Variant report

Variant	rs7153775
Chromosome Location	chr14:71284478-71284479
allele	C/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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:71284173..71285067-chr14:71373827..71374530,3	MCF-7	breast:
2	chr14:71284168..71285101-chr14:71373914..71374761,2	K562	blood:
3	chr14:71284322..71285012-chr14:71422205..71423224,4	MCF-7	breast:
4	chr14:71221751..71222316-chr14:71284453..71284972,2	MCF-7	breast:
5	chr14:71284087..71285106-chr14:71438711..71440219,11	MCF-7	breast:
6	chr14:71278979..71281546-chr14:71282988..71284915,2	MCF-7	breast:
7	chr14:71180851..71181383-chr14:71284090..71284884,2	MCF-7	breast:
8	chr14:71194431..71195182-chr14:71284389..71285014,2	MCF-7	breast:
9	chr14:71284384..71284985-chr17:59857688..59858582,2	MCF-7	breast:
10	chr14:71223792..71224650-chr14:71284153..71284837,2	MCF-7	breast:
11	chr14:71275505..71276425-chr14:71284337..71285007,2	MCF-7	breast:
12	chr1:226032890..226033728-chr14:71284226..71284855,2	MCF-7	breast:
13	chr14:71278240..71280155-chr14:71283242..71284807,2	MCF-7	breast:
14	chr14:71282463..71285169-chr14:71374308..71376107,2	MCF-7	breast:
15	chr14:71180787..71181364-chr14:71284233..71284834,2	MCF-7	breast:
16	chr14:71274346..71277930-chr14:71282688..71286374,5	MCF-7	breast:
17	chr14:71088364..71089507-chr14:71284063..71285157,11	MCF-7	breast:
18	chr14:71283754..71285089-chr14:71421790..71423652,9	MCF-7	breast:
19	chr14:71284164..71285160-chr14:71438670..71439594,2	MCF-7	breast:
20	chr14:71284167..71284899-chr14:71438728..71439703,4	K562	blood:
21	chr14:71284204..71285103-chr14:72219527..72220049,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000100731	Chromatin interaction
ENSG00000006432	Chromatin interaction
ENSG00000259153	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10134929	0.83[CHB][hapmap]
rs10139774	0.83[CHB][hapmap]
rs11158882	0.87[MEX][hapmap]
rs11620710	0.89[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11621269	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs11622867	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs11626707	0.91[CHB][hapmap];0.87[JPT][hapmap]
rs12433469	0.95[CHB][hapmap];0.89[CHD][hapmap];0.86[JPT][hapmap];0.83[TSI][hapmap];0.81[ASN][1000 genomes]
rs12883087	0.84[ASN][1000 genomes]
rs12883244	0.95[CHB][hapmap];0.89[CHD][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs1548585	0.81[ASN][1000 genomes]
rs17108510	0.82[ASN][1000 genomes]
rs2158528	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2332457	0.95[CHB][hapmap];0.84[CHD][hapmap];0.91[JPT][hapmap]
rs35438375	0.84[ASN][1000 genomes]
rs36025596	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4899371	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4902847	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs4902848	0.95[CHB][hapmap];0.89[CHD][hapmap];0.91[JPT][hapmap]
rs4902855	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs6573976	0.86[CHB][hapmap]
rs7140822	0.81[AMR][1000 genomes]
rs7151405	0.95[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs7154907	0.95[CHB][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs7160912	0.95[CHB][hapmap];0.89[CHD][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs72721934	0.84[ASN][1000 genomes]
rs8005459	0.95[CHB][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs8019156	0.82[ASW][hapmap];0.82[CEU][hapmap];0.82[LWK][hapmap];0.84[MEX][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8022269	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8022410	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8022803	0.82[ASN][1000 genomes]
rs886600	0.81[CEU][hapmap];0.95[CHB][hapmap];0.84[CHD][hapmap];0.91[JPT][hapmap];0.87[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039460	chr14:71176898-71371125	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv1041980	chr14:71196358-71767339	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv542125	chr14:71196358-71767339	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv1035416	chr14:71212882-71623271	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv542126	chr14:71212882-71623271	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	nsv1049741	chr14:71233043-71462509	Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv1037839	chr14:71263886-71625114	Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv542127	chr14:71263886-71625114	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
9	nsv1038007	chr14:71269747-71667680	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7153775	DNAL1	cis	cerebellum	SCAN

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71277200-71288000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr14:71277200-71288400	Weak transcription	Pancreas	Pancrea
3	chr14:71277800-71288000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr14:71279400-71286200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr14:71279400-71288000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr14:71280200-71287800	Weak transcription	NHEK	skin
7	chr14:71282800-71288400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr14:71283400-71284600	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr14:71283400-71284800	Enhancers	A549	lung
10	chr14:71283400-71285000	Enhancers	Fetal Intestine Small	intestine
11	chr14:71283800-71284600	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr14:71283800-71284600	Active TSS	Brain Substantia Nigra	brain
13	chr14:71283800-71284800	Enhancers	Brain Hippocampus Middle	brain
14	chr14:71283800-71285000	Enhancers	HepG2	liver
15	chr14:71284000-71284600	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr14:71284000-71284600	Active TSS	Stomach Smooth Muscle	stomach
17	chr14:71284000-71284800	Enhancers	Primary T cells fromperipheralblood	blood
18	chr14:71284000-71284800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr14:71284000-71284800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr14:71284000-71284800	Weak transcription	Fetal Heart	heart
21	chr14:71284000-71285000	Enhancers	GM12878-XiMat	blood
22	chr14:71284200-71284600	Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr14:71284200-71284600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr14:71284200-71284600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr14:71284200-71284600	Active TSS	Brain Anterior Caudate	brain
26	chr14:71284200-71284600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
27	chr14:71284200-71284600	Active TSS	Colon Smooth Muscle	Colon
28	chr14:71284200-71284600	Active TSS	Fetal Brain Female	brain
29	chr14:71284200-71284600	Active TSS	Fetal Kidney	kidney
30	chr14:71284200-71284600	Active TSS	Ovary	ovary
31	chr14:71284200-71284600	Active TSS	Right Atrium	heart
32	chr14:71284200-71284600	Enhancers	Hela-S3	cervix
33	chr14:71284200-71284800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr14:71284200-71284800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr14:71284200-71284800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr14:71284200-71284800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
37	chr14:71284200-71284800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr14:71284200-71284800	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr14:71284200-71284800	Bivalent Enhancer	Fetal Muscle Leg	muscle
40	chr14:71284200-71284800	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr14:71284200-71284800	Enhancers	Stomach Mucosa	stomach
42	chr14:71284200-71284800	Enhancers	Dnd41	blood
43	chr14:71284200-71284800	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr14:71284200-71285000	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr14:71284200-71285000	Enhancers	Primary B cells from peripheral blood	blood
46	chr14:71284200-71285000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr14:71284200-71285000	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr14:71284200-71285000	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr14:71284200-71285000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr14:71284200-71285000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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