Variant report

Variant	rs74056388
Chromosome Location	chr14:65179559-65179560
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]
rs4453374	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59115111	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73271697	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:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65175200-65181000	Weak transcription	Hela-S3	cervix
2	chr14:65175200-65181800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr14:65176000-65180000	Weak transcription	Fetal Kidney	kidney
4	chr14:65176000-65186400	Weak transcription	Osteobl	bone
5	chr14:65176200-65180400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr14:65176200-65181400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr14:65176200-65182000	Weak transcription	Colonic Mucosa	Colon
8	chr14:65176400-65181200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr14:65176400-65181400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr14:65176400-65181800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr14:65176400-65182000	Weak transcription	Stomach Mucosa	stomach
12	chr14:65176800-65181400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:65176800-65181600	Weak transcription	Esophagus	oesophagus
14	chr14:65176800-65182000	Weak transcription	Gastric	stomach
15	chr14:65177000-65179600	Weak transcription	Fetal Intestine Large	intestine
16	chr14:65177000-65180200	Weak transcription	HMEC	breast
17	chr14:65177000-65180800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr14:65177000-65181400	Weak transcription	Pancreas	Pancrea
19	chr14:65177000-65181800	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr14:65177000-65189200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr14:65177200-65181400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr14:65177200-65183400	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr14:65177400-65180800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr14:65177600-65180600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr14:65177600-65181400	Weak transcription	Aorta	Aorta
26	chr14:65177800-65181200	Weak transcription	Placenta	Placenta
27	chr14:65178000-65180800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr14:65178000-65180800	Weak transcription	Brain Angular Gyrus	brain
29	chr14:65178000-65181400	Weak transcription	Left Ventricle	heart
30	chr14:65178000-65181400	Weak transcription	Lung	lung
31	chr14:65178000-65181400	Weak transcription	Right Atrium	heart
32	chr14:65178000-65181600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr14:65178000-65181800	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr14:65178000-65182000	Weak transcription	Ovary	ovary
35	chr14:65178000-65182000	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr14:65178200-65179600	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr14:65178200-65180200	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr14:65178200-65180800	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr14:65178200-65181000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr14:65178200-65181000	Weak transcription	NHEK	skin
41	chr14:65178200-65181200	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr14:65178200-65181400	Weak transcription	Fetal Intestine Small	intestine
43	chr14:65178200-65181800	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr14:65178200-65182000	Weak transcription	Fetal Stomach	stomach
45	chr14:65178200-65182000	Weak transcription	Rectal Smooth Muscle	rectum
46	chr14:65178200-65182000	Weak transcription	Stomach Smooth Muscle	stomach
47	chr14:65178600-65180000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr14:65178600-65180400	ZNF genes & repeats	A549	lung
49	chr14:65178800-65180400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr14:65178800-65180800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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