Variant report

Variant	rs17104069
Chromosome Location	chr14:67634344-67634345
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1405856	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1405857	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17103786	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17103794	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17103813	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17103815	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17103816	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17103822	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17103826	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17103833	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17103847	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17103876	1.00[AFR][1000 genomes]
rs17103891	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17103910	1.00[AFR][1000 genomes]
rs17103917	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17103933	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17103940	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17103943	1.00[AFR][1000 genomes]
rs17103954	1.00[AMR][1000 genomes]
rs17103993	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17104026	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17104066	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17104097	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17104112	1.00[AMR][1000 genomes]
rs17104116	1.00[AMR][1000 genomes]
rs2026652	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2026654	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72715340	0.83[AFR][1000 genomes]
rs72715344	1.00[AFR][1000 genomes]
rs72715348	1.00[AFR][1000 genomes]
rs72715349	1.00[AFR][1000 genomes]
rs72715354	1.00[AFR][1000 genomes]
rs72715355	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv902058	chr14:67310195-67760538	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv902059	chr14:67352226-67760538	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	esv2751285	chr14:67364747-67886781	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv902060	chr14:67417083-67760538	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv1045518	chr14:67529049-67959582	Strong transcription Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
6	nsv832821	chr14:67590418-67828169	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67584200-67637400	Weak transcription	Pancreas	Pancrea
2	chr14:67588000-67639400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr14:67588400-67639200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr14:67588600-67638400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr14:67590200-67637400	Weak transcription	Aorta	Aorta
6	chr14:67590200-67638000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr14:67590800-67637600	Weak transcription	Stomach Smooth Muscle	stomach
8	chr14:67591400-67640000	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr14:67600800-67647400	Weak transcription	Fetal Kidney	kidney
10	chr14:67610600-67634600	Weak transcription	Ovary	ovary
11	chr14:67610800-67638400	Weak transcription	Left Ventricle	heart
12	chr14:67613000-67640200	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr14:67613200-67637400	Weak transcription	Adipose Nuclei	Adipose
14	chr14:67614400-67653200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr14:67615000-67634600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr14:67618400-67639200	Weak transcription	Brain Hippocampus Middle	brain
17	chr14:67618400-67658200	Weak transcription	Brain Angular Gyrus	brain
18	chr14:67625400-67638800	Weak transcription	GM12878-XiMat	blood
19	chr14:67626000-67638600	Weak transcription	Esophagus	oesophagus
20	chr14:67626400-67639800	Weak transcription	Primary T cells from cord blood	blood
21	chr14:67627000-67637400	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr14:67627000-67638400	Weak transcription	Fetal Stomach	stomach
23	chr14:67629800-67637400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr14:67630000-67645600	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr14:67630400-67637200	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr14:67631600-67637600	Weak transcription	Fetal Intestine Small	intestine
27	chr14:67631600-67645800	Weak transcription	Psoas Muscle	Psoas
28	chr14:67631800-67638600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr14:67632400-67634600	Weak transcription	Liver	Liver
30	chr14:67632400-67640000	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr14:67632600-67638800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr14:67632800-67636000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr14:67633200-67637200	Weak transcription	Right Ventricle	heart
34	chr14:67633200-67640000	Weak transcription	Brain Anterior Caudate	brain
35	chr14:67633200-67640000	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr14:67633200-67645400	Weak transcription	Rectal Smooth Muscle	rectum
37	chr14:67633400-67637400	Weak transcription	Gastric	stomach
38	chr14:67633400-67639800	Weak transcription	Dnd41	blood
39	chr14:67633600-67636000	Enhancers	A549	lung
40	chr14:67633600-67637200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr14:67633600-67637200	Weak transcription	Brain Cingulate Gyrus	brain
42	chr14:67633600-67637600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr14:67633600-67640000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr14:67633600-67640200	Weak transcription	Colon Smooth Muscle	Colon
45	chr14:67633800-67638200	Weak transcription	Fetal Muscle Leg	muscle
46	chr14:67634200-67635000	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr14:67634200-67635000	Enhancers	NH-A	brain
48	chr14:67634200-67635000	Enhancers	NHEK	skin
49	chr14:67634200-67635200	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr14:67634200-67635200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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