Variant report

Variant	rs1951607
Chromosome Location	chr14:81996878-81996879
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	chr14:81685821..81688367-chr14:81994101..81997507,5	K562	blood:
2	chr14:81995745..81998818-chr14:81999880..82001620,3	K562	blood:

Variant related genes	Relation type
ENSG00000165417	Chromatin interaction
ENSG00000071537	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1951606	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1951608	1.00[AMR][1000 genomes]
rs1957540	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59443544	1.00[AMR][1000 genomes]
rs59609515	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59619942	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60125402	1.00[AMR][1000 genomes]
rs60508956	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60853415	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047694	chr14:81831147-82534026	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers 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	18 gene(s)	inside rSNPs	diseases
2	nsv542145	chr14:81831147-82534026	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats 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	18 gene(s)	inside rSNPs	diseases
3	nsv902120	chr14:81953242-82067555	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv565299	chr14:81983027-82586324	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	esv1803387	chr14:81995306-82009830	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	esv1803430	chr14:81995306-82009830	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81967600-81999600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:81973800-81999400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:81973800-81999400	Weak transcription	Esophagus	oesophagus
4	chr14:81974800-81998200	Weak transcription	Fetal Brain Male	brain
5	chr14:81981200-81999400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr14:81983200-81999400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr14:81983800-81999400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr14:81984000-81998800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr14:81984200-81999200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr14:81984400-81999400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr14:81986000-81998600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr14:81986400-81997200	Weak transcription	Fetal Heart	heart
13	chr14:81986400-81998800	Weak transcription	Hela-S3	cervix
14	chr14:81987000-81998200	Weak transcription	Small Intestine	intestine
15	chr14:81987400-81998200	Weak transcription	Brain Angular Gyrus	brain
16	chr14:81987600-81998800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr14:81988000-81998400	Weak transcription	Stomach Mucosa	stomach
18	chr14:81988000-81998600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr14:81989600-81998600	Weak transcription	Osteobl	bone
20	chr14:81989800-81999200	Weak transcription	Colonic Mucosa	Colon
21	chr14:81990000-81998600	Weak transcription	NHLF	lung
22	chr14:81990200-81998000	Weak transcription	Gastric	stomach
23	chr14:81990200-81998000	Weak transcription	Spleen	Spleen
24	chr14:81990200-81998600	Weak transcription	HMEC	breast
25	chr14:81990200-81999200	Weak transcription	Aorta	Aorta
26	chr14:81990800-81997200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr14:81990800-81999400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr14:81991200-81998200	Weak transcription	Thymus	Thymus
29	chr14:81991200-81998600	Weak transcription	Fetal Stomach	stomach
30	chr14:81991200-81998800	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr14:81991200-81999400	Weak transcription	Lung	lung
32	chr14:81991400-81997800	Weak transcription	Right Ventricle	heart
33	chr14:81991400-81999000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr14:81991600-81997000	Weak transcription	Fetal Brain Female	brain
35	chr14:81991600-81997800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr14:81991600-81997800	Weak transcription	Ovary	ovary
37	chr14:81991600-81998200	Weak transcription	Brain Germinal Matrix	brain
38	chr14:81991600-81998400	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr14:81991600-81998400	Weak transcription	Fetal Kidney	kidney
40	chr14:81991600-81998600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr14:81991600-81999400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr14:81991800-81997600	Weak transcription	Fetal Intestine Small	intestine
43	chr14:81991800-81999200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr14:81992200-81998400	Weak transcription	Brain Substantia Nigra	brain
45	chr14:81992400-81998600	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr14:81993000-81999200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr14:81993200-81998600	Weak transcription	A549	lung
48	chr14:81993200-81998800	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr14:81993200-81999400	Weak transcription	Fetal Thymus	thymus
50	chr14:81993400-81998000	Weak transcription	Rectal Smooth Muscle	rectum

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