Variant report

Variant	rs3784123
Chromosome Location	chr14:68926878-68926879
allele	A/C
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:34)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:34 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:68604795..68607491-chr14:68924394..68928105,4	MCF-7	breast:
2	chr14:68829901..68834300-chr14:68923345..68927378,4	MCF-7	breast:
3	chr14:68926068..68927730-chr14:69025760..69028340,2	MCF-7	breast:
4	chr14:68926331..68929151-chr14:69254236..69257263,3	MCF-7	breast:
5	chr14:68925315..68927272-chr14:69282656..69284660,2	MCF-7	breast:
6	chr14:68859979..68862090-chr14:68925299..68927584,2	MCF-7	breast:
7	chr14:68916802..68919938-chr14:68924497..68927794,5	MCF-7	breast:
8	chr14:68926263..68927970-chr14:68936578..68938983,2	K562	blood:
9	chr14:68661742..68664432-chr14:68925183..68928909,3	MCF-7	breast:
10	chr14:68870904..68872882-chr14:68924657..68927546,2	MCF-7	breast:
11	chr14:68924906..68927378-chr14:69044527..69046149,2	MCF-7	breast:
12	chr14:68718829..68724499-chr14:68924135..68928480,8	MCF-7	breast:
13	chr14:68863962..68866276-chr14:68924626..68928147,6	MCF-7	breast:
14	chr14:68926283..68928672-chr14:68981647..68983256,2	MCF-7	breast:
15	chr14:68715136..68717167-chr14:68924205..68927016,2	MCF-7	breast:
16	chr14:68849279..68853036-chr14:68925939..68929072,3	MCF-7	breast:
17	chr14:68865212..68868859-chr14:68924955..68927209,3	MCF-7	breast:
18	chr14:68902379..68904838-chr14:68925274..68927509,2	MCF-7	breast:
19	chr14:68924273..68927929-chr14:69034368..69037492,4	MCF-7	breast:
20	chr14:68925860..68927393-chr14:69092878..69095213,2	MCF-7	breast:
21	chr14:68843051..68845983-chr14:68924155..68927430,4	MCF-7	breast:
22	chr14:68644184..68646511-chr14:68924637..68927356,2	MCF-7	breast:
23	chr14:68711454..68713449-chr14:68924641..68927109,2	MCF-7	breast:
24	chr14:68924822..68938526-chr14:69257377..69265713,29	MCF-7	breast:
25	chr14:68704282..68707165-chr14:68925446..68927896,2	MCF-7	breast:
26	chr14:68925693..68928632-chr14:68950359..68952999,2	MCF-7	breast:
27	chr14:68925872..68927524-chr14:69250657..69253256,2	MCF-7	breast:
28	chr14:68771578..68778202-chr14:68921843..68928978,14	MCF-7	breast:
29	chr14:68917247..68930048-chr14:69249444..69264210,56	MCF-7	breast:
30	chr14:68924187..68928322-chr14:68988163..68990816,4	MCF-7	breast:
31	chr14:68407338..68412061-chr14:68925199..68928533,5	MCF-7	breast:
32	chr14:68926500..68929104-chr14:68935803..68938081,2	MCF-7	breast:
33	chr14:68605361..68607383-chr14:68924952..68927307,3	MCF-7	breast:
34	chr14:68925379..68928137-chr14:69035379..69037742,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000182185	Chromatin interaction
ENSG00000185650	Chromatin interaction
ENSG00000259038	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10133813	0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs10135247	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10136055	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10138140	0.82[JPT][hapmap]
rs10139107	0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs10142629	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10146058	0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs10148720	0.84[ASN][1000 genomes]
rs10162434	0.89[CEU][hapmap];0.82[JPT][hapmap]
rs10467820	0.82[JPT][hapmap]
rs10782456	0.82[ASN][1000 genomes]
rs11158743	0.87[CEU][hapmap];0.81[JPT][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12587397	0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs12717531	0.87[CEU][hapmap]
rs12883132	0.84[AMR][1000 genomes]
rs12886429	0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs12886864	0.82[JPT][hapmap]
rs12888301	1.00[CEU][hapmap];0.95[CHB][hapmap];0.88[JPT][hapmap];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1468279	0.82[JPT][hapmap]
rs2074563	0.82[JPT][hapmap]
rs2074565	0.82[JPT][hapmap]
rs2097800	0.82[JPT][hapmap]
rs2107340	0.83[JPT][hapmap]
rs2145424	0.82[EUR][1000 genomes]
rs2753404	0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs2877465	0.89[CEU][hapmap];0.83[JPT][hapmap]
