Variant report

Variant	rs1951278
Chromosome Location	chr14:35853561-35853562
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:35834445..35839728-chr14:35850287..35856081,6	K562	blood:
2	chr14:35590854..35592672-chr14:35853334..35855525,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000092020	Chromatin interaction
ENSG00000258790	Chromatin interaction
ENSG00000100890	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12433011	0.90[ASN][1000 genomes]
rs12883213	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12883343	0.90[ASN][1000 genomes]
rs1951275	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1951276	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1951277	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34150541	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34416212	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4460979	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58048675	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7146555	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7146577	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7152376	0.90[ASN][1000 genomes]
rs8010335	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052392	chr14:35563220-35893309	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
2	nsv542036	chr14:35563220-35893309	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35851200-35855000	Enhancers	Placenta	Placenta
2	chr14:35852200-35855400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr14:35852400-35854400	Enhancers	Rectal Smooth Muscle	rectum
4	chr14:35852400-35854600	Enhancers	Brain Inferior Temporal Lobe	brain
5	chr14:35852400-35855200	Enhancers	Psoas Muscle	Psoas
6	chr14:35852400-35855600	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr14:35852400-35855800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr14:35852400-35856200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr14:35852400-35856200	Enhancers	Fetal Muscle Leg	muscle
10	chr14:35852600-35853600	Enhancers	A549	lung
11	chr14:35852600-35854600	Enhancers	Hela-S3	cervix
12	chr14:35852600-35855400	Enhancers	Fetal Intestine Small	intestine
13	chr14:35852600-35855400	Flanking Active TSS	Stomach Smooth Muscle	stomach
14	chr14:35852600-35856400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr14:35852800-35854000	Enhancers	HSMM	muscle
16	chr14:35852800-35855200	Enhancers	Colonic Mucosa	Colon
17	chr14:35852800-35855200	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr14:35852800-35855200	Enhancers	Stomach Mucosa	stomach
19	chr14:35852800-35855200	Enhancers	Spleen	Spleen
20	chr14:35852800-35855400	Enhancers	Fetal Intestine Large	intestine
21	chr14:35852800-35855400	Enhancers	HUVEC	blood vessel
22	chr14:35852800-35855400	Enhancers	Osteobl	bone
23	chr14:35852800-35855600	Enhancers	Fetal Muscle Trunk	muscle
24	chr14:35852800-35855600	Enhancers	Fetal Stomach	stomach
25	chr14:35852800-35855600	Enhancers	Left Ventricle	heart
26	chr14:35852800-35855600	Enhancers	NHLF	lung
27	chr14:35852800-35856200	Enhancers	Adipose Nuclei	Adipose
28	chr14:35852800-35856400	Enhancers	Fetal Heart	heart
29	chr14:35852800-35856600	Enhancers	NHDF-Ad	bronchial
30	chr14:35852800-35857200	Enhancers	Ovary	ovary
31	chr14:35852800-35857600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr14:35853000-35853600	Enhancers	Colon Smooth Muscle	Colon
33	chr14:35853000-35853800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr14:35853000-35853800	Enhancers	Duodenum Mucosa	Duodenum
35	chr14:35853000-35853800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
36	chr14:35853000-35853800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
37	chr14:35853000-35854200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr14:35853000-35854800	Enhancers	Esophagus	oesophagus
39	chr14:35853000-35855200	Enhancers	Rectal Mucosa Donor 29	rectum
40	chr14:35853000-35855200	Enhancers	Right Atrium	heart
41	chr14:35853000-35855400	Enhancers	Fetal Thymus	thymus
42	chr14:35853000-35855600	Enhancers	Brain Hippocampus Middle	brain
43	chr14:35853000-35855600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr14:35853000-35855600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr14:35853000-35855600	Enhancers	Lung	lung
46	chr14:35853000-35855600	Enhancers	NH-A	brain
47	chr14:35853000-35856000	Enhancers	Right Ventricle	heart
48	chr14:35853200-35853600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr14:35853200-35853600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr14:35853200-35854000	Weak transcription	K562	blood

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