Variant report

Variant	rs17096112
Chromosome Location	chr14:72148047-72148048
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr14:72147769-72148206	H1-hESC	embryonic stem cell:	n/a	n/a
2	TCF12	chr14:72147744-72148062	H1-hESC	embryonic stem cell:	n/a	n/a
3	TEAD4	chr14:72147708-72148188	H1-hESC	embryonic stem cell:	n/a	n/a
4	RXRA	chr14:72147793-72148168	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr14:72147564-72148058	H1-hESC	embryonic stem cell:	n/a	n/a
6	GTF2F1	chr14:72148015-72148083	K562	blood:	n/a	n/a
7	RXRA	chr14:72147755-72148193	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr14:72147809-72148085	H1-hESC	embryonic stem cell:	n/a	n/a
9	CREB1	chr14:72147737-72148239	H1-hESC	embryonic stem cell:	n/a	n/a
10	NANOG	chr14:72147762-72148095	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C14orf57-2	chr14:72145495-72149556	ucscGeneNc_uc010arh_1

No data

Variant related genes	Relation type
SIPA1L1	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10147863	0.94[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap]
rs11846689	0.85[AFR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35169957	0.89[EUR][1000 genomes]
rs3784060	0.84[ASN][1000 genomes]
rs4140798	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs61989427	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7150965	0.82[CHB][hapmap]
rs9972151	0.82[EUR][1000 genomes];0.82[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	esv3398985	chr14:71927884-72404676	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	esv32876	chr14:72147798-72148084	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17096112	RAD51L1	cis	cerebellum	SCAN

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72088200-72159600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr14:72109800-72150800	Weak transcription	Colonic Mucosa	Colon
3	chr14:72118600-72191400	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr14:72119200-72152200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr14:72125400-72151000	Weak transcription	Ovary	ovary
6	chr14:72126200-72159800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr14:72128000-72167800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr14:72129400-72153600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr14:72129400-72196800	Weak transcription	Right Ventricle	heart
10	chr14:72131800-72154000	Weak transcription	Fetal Heart	heart
11	chr14:72134000-72153200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr14:72134200-72151000	Weak transcription	NHDF-Ad	bronchial
13	chr14:72134200-72159000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr14:72139400-72153600	Weak transcription	Fetal Kidney	kidney
15	chr14:72139600-72150600	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr14:72139600-72150800	Weak transcription	NHLF	lung
17	chr14:72139600-72151000	Weak transcription	Left Ventricle	heart
18	chr14:72139600-72151000	Weak transcription	Thymus	Thymus
19	chr14:72139600-72153800	Weak transcription	Fetal Lung	lung
20	chr14:72139800-72150600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr14:72139800-72150800	Weak transcription	HSMMtube	muscle
22	chr14:72139800-72155200	Weak transcription	Placenta	Placenta
23	chr14:72140000-72150800	Weak transcription	HepG2	liver
24	chr14:72140000-72151000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr14:72140000-72151000	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr14:72140000-72151800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr14:72140000-72156800	Weak transcription	Fetal Thymus	thymus
28	chr14:72140000-72165800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr14:72140400-72148400	Weak transcription	Rectal Smooth Muscle	rectum
30	chr14:72140400-72152000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr14:72140600-72176000	Weak transcription	Hela-S3	cervix
32	chr14:72142000-72151000	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr14:72142000-72151000	Weak transcription	Aorta	Aorta
34	chr14:72142000-72151000	Weak transcription	Gastric	stomach
35	chr14:72142000-72153400	Weak transcription	Fetal Muscle Leg	muscle
36	chr14:72142000-72191400	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr14:72142200-72150800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr14:72142200-72150800	Weak transcription	Stomach Smooth Muscle	stomach
39	chr14:72142200-72151000	Weak transcription	Adipose Nuclei	Adipose
40	chr14:72142400-72150600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr14:72142400-72150600	Weak transcription	Primary T cells from cord blood	blood
42	chr14:72142400-72150600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr14:72142400-72151600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr14:72142400-72153600	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr14:72142400-72153600	Weak transcription	HSMM	muscle
46	chr14:72142600-72149000	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr14:72142600-72149200	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr14:72142600-72150400	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr14:72142600-72150600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr14:72142600-72150600	Weak transcription	Liver	Liver

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