Variant report

Variant	rs6573787
Chromosome Location	chr14:68089153-68089154
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:68084874..68087347-chr14:68088536..68091014,3	MCF-7	breast:
2	chr14:68081591..68084164-chr14:68086995..68089181,2	K562	blood:
3	chr14:68087492..68090033-chr14:68140902..68143299,2	K562	blood:
4	chr14:68087429..68090959-chr14:68140902..68143927,4	K562	blood:
5	chr14:68087557..68089288-chr14:68096607..68098723,2	K562	blood:
6	chr14:68073077..68076511-chr14:68087971..68090364,3	K562	blood:
7	chr14:68065533..68067898-chr14:68086654..68089518,2	K562	blood:
8	chr14:68086481..68089265-chr14:68117411..68120883,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000100568	Chromatin interaction
ENSG00000259648	Chromatin interaction
ENSG00000258626	Chromatin interaction
ENSG00000100564	Chromatin interaction
ENSG00000081181	Chromatin interaction
ENSG00000201529	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11628590	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11628666	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12433361	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13343243	0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17249437	0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1885042	0.97[AFR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3742878	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3759757	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3759759	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4902501	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902503	0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6573788	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66517376	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67778250	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7151920	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7161243	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8012815	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs8013117	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8014035	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8014048	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	nsv902068	chr14:68083133-68204876	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6573787	RDH11	cis	Nerve Tibial	GTEx
rs6573787	RDH11	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68087200-68089200	Weak transcription	HSMMtube	muscle
2	chr14:68087200-68109600	Weak transcription	Gastric	stomach
3	chr14:68087200-68112400	Weak transcription	Aorta	Aorta
4	chr14:68087400-68089400	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr14:68087400-68089400	Weak transcription	HSMM	muscle
6	chr14:68087600-68089200	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr14:68087600-68089200	Weak transcription	Adipose Nuclei	Adipose
8	chr14:68087600-68089200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr14:68087600-68089200	Weak transcription	NHLF	lung
10	chr14:68087600-68089400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:68087600-68089400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr14:68087600-68089400	Weak transcription	Placenta	Placenta
13	chr14:68087600-68089400	Weak transcription	Small Intestine	intestine
14	chr14:68087600-68089400	Weak transcription	Spleen	Spleen
15	chr14:68087600-68089600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr14:68087600-68089800	Weak transcription	Left Ventricle	heart
17	chr14:68087600-68091600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr14:68087600-68097400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr14:68087800-68089200	Weak transcription	Fetal Heart	heart
20	chr14:68087800-68089200	Weak transcription	Osteobl	bone
21	chr14:68087800-68090800	Enhancers	HepG2	liver
22	chr14:68087800-68112000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr14:68088000-68089200	Weak transcription	NH-A	brain
24	chr14:68088000-68089400	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr14:68088000-68089400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr14:68088000-68091600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr14:68088000-68100000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr14:68088000-68112400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr14:68088000-68112400	Weak transcription	Brain Angular Gyrus	brain
30	chr14:68088000-68112600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr14:68088200-68089200	Weak transcription	Fetal Brain Female	brain
32	chr14:68088200-68097600	Weak transcription	Brain Germinal Matrix	brain
33	chr14:68088600-68089200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr14:68088600-68089200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr14:68088600-68089200	Enhancers	HUVEC	blood vessel
36	chr14:68088600-68089200	Enhancers	NHDF-Ad	bronchial
37	chr14:68088600-68089600	Enhancers	NHEK	skin
38	chr14:68088600-68090000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr14:68088600-68090200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr14:68088800-68089200	Genic enhancers	HUES64 Cell Line	embryonic stem cell
41	chr14:68088800-68089200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr14:68088800-68089200	Active TSS	Psoas Muscle	Psoas
43	chr14:68088800-68089400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr14:68088800-68089800	Enhancers	Dnd41	blood
45	chr14:68088800-68090000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr14:68088800-68090000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr14:68088800-68090200	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr14:68088800-68090200	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr14:68088800-68090800	Enhancers	Primary T cells from cord blood	blood
50	chr14:68088800-68091000	Enhancers	Hela-S3	cervix

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