Variant report

Variant	rs538902528
Chromosome Location	chr14:63754014-63754015
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	chr14:63749402..63752016-chr14:63753123..63755762,3	K562	blood:
2	chr14:63749402..63752016-chr14:63753123..63755149,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 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	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
8	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
9	nsv832815	chr14:63750058-63913900	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv1051684	chr14:63752916-63867677	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:50 , 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	chr14:63737200-63755400	Weak transcription	Fetal Intestine Large	intestine
5	chr14:63738000-63757800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr14:63739400-63759400	Weak transcription	Fetal Intestine Small	intestine
7	chr14:63740800-63755400	Weak transcription	Psoas Muscle	Psoas
8	chr14:63740800-63762800	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr14:63740800-63768000	Weak transcription	Right Ventricle	heart
10	chr14:63741000-63757600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr14:63744000-63755400	Weak transcription	HMEC	breast
12	chr14:63744000-63757600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr14:63744000-63761800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr14:63747000-63757600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr14:63747000-63761200	Strong transcription	NH-A	brain
16	chr14:63747400-63760200	Strong transcription	HUVEC	blood vessel
17	chr14:63750400-63755800	Strong transcription	Left Ventricle	heart
18	chr14:63750600-63756600	Strong transcription	Fetal Muscle Trunk	muscle
19	chr14:63750600-63757600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr14:63750800-63757400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr14:63751400-63754800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr14:63751400-63762200	Weak transcription	Right Atrium	heart
23	chr14:63751600-63762400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr14:63752000-63757600	Weak transcription	Stomach Smooth Muscle	stomach
25	chr14:63752000-63761600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr14:63752000-63762000	Weak transcription	Colon Smooth Muscle	Colon
27	chr14:63752200-63755800	Weak transcription	GM12878-XiMat	blood
28	chr14:63752200-63756400	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr14:63752200-63760600	Weak transcription	Rectal Smooth Muscle	rectum
30	chr14:63752200-63762000	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr14:63752400-63755200	Strong transcription	Ovary	ovary
32	chr14:63752400-63760400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr14:63752400-63760800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr14:63752800-63755400	Strong transcription	Fetal Lung	lung
35	chr14:63752800-63756200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr14:63753000-63754800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr14:63753000-63757400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr14:63753000-63757800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr14:63753000-63757800	Weak transcription	Pancreas	Pancrea
40	chr14:63753200-63754800	Weak transcription	Adipose Nuclei	Adipose
41	chr14:63753200-63755000	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr14:63753200-63757600	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr14:63753200-63757600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr14:63753200-63757600	Weak transcription	Lung	lung
45	chr14:63753200-63761400	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr14:63753400-63754800	Weak transcription	Fetal Stomach	stomach
47	chr14:63753400-63757800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr14:63753600-63754400	Weak transcription	Fetal Muscle Leg	muscle
49	chr14:63753800-63755600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr14:63753800-63756200	Enhancers	NHDF-Ad	bronchial

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