Variant report

Variant	rs1984988
Chromosome Location	chr14:55916938-55916939
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:55913503..55916476-chr14:55916660..55918746,2	K562	blood:
2	chr14:55911475..55914836-chr14:55916178..55919121,4	MCF-7	breast:
3	chr14:55912884..55915003-chr14:55916118..55918746,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10483641	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17128484	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17128488	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17128493	0.99[AFR][1000 genomes]
rs17743484	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17743595	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17744929	1.00[ASN][1000 genomes]
rs17745017	1.00[ASN][1000 genomes]
rs1959443	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41299189	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41437744	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45612333	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59169706	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs713473	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs713474	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs713475	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8015252	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv901958	chr14:55822095-56045411	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv901960	chr14:55853724-56085130	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv901961	chr14:55853724-56101879	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	nsv901962	chr14:55862956-56101879	Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv901963	chr14:55871452-56085130	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv901964	chr14:55871452-56101879	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
7	nsv564874	chr14:55879685-56027815	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv1051564	chr14:55895610-56130788	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
9	nsv542103	chr14:55895610-56130788	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55912600-55922000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr14:55913000-55919000	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr14:55913600-55921200	Weak transcription	HSMMtube	muscle
4	chr14:55913600-55925000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr14:55913800-55917400	Weak transcription	Small Intestine	intestine
6	chr14:55913800-55917600	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr14:55913800-55918200	Weak transcription	Left Ventricle	heart
8	chr14:55913800-55919200	Enhancers	Fetal Heart	heart
9	chr14:55913800-55920400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr14:55914000-55920600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr14:55914000-55920600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr14:55914000-55921000	Weak transcription	Brain Anterior Caudate	brain
13	chr14:55915000-55917600	Weak transcription	Esophagus	oesophagus
14	chr14:55915000-55918000	Weak transcription	Right Atrium	heart
15	chr14:55915000-55918600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr14:55915200-55917400	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr14:55915200-55918600	Weak transcription	Fetal Stomach	stomach
18	chr14:55915200-55920600	Weak transcription	Duodenum Mucosa	Duodenum
19	chr14:55915400-55918000	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr14:55915400-55918200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr14:55915400-55918200	Weak transcription	Fetal Muscle Leg	muscle
22	chr14:55915400-55919000	Enhancers	NHEK	skin
23	chr14:55915400-55920600	Weak transcription	Colon Smooth Muscle	Colon
24	chr14:55915600-55917200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr14:55915600-55917600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr14:55915600-55918000	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr14:55915600-55918000	Weak transcription	NHLF	lung
28	chr14:55915600-55918200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr14:55915600-55918200	Weak transcription	NHDF-Ad	bronchial
30	chr14:55915600-55921000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr14:55915800-55918200	Weak transcription	NH-A	brain
32	chr14:55915800-55920800	Weak transcription	Fetal Brain Female	brain
33	chr14:55916200-55917000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr14:55916200-55917400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr14:55916200-55917600	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr14:55916200-55918200	Weak transcription	Osteobl	bone
37	chr14:55916400-55917600	Weak transcription	HMEC	breast
38	chr14:55916600-55917000	Weak transcription	HUVEC	blood vessel
39	chr14:55916600-55917600	Weak transcription	A549	lung
40	chr14:55916600-55918200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr14:55916600-55918800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr14:55916600-55919000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr14:55916600-55920600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr14:55916800-55917000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr14:55916800-55917800	Weak transcription	Hela-S3	cervix
46	chr14:55916800-55918800	Enhancers	Stomach Mucosa	stomach
47	chr14:55916800-55919000	Enhancers	Primary hematopoietic stem cells short term culture	blood

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