Variant report

Variant	rs57499144
Chromosome Location	chr14:105433405-105433406
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:105431065..105432586-chr14:105432606..105434940,2	MCF-7	breast:
2	chr10:27844558..27845058-chr14:105433088..105433712,2	Hela-S3	cervix:
3	chr14:105419320..105427156-chr14:105428137..105437324,13	MCF-7	breast:
4	chr14:105431666..105433852-chr14:105435750..105437431,2	K562	blood:
5	chr14:105281086..105282692-chr14:105433112..105435409,2	MCF-7	breast:
6	chr14:105330777..105332349-chr14:105432656..105435146,2	MCF-7	breast:
7	chr14:105292149..105293877-chr14:105432490..105434872,2	MCF-7	breast:
8	chr14:105432831..105435201-chr14:105444161..105445839,2	K562	blood:
9	chr14:105432736..105434907-chr14:105449081..105450731,2	K562	blood:
10	chr14:105432332..105434331-chr14:105443300..105445839,2	K562	blood:
11	chr14:105397946..105402026-chr14:105432075..105436665,6	MCF-7	breast:
12	chr14:105432444..105435171-chr14:105511281..105513551,2	MCF-7	breast:
13	chr14:105433360..105436744-chr14:105487387..105489462,3	MCF-7	breast:
14	chr14:105433341..105433966-chr6:27805808..27806440,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000166428	Chromatin interaction
ENSG00000233822	Chromatin interaction
ENSG00000184348	Chromatin interaction
ENSG00000099814	Chromatin interaction
ENSG00000185567	Chromatin interaction
ENSG00000170779	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs2819447	1.00[EUR][1000 genomes]
rs55883015	1.00[EUR][1000 genomes]
rs57824859	1.00[EUR][1000 genomes]
rs59748048	1.00[EUR][1000 genomes]
rs60132793	1.00[EUR][1000 genomes]
rs61433149	1.00[EUR][1000 genomes]
rs61759787	1.00[EUR][1000 genomes]
rs74089806	1.00[EUR][1000 genomes]
rs74089807	1.00[EUR][1000 genomes]
rs74089811	1.00[EUR][1000 genomes]
rs74090122	1.00[EUR][1000 genomes]
rs74090125	1.00[EUR][1000 genomes]
rs74090130	1.00[EUR][1000 genomes]
rs74090134	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74090136	1.00[EUR][1000 genomes]
rs74090138	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74090139	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74090141	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74090142	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74090188	1.00[EUR][1000 genomes]
rs74090193	1.00[EUR][1000 genomes]
rs74090196	1.00[EUR][1000 genomes]
rs74092707	1.00[EUR][1000 genomes]
rs74092713	1.00[EUR][1000 genomes]
rs8017360	1.00[EUR][1000 genomes]
rs8021519	1.00[EUR][1000 genomes]
rs8021521	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 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

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105400800-105434000	Weak transcription	Aorta	Aorta
2	chr14:105423400-105433800	Weak transcription	HSMM	muscle
3	chr14:105423600-105433800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr14:105423800-105433800	Weak transcription	NHLF	lung
5	chr14:105432000-105433600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr14:105432000-105433800	Enhancers	HUVEC	blood vessel
7	chr14:105432200-105434200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr14:105432400-105435800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr14:105432600-105433800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
10	chr14:105432600-105434200	Bivalent Enhancer	Stomach Mucosa	stomach
11	chr14:105432600-105435000	Enhancers	Gastric	stomach
12	chr14:105432600-105435800	Enhancers	Pancreas	Pancrea
13	chr14:105432800-105433600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr14:105432800-105434000	Bivalent Enhancer	Brain Hippocampus Middle	brain
15	chr14:105432800-105434000	Flanking Active TSS	Esophagus	oesophagus
16	chr14:105432800-105434000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
17	chr14:105432800-105434000	Flanking Active TSS	Hela-S3	cervix
18	chr14:105432800-105435800	Enhancers	Spleen	Spleen
19	chr14:105433000-105433800	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr14:105433000-105433800	Bivalent Enhancer	Fetal Muscle Leg	muscle
21	chr14:105433000-105433800	Bivalent Enhancer	Fetal Stomach	stomach
22	chr14:105433000-105433800	Enhancers	Placenta Amnion	Placenta Amnion
23	chr14:105433000-105434200	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
24	chr14:105433000-105445400	Flanking Active TSS	Stomach Smooth Muscle	stomach
25	chr14:105433200-105433600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
26	chr14:105433200-105433600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr14:105433200-105433600	Bivalent Enhancer	Colonic Mucosa	Colon
28	chr14:105433200-105433800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr14:105433200-105433800	Bivalent Enhancer	Adipose Nuclei	Adipose
30	chr14:105433200-105433800	Bivalent Enhancer	Duodenum Mucosa	Duodenum
31	chr14:105433200-105433800	Enhancers	Lung	lung
32	chr14:105433200-105433800	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
33	chr14:105433200-105433800	Enhancers	Right Ventricle	heart
34	chr14:105433200-105433800	Enhancers	A549	lung
35	chr14:105433200-105434000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr14:105433200-105434200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr14:105433200-105434200	Bivalent Enhancer	Fetal Intestine Large	intestine
38	chr14:105433200-105434800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr14:105433200-105435800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr14:105433200-105436000	Flanking Active TSS	NHEK	skin
41	chr14:105433400-105433600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
42	chr14:105433400-105433600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
43	chr14:105433400-105433600	Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr14:105433400-105433600	Bivalent Enhancer	Rectal Smooth Muscle	rectum
45	chr14:105433400-105433800	Bivalent Enhancer	Fetal Intestine Small	intestine
46	chr14:105433400-105433800	Enhancers	Fetal Lung	lung
47	chr14:105433400-105434000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
48	chr14:105433400-105434000	Enhancers	Muscle Satellite Cultured Cells	--
49	chr14:105433400-105434000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr14:105433400-105434000	Flanking Active TSS	Colon Smooth Muscle	Colon

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