Variant report

Variant	rs1885042
Chromosome Location	chr14:68087407-68087408
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:68087120-68087477	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr14:68087061-68087525	H1-hESC	embryonic stem cell:	n/a	n/a
3	HA-E2F1	chr14:68086111-68087518	MCF-7	breast:	n/a	chr14:68086571-68086580 chr14:68086529-68086539 chr14:68086506-68086516 chr14:68086463-68086472 chr14:68086573-68086582 chr14:68086465-68086474 chr14:68086542-68086551 chr14:68086551-68086560
4	POLR2A	chr14:68086079-68087744	H1-neurons	neurons:	n/a	n/a
5	ZNF263	chr14:68086233-68087547	HEK293-T-REx	kidney:	n/a	chr14:68087234-68087255 chr14:68087289-68087298
6	RCOR1	chr14:68087232-68087424	HepG2	liver:	n/a	n/a
7	REST	chr14:68086259-68087648	H1-neurons	neurons:	n/a	chr14:68086528-68086538 chr14:68086499-68086512
8	MAX	chr14:68087138-68087437	K562	blood:	n/a	n/a
9	SIN3A	chr14:68086136-68087538	H1-hESC	embryonic stem cell:	n/a	chr14:68087293-68087301
10	RCOR1	chr14:68087144-68087540	K562	blood:	n/a	n/a
11	POLR2A	chr14:68086098-68087778	H1-neurons	neurons:	n/a	n/a
12	TBP	chr14:68086150-68087525	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr14:68085519-68088093	MCF10A-Er-Src	breast:	n/a	n/a
14	TAF1	chr14:68086319-68087970	H1-neurons	neurons:	n/a	n/a
15	MAZ	chr14:68087099-68087492	K562	blood:	n/a	n/a
16	TAF1	chr14:68087078-68087516	H1-neurons	neurons:	n/a	n/a
17	POLR2A	chr14:68087200-68087537	MCF10A-Er-Src	breast:	n/a	n/a
18	MXI1	chr14:68085190-68087653	SK-N-SH	brain:	n/a	chr14:68085596-68085611 chr14:68085594-68085609
19	POLR2A	chr14:68085868-68088060	H1-hESC	embryonic stem cell:	n/a	n/a
20	MAZ	chr14:68085371-68087514	IMR90	lung:	n/a	chr14:68086577-68086586 chr14:68085596-68085605 chr14:68086502-68086512 chr14:68085600-68085609
21	MAX	chr14:68086124-68087471	H1-hESC	embryonic stem cell:	n/a	chr14:68086577-68086586 chr14:68086502-68086512
22	TAF1	chr14:68086031-68087605	H1-hESC	embryonic stem cell:	n/a	n/a
23	YY1	chr14:68086274-68087407	H1-hESC	embryonic stem cell:	n/a	chr14:68086499-68086513 chr14:68086618-68086632 chr14:68086548-68086562 chr14:68086551-68086560
24	REST	chr14:68085375-68088227	H1-neurons	neurons:	n/a	chr14:68086528-68086538 chr14:68086499-68086512

No.	Distal block	Cell Line	Cell type
1	chr14:68085513..68087982-chr14:68140363..68143281,3	MCF-7	breast:
2	chr14:68081591..68084164-chr14:68086995..68089181,2	K562	blood:
3	chr14:68087309..68089150-chr14:68130477..68132954,2	K562	blood:
4	chr14:68083940..68088003-chr14:68160289..68162917,5	K562	blood:
5	chr14:68065533..68067898-chr14:68086654..68089518,2	K562	blood:
6	chr14:68086481..68089265-chr14:68117411..68120883,3	K562	blood:
7	chr14:68085007..68087641-chr14:68161734..68163830,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000201529	TF binding region
ENSG00000100568	Chromatin interaction
ENSG00000072042	Chromatin interaction
ENSG00000201529	Chromatin interaction
ENSG00000258626	Chromatin interaction
ENSG00000100564	Chromatin interaction
ENSG00000259648	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10483801	0.80[CHB][hapmap];0.81[ASN][1000 genomes]
rs11628590	0.93[AFR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11628666	0.91[AFR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12433361	0.95[AFR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13343243	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17249437	0.90[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17836809	0.95[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap]
rs3742878	1.00[CEU][hapmap];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3759757	0.95[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3759759	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4902501	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4902503	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573787	0.97[AFR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6573788	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs66517376	0.92[AFR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67778250	0.94[EUR][1000 genomes]
rs7144243	0.84[CEU][hapmap]
rs7151920	0.95[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7161243	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8012815	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs8013117	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8014035	0.97[AFR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8014048	0.95[AFR][1000 genomes];0.98[EUR][1000 genomes];0.99[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1885042	RDH11	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68085600-68087600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
2	chr14:68085800-68087800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr14:68086000-68087600	Active TSS	H9 Cell Line	embryonic stem cell
4	chr14:68086000-68087600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr14:68086000-68087600	Flanking Active TSS	Adipose Nuclei	Adipose
6	chr14:68086000-68087600	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr14:68086000-68087600	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr14:68086000-68087800	Active TSS	Brain Hippocampus Middle	brain
9	chr14:68086000-68088000	Active TSS	Psoas Muscle	Psoas
10	chr14:68086000-68088000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
11	chr14:68086200-68087600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr14:68086200-68087600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr14:68086200-68087600	Active TSS	Fetal Kidney	kidney
14	chr14:68086200-68087600	Flanking Active TSS	Dnd41	blood
15	chr14:68086400-68087600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
16	chr14:68086400-68087600	Active TSS	Muscle Satellite Cultured Cells	--
17	chr14:68086400-68087600	Active TSS	NHLF	lung
18	chr14:68086400-68088000	Active TSS	Brain Angular Gyrus	brain
19	chr14:68086800-68087600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr14:68086800-68087600	Flanking Active TSS	Duodenum Mucosa	Duodenum
21	chr14:68087000-68087600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
22	chr14:68087000-68087600	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr14:68087000-68087600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
24	chr14:68087000-68087800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr14:68087000-68088000	Flanking Active TSS	NHEK	skin
26	chr14:68087200-68087600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr14:68087200-68087600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr14:68087200-68087600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
29	chr14:68087200-68087600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
30	chr14:68087200-68087600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
31	chr14:68087200-68087600	Flanking Active TSS	Brain Anterior Caudate	brain
32	chr14:68087200-68087600	Flanking Active TSS	Brain Cingulate Gyrus	brain
33	chr14:68087200-68087600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
34	chr14:68087200-68087600	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
35	chr14:68087200-68087600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
36	chr14:68087200-68087600	Bivalent Enhancer	Fetal Thymus	thymus
37	chr14:68087200-68087600	Flanking Active TSS	Right Ventricle	heart
38	chr14:68087200-68087600	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr14:68087200-68087600	Enhancers	Small Intestine	intestine
40	chr14:68087200-68087600	Active TSS	Stomach Smooth Muscle	stomach
41	chr14:68087200-68087600	Bivalent Enhancer	GM12878-XiMat	blood
42	chr14:68087200-68087600	Flanking Active TSS	HMEC	breast
43	chr14:68087200-68087600	Flanking Active TSS	HUVEC	blood vessel
44	chr14:68087200-68087600	Flanking Active TSS	K562	blood
45	chr14:68087200-68087800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr14:68087200-68087800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr14:68087200-68087800	Flanking Active TSS	HepG2	liver
48	chr14:68087200-68088000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr14:68087200-68088000	Flanking Active TSS	Brain Germinal Matrix	brain
50	chr14:68087200-68089200	Weak transcription	HSMMtube	muscle

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