Variant report

Variant	rs1951606
Chromosome Location	chr14:81993661-81993662
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:81987859..81989617-chr14:81991789..81993839,2	MCF-7	breast:
2	chr14:81988735..81994099-chr14:81997820..82001721,7	K562	blood:
3	chr14:81986696..81988883-chr14:81993089..81994792,2	K562	blood:

Variant related genes	Relation type
ENSG00000071537	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1951607	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:4 , 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

No data

Chromatin state (count:121 , 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	chr14:81986200-81993800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr14:81986400-81996600	Weak transcription	Psoas Muscle	Psoas
14	chr14:81986400-81997200	Weak transcription	Fetal Heart	heart
15	chr14:81986400-81998800	Weak transcription	Hela-S3	cervix
16	chr14:81986600-81993800	Strong transcription	Primary B cells from peripheral blood	blood
17	chr14:81986600-81994000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr14:81986800-81993800	Strong transcription	Fetal Lung	lung
19	chr14:81987000-81993800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr14:81987000-81993800	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr14:81987000-81998200	Weak transcription	Small Intestine	intestine
22	chr14:81987200-81994200	Strong transcription	Dnd41	blood
23	chr14:81987400-81993800	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr14:81987400-81993800	Strong transcription	Rectal Mucosa Donor 31	rectum
25	chr14:81987400-81994000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr14:81987400-81998200	Weak transcription	Brain Angular Gyrus	brain
27	chr14:81987600-81998800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr14:81987800-81993800	Strong transcription	Adipose Nuclei	Adipose
29	chr14:81987800-81993800	Strong transcription	HSMM	muscle
30	chr14:81988000-81993800	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr14:81988000-81994000	Strong transcription	Primary hematopoietic stem cells	blood
32	chr14:81988000-81994600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr14:81988000-81998400	Weak transcription	Stomach Mucosa	stomach
34	chr14:81988000-81998600	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr14:81988200-81993800	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr14:81988200-81993800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr14:81988200-81995600	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr14:81988400-81993800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr14:81988600-81994000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr14:81988600-81995400	Weak transcription	K562	blood
41	chr14:81988800-81993800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr14:81988800-81993800	Strong transcription	Placenta	Placenta
43	chr14:81988800-81993800	Strong transcription	Stomach Smooth Muscle	stomach
44	chr14:81988800-81993800	Strong transcription	NHDF-Ad	bronchial
45	chr14:81989000-81994000	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr14:81989600-81998600	Weak transcription	Osteobl	bone
47	chr14:81989800-81999200	Weak transcription	Colonic Mucosa	Colon
48	chr14:81990000-81993800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr14:81990000-81993800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr14:81990000-81998600	Weak transcription	NHLF	lung

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