Variant report

Variant	rs742869
Chromosome Location	chr14:68113293-68113294
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:68111577..68114735-chr14:68140017..68142397,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100568	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1117516	0.91[ASW][hapmap];1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];0.83[YRI][hapmap];0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11622069	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11629160	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11849521	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17782603	0.83[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];0.83[YRI][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2057119	0.87[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2295111	0.91[ASW][hapmap];0.82[MEX][hapmap]
rs2295643	0.88[JPT][hapmap]
rs2320027	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3759763	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];0.83[YRI][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3784087	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4902507	0.87[ASN][1000 genomes]
rs55695655	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55711201	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55790812	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55919049	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56038131	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56385621	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61990129	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61991864	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61991865	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61991866	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7149133	0.95[CHD][hapmap];0.89[JPT][hapmap]
rs7156352	0.88[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
rs742869	RDH11	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68088800-68123000	Weak transcription	Fetal Brain Male	brain
2	chr14:68089600-68116200	Weak transcription	Fetal Kidney	kidney
3	chr14:68089800-68113400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr14:68090000-68114800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr14:68090000-68115800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr14:68091800-68116600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr14:68100600-68114600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr14:68101600-68114200	Weak transcription	Primary B cells from peripheral blood	blood
9	chr14:68106000-68114800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr14:68107600-68115400	Weak transcription	NHLF	lung
11	chr14:68108600-68115600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr14:68109000-68130000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr14:68109000-68133200	Weak transcription	Stomach Mucosa	stomach
14	chr14:68109200-68115800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr14:68109400-68116800	Strong transcription	NHEK	skin
16	chr14:68109800-68115200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr14:68109800-68124400	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr14:68109800-68126000	Strong transcription	Fetal Brain Female	brain
19	chr14:68110400-68115600	Weak transcription	Gastric	stomach
20	chr14:68110600-68113400	Enhancers	Fetal Heart	heart
21	chr14:68110800-68115800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr14:68110800-68115800	Weak transcription	Small Intestine	intestine
23	chr14:68110800-68116600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr14:68111000-68113400	Weak transcription	Fetal Thymus	thymus
25	chr14:68111000-68114800	Weak transcription	HMEC	breast
26	chr14:68111000-68115000	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr14:68111000-68115600	Weak transcription	Fetal Stomach	stomach
28	chr14:68111000-68126800	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr14:68111000-68135200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr14:68111200-68114400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr14:68111200-68115600	Weak transcription	Colonic Mucosa	Colon
32	chr14:68111400-68114800	Weak transcription	Hela-S3	cervix
33	chr14:68111400-68115200	Weak transcription	Right Ventricle	heart
34	chr14:68111400-68119000	Strong transcription	K562	blood
35	chr14:68111600-68115800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr14:68111600-68116200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr14:68111800-68115400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr14:68111800-68117000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr14:68111800-68126000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr14:68112000-68113400	Strong transcription	GM12878-XiMat	blood
41	chr14:68112000-68113600	Enhancers	Fetal Intestine Small	intestine
42	chr14:68112000-68114400	Weak transcription	Colon Smooth Muscle	Colon
43	chr14:68112000-68117000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr14:68112000-68124200	Strong transcription	H1 Cell Line	embryonic stem cell
45	chr14:68112000-68124400	Strong transcription	Brain Germinal Matrix	brain
46	chr14:68112000-68129400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr14:68112000-68129800	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr14:68112200-68113400	Strong transcription	Lung	lung
49	chr14:68112200-68113600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr14:68112200-68113600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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