22336334-22336384	HAEpiC	amniotic membrane:	n/a
19	chr14:22336334-22336384	NHDF-neo	bronchial:	n/a
20	chr14:22336334-22336384	BE2_C	brain:	n/a
21	chr14:22336334-22336384	HRPEpiC	eye:	n/a
22	chr14:22336334-22336384	HRCEpiC	kidney:	n/a
23	chr14:22336334-22336384	AoSMC	blood vessel:	n/a
24	chr14:22336334-22336384	GM12891	blood:	n/a
25	chr14:22336334-22336384	HCM	heart:	n/a
26	chr14:22336334-22336384	AG10803	skin:	n/a
27	chr14:22336334-22336384	PFSK-1	brain:	n/a
28	chr14:22336334-22336384	GM19239	blood:	n/a
29	chr14:22336334-22336384	Hela-S3	cervix:	n/a
30	chr14:22336334-22336384	U87	brain:	n/a
31	chr14:22336334-22336384	NHBE	bronchial:	n/a
32	chr14:22336334-22336384	H1-hESC	embryonic stem cell:	embryo
33	chr14:22336334-22336384	HPAEpiC	pulmonary alveolar:	n/a
34	chr14:22336334-22336384	SAEC	small airway:	n/a
35	chr14:22336334-22336384	LNCaP	prostate:	n/a
36	chr14:22336334-22336384	HRE	kidney:	n/a
37	chr14:22336334-22336384	NH-A	brain:	n/a
38	chr14:22336334-22336384	SK-N-SH	brain:	n/a
39	chr14:22336334-22336384	RPTEC	kidney:	n/a
40	chr14:22336334-22336384	MCF10A-Er-Src	breast:	n/a
41	chr14:22336334-22336384	HIPEpiC	eye:	n/a
42	chr14:22336334-22336384	SKMC	muscle:	n/a
43	chr14:22336334-22336384	T-47D	breast:	n/a
44	chr14:22336334-22336384	HUVEC	blood vessel:	n/a
45	chr14:22336334-22336384	PrEC	prostate:	n/a
46	chr14:22336334-22336384	GM12892	blood:	n/a
47	chr14:22336334-22336384	HepG2	liver:	n/a
48	chr14:22336334-22336384	NB4	blood:	n/a
49	chr14:22336334-22336384	HL-60	blood:	n/a
50	chr14:22336334-22336384	GM12878	blood:	n/a

No data

Variant related genes	Relation type
TRAV13-1	TF binding region
TRAV13-1	CpG island

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10146749	1.00[EUR][1000 genomes]
rs11847921	1.00[EUR][1000 genomes]
rs11849452	1.00[EUR][1000 genomes]
rs11850587	1.00[EUR][1000 genomes]
rs17111462	1.00[EUR][1000 genomes]
rs35575953	1.00[EUR][1000 genomes]
rs55673274	1.00[EUR][1000 genomes]
rs57469310	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57501237	1.00[EUR][1000 genomes]
rs57854167	1.00[EUR][1000 genomes]
rs58380718	1.00[EUR][1000 genomes]
rs58424936	1.00[EUR][1000 genomes]
rs59437325	1.00[EUR][1000 genomes]
rs60385984	1.00[EUR][1000 genomes]
rs61582674	1.00[EUR][1000 genomes]
rs7142125	1.00[EUR][1000 genomes]
rs73582203	1.00[EUR][1000 genomes]
rs73583939	1.00[EUR][1000 genomes]
rs73583947	1.00[EUR][1000 genomes]
rs73583980	1.00[EUR][1000 genomes]
rs73587513	1.00[EUR][1000 genomes]
rs73592231	1.00[EUR][1000 genomes]
rs74035449	1.00[EUR][1000 genomes]
rs74035452	1.00[EUR][1000 genomes]
rs8021075	1.00[EUR][1000 genomes]
rs932229	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042309	chr14:22042511-22866936	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	90 gene(s)	inside rSNPs	diseases
2	nsv563852	chr14:22205447-22344160	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1037902	chr14:22229021-22354103	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv832741	chr14:22235781-22413637	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	esv3387723	chr14:22255284-22397765	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv430885	chr14:22267491-22975700	Enhancers Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	124 gene(s)	inside rSNPs	diseases
7	nsv524527	chr14:22288841-22387318	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv430886	chr14:22290777-22975700	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	123 gene(s)	inside rSNPs	diseases
9	nsv1045059	chr14:22299148-22911214	Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	84 gene(s)	inside rSNPs	diseases
10	nsv916328	chr14:22299151-22793429	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
11	nsv430887	chr14:22299981-23069853	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	173 gene(s)	inside rSNPs	diseases
12	nsv832742	chr14:22307760-22501748	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
13	esv3376001	chr14:22309888-22356663	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	esv3510505	chr14:22315317-22363164	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
15	esv3510506	chr14:22315317-22363164	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
16	nsv533184	chr14:22322590-22964922	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
17	esv3374852	chr14:22323324-22376470	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
18	esv3406578	chr14:22323357-22384327	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
19	esv3487255	chr14:22323369-22376353	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
20	esv9521	chr14:22323390-22376500	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
21	esv3487256	chr14:22323425-22376244	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
22	nsv430888	chr14:22328266-22974256	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	118 gene(s)	inside rSNPs	diseases
23	nsv826884	chr14:22329745-23005270	Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	147 gene(s)	inside rSNPs	diseases
24	nsv826885	chr14:22329745-23005311	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	147 gene(s)	inside rSNPs	diseases
25	nsv826887	chr14:22330625-22998976	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	142 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:22321400-22340800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr14:22323200-22337000	Weak transcription	Fetal Thymus	thymus
3	chr14:22331200-22336400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr14:22332600-22336800	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr14:22332600-22336800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr14:22332600-22336800	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr14:22332800-22337000	Weak transcription	Primary T cells from cord blood	blood
8	chr14:22334000-22336800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr14:22334000-22336800	Enhancers	HMEC	breast
10	chr14:22334000-22337200	Enhancers	HUVEC	blood vessel
11	chr14:22334200-22337000	Weak transcription	Thymus	Thymus
12	chr14:22334600-22336600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr14:22334600-22336800	Enhancers	NHEK	skin
14	chr14:22334800-22339400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr14:22335600-22336600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr14:22336000-22336400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr14:22336000-22337000	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr14:22336200-22336600	Enhancers	NH-A	brain
19	chr14:22336200-22337200	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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