Variant report

Variant	rs748358
Chromosome Location	chr14:105404593-105404594
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:105402668..105405170-chr14:105443237..105446024,2	K562	blood:
2	chr14:105292002..105293559-chr14:105403118..105405949,2	MCF-7	breast:
3	chr14:105402513..105405385-chr14:105405558..105407496,3	K562	blood:
4	chr14:105398451..105401348-chr14:105403899..105406455,2	K562	blood:
5	chr14:105404478..105406291-chr14:105429556..105431911,2	K562	blood:
6	chr14:105402552..105405090-chr14:105425652..105427842,2	K562	blood:

Variant related genes	Relation type
ENSG00000166428	Chromatin interaction
ENSG00000185567	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1020178	1.00[AMR][1000 genomes]
rs1020179	1.00[AMR][1000 genomes]
rs2582527	1.00[AMR][1000 genomes]
rs2582528	1.00[AMR][1000 genomes]
rs2819417	0.89[AFR][1000 genomes]
rs2819423	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2819431	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2841270	1.00[AMR][1000 genomes]
rs2841273	1.00[AMR][1000 genomes]
rs894037	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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	nsv456456	chr14:105285159-105412541	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	nsv566099	chr14:105285159-105412541	Bivalent Enhancer Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers 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	38 gene(s)	inside rSNPs	diseases
8	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
9	nsv566139	chr14:105347296-105417147	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
10	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
11	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
12	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
13	esv11876	chr14:105400671-105419692	Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
14	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
15	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105399600-105406800	Weak transcription	Spleen	Spleen
2	chr14:105399800-105405800	Weak transcription	Brain Substantia Nigra	brain
3	chr14:105399800-105405800	Weak transcription	HMEC	breast
4	chr14:105399800-105410800	Weak transcription	Primary B cells from cord blood	blood
5	chr14:105399800-105413800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr14:105399800-105419800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr14:105399800-105424000	Weak transcription	Hela-S3	cervix
8	chr14:105399800-105425000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr14:105400800-105416000	Weak transcription	Brain Angular Gyrus	brain
10	chr14:105400800-105424600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr14:105400800-105434000	Weak transcription	Aorta	Aorta
12	chr14:105401000-105405400	Weak transcription	Esophagus	oesophagus
13	chr14:105401000-105406000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr14:105401000-105423000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr14:105401200-105404800	Weak transcription	Colon Smooth Muscle	Colon
16	chr14:105401200-105405200	Weak transcription	NHEK	skin
17	chr14:105401400-105405600	Weak transcription	NHDF-Ad	bronchial
18	chr14:105401600-105405400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr14:105401800-105406400	Weak transcription	HSMM	muscle
20	chr14:105402000-105405600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr14:105402200-105406400	Weak transcription	Pancreas	Pancrea
22	chr14:105403000-105405000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr14:105403400-105407000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr14:105403400-105407800	Weak transcription	Gastric	stomach
25	chr14:105403400-105416800	Strong transcription	Stomach Smooth Muscle	stomach
26	chr14:105403600-105408800	Strong transcription	Muscle Satellite Cultured Cells	--
27	chr14:105403800-105405400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr14:105404000-105421800	Weak transcription	HUVEC	blood vessel
29	chr14:105404000-105429600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr14:105404200-105410000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr14:105404200-105423400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr14:105404400-105404600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr14:105404400-105408400	Strong transcription	A549	lung
34	chr14:105404400-105412800	Strong transcription	Fetal Stomach	stomach

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