Variant report

Variant	rs73334134
Chromosome Location	chr14:45406002-45406003
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	chr14:45399670..45402178-chr14:45404869..45407117,2	K562	blood:

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

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

rs_ID	r²[population]
rs73334123	1.00[AFR][1000 genomes]
rs73334142	1.00[AFR][1000 genomes]
rs73348989	1.00[AFR][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	nsv869289	chr14:44752382-45447415	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv901832	chr14:44847444-45415597	Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv1047886	chr14:45189653-45543182	Strong transcription Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv542079	chr14:45189653-45543182	Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv901841	chr14:45198196-45719643	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
6	nsv1053437	chr14:45232269-45424222	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	esv1795667	chr14:45361680-45721052	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
8	esv1794986	chr14:45368685-45650813	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
9	nsv1042585	chr14:45401506-45497907	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45382000-45408000	Weak transcription	Pancreas	Pancrea
2	chr14:45384400-45406800	Weak transcription	Fetal Muscle Leg	muscle
3	chr14:45384800-45408000	Weak transcription	Brain Hippocampus Middle	brain
4	chr14:45389600-45406800	Weak transcription	HSMMtube	muscle
5	chr14:45390200-45406800	Weak transcription	Fetal Stomach	stomach
6	chr14:45390400-45406600	Weak transcription	Brain Germinal Matrix	brain
7	chr14:45390400-45408200	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr14:45390600-45408400	Weak transcription	Fetal Brain Female	brain
9	chr14:45391200-45411000	Weak transcription	HSMM	muscle
10	chr14:45391200-45413000	Weak transcription	HUVEC	blood vessel
11	chr14:45391400-45406400	Weak transcription	Fetal Intestine Small	intestine
12	chr14:45391400-45406800	Weak transcription	Thymus	Thymus
13	chr14:45394200-45413800	Weak transcription	HepG2	liver
14	chr14:45394400-45408000	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr14:45394600-45408000	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr14:45394800-45406800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr14:45395000-45408000	Weak transcription	Gastric	stomach
18	chr14:45395200-45412400	Weak transcription	Brain Anterior Caudate	brain
19	chr14:45395200-45413800	Weak transcription	Fetal Brain Male	brain
20	chr14:45395400-45408000	Weak transcription	Brain Angular Gyrus	brain
21	chr14:45395400-45414400	Weak transcription	NH-A	brain
22	chr14:45395600-45416200	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr14:45395800-45406600	Weak transcription	Fetal Kidney	kidney
24	chr14:45395800-45408000	Weak transcription	Spleen	Spleen
25	chr14:45396200-45406800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr14:45396200-45428400	Weak transcription	HMEC	breast
27	chr14:45396400-45406800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr14:45396600-45406800	Weak transcription	Duodenum Mucosa	Duodenum
29	chr14:45396600-45408000	Weak transcription	Rectal Smooth Muscle	rectum
30	chr14:45396600-45414200	Weak transcription	Ovary	ovary
31	chr14:45396600-45416400	Weak transcription	Psoas Muscle	Psoas
32	chr14:45396800-45408000	Weak transcription	Brain Cingulate Gyrus	brain
33	chr14:45396800-45408000	Weak transcription	Lung	lung
34	chr14:45396800-45413000	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr14:45396800-45414200	Weak transcription	Fetal Heart	heart
36	chr14:45397000-45414200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr14:45397000-45417000	Weak transcription	Stomach Mucosa	stomach
38	chr14:45397200-45407600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr14:45397800-45409400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr14:45397800-45414200	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr14:45398200-45406800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr14:45398200-45408000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr14:45398200-45408200	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr14:45398400-45406800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr14:45398400-45406800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr14:45398400-45414400	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr14:45398800-45406800	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr14:45399000-45406800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr14:45399200-45406800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr14:45399600-45407800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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