Variant report

Variant	rs2273181
Chromosome Location	chr14:63749824-63749825
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:63749402..63752016-chr14:63753123..63755149,2	K562	blood:
2	chr14:63749402..63752016-chr14:63753123..63755762,3	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2144113	0.90[ASN][1000 genomes]
rs4902217	0.83[ASN][1000 genomes]
rs9635175	0.95[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	nsv527251	chr14:63400786-64068806	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv520528	chr14:63400786-64157117	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv564893	chr14:63526931-63796122	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1045599	chr14:63540073-63765152	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv530774	chr14:63591348-64029881	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv915909	chr14:63620440-64560369	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
7	nsv516899	chr14:63734499-63753078	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv521404	chr14:63741113-63758106	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv431011	chr14:63743247-63866686	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:63716000-63754600	Weak transcription	Aorta	Aorta
2	chr14:63717400-63754800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr14:63730800-63766000	Weak transcription	Spleen	Spleen
4	chr14:63736600-63750800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr14:63737200-63755400	Weak transcription	Fetal Intestine Large	intestine
6	chr14:63737400-63751200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr14:63738000-63757800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr14:63739400-63759400	Weak transcription	Fetal Intestine Small	intestine
9	chr14:63740800-63750400	Weak transcription	Left Ventricle	heart
10	chr14:63740800-63755400	Weak transcription	Psoas Muscle	Psoas
11	chr14:63740800-63762800	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr14:63740800-63768000	Weak transcription	Right Ventricle	heart
13	chr14:63741000-63751000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr14:63741000-63757600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr14:63741400-63751200	Weak transcription	Ovary	ovary
16	chr14:63743400-63750000	Weak transcription	Fetal Heart	heart
17	chr14:63744000-63755400	Weak transcription	HMEC	breast
18	chr14:63744000-63757600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr14:63744000-63761800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr14:63747000-63757600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr14:63747000-63761200	Strong transcription	NH-A	brain
22	chr14:63747400-63760200	Strong transcription	HUVEC	blood vessel
23	chr14:63747800-63752800	Weak transcription	Lung	lung
24	chr14:63748000-63750600	Weak transcription	Fetal Muscle Trunk	muscle
25	chr14:63748000-63751000	Weak transcription	Fetal Muscle Leg	muscle
26	chr14:63748000-63752800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr14:63748800-63751000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr14:63748800-63751000	Enhancers	Fetal Lung	lung
29	chr14:63748800-63751200	Enhancers	Fetal Brain Male	brain
30	chr14:63748800-63751200	Enhancers	Fetal Stomach	stomach
31	chr14:63749000-63752200	Genic enhancers	Cortex derived primary cultured neurospheres	brain
32	chr14:63749200-63751600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr14:63749400-63750200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr14:63749400-63750200	Enhancers	Brain Angular Gyrus	brain
35	chr14:63749600-63750000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr14:63749600-63750000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr14:63749600-63750000	Active TSS	NHDF-Ad	bronchial
38	chr14:63749600-63750600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr14:63749600-63750600	Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr14:63749600-63751000	Enhancers	Colon Smooth Muscle	Colon
41	chr14:63749600-63751000	Active TSS	Stomach Smooth Muscle	stomach
42	chr14:63749800-63750000	Active TSS	GM12878-XiMat	blood
43	chr14:63749800-63750200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr14:63749800-63750200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr14:63749800-63750200	Active TSS	Adipose Nuclei	Adipose
46	chr14:63749800-63750200	Active TSS	Duodenum Mucosa	Duodenum
47	chr14:63749800-63750200	Active TSS	Rectal Mucosa Donor 29	rectum
48	chr14:63749800-63750200	Flanking Active TSS	Rectal Smooth Muscle	rectum

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