Variant report

Variant	rs74046054
Chromosome Location	chr14:34902584-34902585
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:34898373..34900542-chr14:34902393..34904434,2	K562	blood:
2	chr14:34902502..34904876-chr14:34929052..34932509,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000129521	Chromatin interaction
ENSG00000165389	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10132233	0.95[ASN][1000 genomes]
rs10144582	0.95[ASN][1000 genomes]
rs12432137	0.99[ASN][1000 genomes]
rs12434081	0.84[ASN][1000 genomes]
rs2002517	0.92[ASN][1000 genomes]
rs2383633	1.00[ASN][1000 genomes]
rs2383634	0.92[ASN][1000 genomes]
rs28521575	0.91[ASN][1000 genomes]
rs28635949	0.88[ASN][1000 genomes]
rs4981241	0.98[ASN][1000 genomes]
rs4982178	0.99[ASN][1000 genomes]
rs4982179	0.98[ASN][1000 genomes]
rs4982180	0.92[ASN][1000 genomes]
rs56241228	0.94[ASN][1000 genomes]
rs56728642	1.00[ASN][1000 genomes]
rs57186368	0.87[ASN][1000 genomes]
rs58663784	0.91[ASN][1000 genomes]
rs7152281	0.86[ASN][1000 genomes]
rs7154588	0.94[ASN][1000 genomes]
rs7156841	0.91[ASN][1000 genomes]
rs7160736	0.91[ASN][1000 genomes]
rs74046052	0.95[ASN][1000 genomes]
rs74046057	0.84[ASN][1000 genomes]
rs9783638	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040980	chr14:34345018-35255592	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv1051104	chr14:34592378-35007083	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv949738	chr14:34616331-34990688	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv564192	chr14:34725233-34996507	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv564193	chr14:34728127-35000188	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv528989	chr14:34744426-34998705	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv1054949	chr14:34834260-34992049	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv542025	chr14:34834260-34992049	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
9	nsv1050218	chr14:34851521-34969433	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
10	nsv1048369	chr14:34886956-34974774	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
11	nsv901600	chr14:34895977-35010041	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:34890800-34905800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:34892800-34905400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr14:34894200-34914000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr14:34894600-34913400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr14:34895200-34906400	Weak transcription	Hela-S3	cervix
6	chr14:34895800-34915400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr14:34896400-34922400	Weak transcription	Left Ventricle	heart
8	chr14:34896600-34905400	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr14:34896600-34906200	Weak transcription	Psoas Muscle	Psoas
10	chr14:34896800-34906200	Weak transcription	Pancreas	Pancrea
11	chr14:34897000-34905600	Weak transcription	Duodenum Mucosa	Duodenum
12	chr14:34897000-34906200	Weak transcription	Liver	Liver
13	chr14:34897000-34906200	Weak transcription	Gastric	stomach
14	chr14:34897800-34905400	Weak transcription	HepG2	liver
15	chr14:34898400-34906400	Weak transcription	Ovary	ovary
16	chr14:34898800-34905800	Weak transcription	NH-A	brain
17	chr14:34899200-34916600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr14:34899600-34905400	Weak transcription	HUVEC	blood vessel
19	chr14:34899800-34905000	Weak transcription	Fetal Intestine Large	intestine
20	chr14:34900000-34903400	Weak transcription	Aorta	Aorta
21	chr14:34900000-34913600	Weak transcription	Fetal Stomach	stomach
22	chr14:34900400-34913000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr14:34900600-34905600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr14:34900600-34913000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr14:34900800-34905400	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr14:34900800-34905800	Weak transcription	HSMM	muscle
27	chr14:34900800-34919000	Weak transcription	Primary hematopoietic stem cells	blood
28	chr14:34901000-34905400	Weak transcription	Brain Hippocampus Middle	brain
29	chr14:34901200-34903000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr14:34901400-34907800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr14:34901600-34904000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr14:34901600-34904800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr14:34901600-34905400	Weak transcription	A549	lung
34	chr14:34901600-34905400	Weak transcription	GM12878-XiMat	blood
35	chr14:34901600-34907800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr14:34901600-34911200	Weak transcription	Lung	lung
37	chr14:34901600-34913800	Weak transcription	NHEK	skin
38	chr14:34901800-34905400	Weak transcription	Fetal Intestine Small	intestine
39	chr14:34901800-34915800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr14:34901800-34916600	Weak transcription	Fetal Heart	heart
41	chr14:34901800-34929400	Weak transcription	K562	blood
42	chr14:34902000-34905000	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr14:34902000-34905400	Weak transcription	Primary B cells from peripheral blood	blood
44	chr14:34902000-34905400	Weak transcription	Osteobl	bone
45	chr14:34902400-34902600	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr14:34902400-34902600	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr14:34902400-34903800	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr14:34902400-34905800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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