Variant report

Variant	rs4453374
Chromosome Location	chr14:65178802-65178803
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10138311	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17102000	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17102003	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17102005	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17102007	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs41456047	1.00[ASN][1000 genomes]
rs59115111	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73271697	1.00[ASN][1000 genomes]
rs74056388	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs74056389	1.00[ASN][1000 genomes]
rs74056391	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs74056394	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs74056396	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049097	chr14:65027753-65202018	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv1818582	chr14:65172898-65256685	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1035833	chr14:65176371-65246181	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65173800-65179000	Enhancers	Liver	Liver
2	chr14:65175200-65181000	Weak transcription	Hela-S3	cervix
3	chr14:65175200-65181800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr14:65176000-65180000	Weak transcription	Fetal Kidney	kidney
5	chr14:65176000-65186400	Weak transcription	Osteobl	bone
6	chr14:65176200-65179000	Weak transcription	Fetal Muscle Trunk	muscle
7	chr14:65176200-65180400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr14:65176200-65181400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr14:65176200-65182000	Weak transcription	Colonic Mucosa	Colon
10	chr14:65176400-65179000	Enhancers	Brain Cingulate Gyrus	brain
11	chr14:65176400-65179400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr14:65176400-65181200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr14:65176400-65181400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr14:65176400-65181800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr14:65176400-65182000	Weak transcription	Stomach Mucosa	stomach
16	chr14:65176800-65181400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:65176800-65181600	Weak transcription	Esophagus	oesophagus
18	chr14:65176800-65182000	Weak transcription	Gastric	stomach
19	chr14:65177000-65179000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr14:65177000-65179000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr14:65177000-65179200	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr14:65177000-65179600	Weak transcription	Fetal Intestine Large	intestine
23	chr14:65177000-65180200	Weak transcription	HMEC	breast
24	chr14:65177000-65180800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr14:65177000-65181400	Weak transcription	Pancreas	Pancrea
26	chr14:65177000-65181800	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr14:65177000-65189200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr14:65177200-65181400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr14:65177200-65183400	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr14:65177400-65180800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr14:65177600-65180600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr14:65177600-65181400	Weak transcription	Aorta	Aorta
33	chr14:65177800-65179200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr14:65177800-65181200	Weak transcription	Placenta	Placenta
35	chr14:65178000-65179000	Weak transcription	Fetal Heart	heart
36	chr14:65178000-65179400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr14:65178000-65179400	Weak transcription	Fetal Muscle Leg	muscle
38	chr14:65178000-65180800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr14:65178000-65180800	Weak transcription	Brain Angular Gyrus	brain
40	chr14:65178000-65181400	Weak transcription	Left Ventricle	heart
41	chr14:65178000-65181400	Weak transcription	Lung	lung
42	chr14:65178000-65181400	Weak transcription	Right Atrium	heart
43	chr14:65178000-65181600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr14:65178000-65181800	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr14:65178000-65182000	Weak transcription	Ovary	ovary
46	chr14:65178000-65182000	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr14:65178200-65179400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr14:65178200-65179600	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr14:65178200-65180200	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr14:65178200-65180800	Weak transcription	Primary monocytes fromperipheralblood	blood

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