Variant report

Variant	rs736066
Chromosome Location	chr14:105435649-105435650
allele	A/G
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:105345517..105346193-chr14:105435321..105435898,2	MCF-7	breast:
2	chr14:105282292..105284225-chr14:105434347..105435910,2	MCF-7	breast:
3	chr14:105419320..105427156-chr14:105428137..105437324,13	MCF-7	breast:
4	chr14:105423838..105424580-chr14:105435211..105435775,2	MCF-7	breast:
5	chr14:105433976..105435749-chr14:105440504..105442426,2	K562	blood:
6	chr14:105433710..105436049-chr14:105439877..105441743,2	K562	blood:
7	chr14:105362868..105363611-chr14:105435227..105436201,3	MCF-7	breast:
8	chr14:105434061..105436164-chr14:105749660..105751938,2	MCF-7	breast:
9	chr14:105330034..105333542-chr14:105435222..105437371,5	MCF-7	breast:
10	chr14:105433505..105435724-chr14:105485407..105487302,3	MCF-7	breast:
11	chr14:105330661..105332395-chr14:105435326..105436995,2	MCF-7	breast:
12	chr14:105421158..105428529-chr14:105433571..105439933,9	MCF-7	breast:
13	chr14:105433597..105435902-chr14:105491340..105492954,2	MCF-7	breast:
14	chr14:104571753..104574483-chr14:105435348..105438320,2	MCF-7	breast:
15	chr14:105397946..105402026-chr14:105432075..105436665,6	MCF-7	breast:
16	chr14:105433360..105436744-chr14:105487387..105489462,3	MCF-7	breast:
17	chr14:105259712..105262459-chr14:105433555..105436098,2	MCF-7	breast:
18	chr14:105433937..105458439-chr14:105476653..105492775,70	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000185567	Chromatin interaction
ENSG00000142208	Chromatin interaction
ENSG00000166428	Chromatin interaction
ENSG00000099814	Chromatin interaction
ENSG00000170779	Chromatin interaction
ENSG00000166183	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10133168	0.87[JPT][hapmap]
rs2582496	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2582497	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2819454	0.92[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs733130	0.86[CHB][hapmap];0.80[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053591	chr14:105024558-105475931	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	nsv542224	chr14:105024558-105475931	Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
3	esv1828345	chr14:105100787-105803170	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh 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	165 gene(s)	inside rSNPs	diseases
4	nsv542225	chr14:105133688-105803170	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
5	nsv542227	chr14:105157572-105803170	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription 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	147 gene(s)	inside rSNPs	diseases
6	nsv917106	chr14:105339195-105803170	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription 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	94 gene(s)	inside rSNPs	diseases
7	nsv902419	chr14:105381763-105494262	Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
8	nsv1049253	chr14:105384959-105471855	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	nsv542228	chr14:105390569-105459912	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv456457	chr14:105404384-105555396	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
11	nsv566141	chr14:105404384-105555396	Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
12	nsv1036224	chr14:105404755-105470333	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
13	nsv902420	chr14:105410183-105494262	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
14	nsv902421	chr14:105410183-105574843	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS 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	73 gene(s)	inside rSNPs	diseases
15	nsv1438	chr14:105412728-105457581	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
16	nsv902422	chr14:105420215-105803170	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
17	nsv1052190	chr14:105423761-105722653	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
18	nsv902423	chr14:105430890-105803170	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
19	nsv1042303	chr14:105435649-105633544	Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
20	nsv456458	chr14:105435649-105690092	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS 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	77 gene(s)	inside rSNPs	diseases
21	nsv566150	chr14:105435649-105690092	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs736066	C14orf2	cis	parietal	SCAN
rs736066	AHNAK2	cis	cerebellum	SCAN

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105432400-105435800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:105432600-105435800	Enhancers	Pancreas	Pancrea
3	chr14:105432800-105435800	Enhancers	Spleen	Spleen
4	chr14:105433000-105445400	Flanking Active TSS	Stomach Smooth Muscle	stomach
5	chr14:105433200-105435800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr14:105433200-105436000	Flanking Active TSS	NHEK	skin
7	chr14:105433400-105435800	Bivalent Enhancer	Placenta	Placenta
8	chr14:105433400-105435800	Flanking Active TSS	HMEC	breast
9	chr14:105433400-105436600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr14:105433600-105435800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr14:105433600-105440200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr14:105433800-105436400	Flanking Active TSS	A549	lung
13	chr14:105433800-105437400	Flanking Active TSS	HUVEC	blood vessel
14	chr14:105434000-105437200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr14:105434000-105437400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
16	chr14:105434200-105436000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr14:105434200-105436000	Active TSS	Placenta Amnion	Placenta Amnion
18	chr14:105434200-105437600	Flanking Active TSS	HSMM	muscle
19	chr14:105434200-105438200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr14:105434400-105436800	Enhancers	Lung	lung
21	chr14:105434400-105437600	Flanking Active TSS	Hela-S3	cervix
22	chr14:105434400-105443800	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr14:105434600-105437400	Enhancers	H1 Cell Line	embryonic stem cell
24	chr14:105434600-105437400	Flanking Active TSS	NHLF	lung
25	chr14:105434600-105439800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr14:105434600-105444000	Weak transcription	Aorta	Aorta
27	chr14:105434800-105435800	Enhancers	Ovary	ovary
28	chr14:105434800-105435800	Flanking Active TSS	Rectal Smooth Muscle	rectum
29	chr14:105434800-105435800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
30	chr14:105434800-105436000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr14:105434800-105436400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr14:105434800-105436600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
33	chr14:105434800-105439000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr14:105435000-105435800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr14:105435000-105435800	Enhancers	K562	blood
36	chr14:105435000-105436800	Weak transcription	Gastric	stomach
37	chr14:105435000-105439800	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr14:105435200-105435800	Enhancers	Fetal Intestine Large	intestine
39	chr14:105435200-105436200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr14:105435200-105436400	Enhancers	Fetal Muscle Leg	muscle
41	chr14:105435200-105437000	Bivalent/Poised TSS	Adipose Nuclei	Adipose
42	chr14:105435200-105438000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr14:105435200-105439000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr14:105435200-105439000	Weak transcription	Right Atrium	heart
45	chr14:105435200-105439800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr14:105435200-105440400	Weak transcription	Right Ventricle	heart
47	chr14:105435200-105441200	Enhancers	Fetal Stomach	stomach
48	chr14:105435400-105435800	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
49	chr14:105435400-105435800	Enhancers	HSMMtube	muscle
50	chr14:105435400-105436200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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