rs3784122	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3784131	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs4899242	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4902590	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4902591	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4902592	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4902595	0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs4902596	0.83[ASN][1000 genomes]
rs5004090	0.83[JPT][hapmap]
rs6573837	0.83[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	nsv869154	chr14:68366754-69041768	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv832822	chr14:68874640-69060272	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68922200-68937600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr14:68924600-68931200	Enhancers	Muscle Satellite Cultured Cells	--
3	chr14:68924800-68927000	Enhancers	Fetal Lung	lung
4	chr14:68924800-68927000	Enhancers	Small Intestine	intestine
5	chr14:68924800-68927400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr14:68924800-68928800	Enhancers	Fetal Muscle Leg	muscle
7	chr14:68924800-68929800	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr14:68924800-68936000	Enhancers	HSMM	muscle
9	chr14:68925000-68935200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr14:68925400-68928000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr14:68925400-68928000	Enhancers	Adipose Nuclei	Adipose
12	chr14:68925600-68927400	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr14:68925600-68927400	Enhancers	Spleen	Spleen
14	chr14:68925600-68927600	Enhancers	Brain Substantia Nigra	brain
15	chr14:68925600-68927600	Enhancers	Pancreas	Pancrea
16	chr14:68925600-68927600	Enhancers	Psoas Muscle	Psoas
17	chr14:68925600-68927600	Enhancers	Right Atrium	heart
18	chr14:68925600-68927800	Enhancers	Brain Hippocampus Middle	brain
19	chr14:68925600-68929400	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr14:68925800-68927400	Enhancers	Aorta	Aorta
21	chr14:68925800-68927800	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr14:68926000-68927000	Weak transcription	Lung	lung
23	chr14:68926000-68927200	Weak transcription	Left Ventricle	heart
24	chr14:68926000-68928000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr14:68926000-68933000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr14:68926000-68935000	Weak transcription	Fetal Thymus	thymus
27	chr14:68926000-68935200	Weak transcription	Gastric	stomach
28	chr14:68926200-68927600	Enhancers	Hela-S3	cervix
29	chr14:68926200-68927800	Enhancers	Primary B cells from peripheral blood	blood
30	chr14:68926200-68928000	Enhancers	HUVEC	blood vessel
31	chr14:68926200-68928200	Enhancers	Stomach Smooth Muscle	stomach
32	chr14:68926200-68931600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr14:68926200-68931600	Weak transcription	Placenta	Placenta
34	chr14:68926200-68931600	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr14:68926200-68933000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr14:68926200-68933200	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr14:68926200-68935000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr14:68926200-68940000	Weak transcription	Ovary	ovary
39	chr14:68926400-68927000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
40	chr14:68926400-68927200	Weak transcription	Brain Anterior Caudate	brain
41	chr14:68926400-68927400	Weak transcription	Brain Cingulate Gyrus	brain
42	chr14:68926400-68928000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr14:68926400-68928600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr14:68926400-68928600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr14:68926400-68928800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr14:68926400-68931000	Weak transcription	NHDF-Ad	bronchial
47	chr14:68926400-68931200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr14:68926400-68931200	Weak transcription	NH-A	brain
49	chr14:68926400-68931200	Weak transcription	NHLF	lung
50	chr14:68926400-68931400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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