Variant report

Variant	rs56250330
Chromosome Location	chr14:31203303-31203304
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10129681	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10130571	0.81[AMR][1000 genomes]
rs10132255	1.00[AMR][1000 genomes]
rs10132507	0.81[AMR][1000 genomes]
rs10135625	1.00[AMR][1000 genomes]
rs10135741	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10140530	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10141104	1.00[AMR][1000 genomes]
rs10141346	1.00[AMR][1000 genomes]
rs10141827	1.00[AMR][1000 genomes]
rs10142125	1.00[AMR][1000 genomes]
rs10142747	0.81[AMR][1000 genomes]
rs10143105	0.81[AMR][1000 genomes]
rs10143565	0.90[AMR][1000 genomes]
rs10148278	0.81[AMR][1000 genomes]
rs10148782	0.81[AMR][1000 genomes]
rs10151934	1.00[AMR][1000 genomes]
rs10152019	1.00[AMR][1000 genomes]
rs10152074	1.00[AMR][1000 genomes]
rs10220596	1.00[AMR][1000 genomes]
rs2157700	0.81[AMR][1000 genomes]
rs28440085	1.00[AMR][1000 genomes]
rs28495989	1.00[AMR][1000 genomes]
rs28542156	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28649144	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28649328	1.00[AMR][1000 genomes]
rs28721907	1.00[AMR][1000 genomes]
rs28798220	1.00[AMR][1000 genomes]
rs28860821	1.00[AMR][1000 genomes]
rs2889991	1.00[AMR][1000 genomes]
rs60108812	1.00[AMR][1000 genomes]
rs6571355	1.00[AMR][1000 genomes]
rs7140200	0.89[AMR][1000 genomes]
rs7144286	1.00[AMR][1000 genomes]
rs7149384	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7150097	1.00[AMR][1000 genomes]
rs7154354	1.00[AMR][1000 genomes]
rs7156057	0.81[AMR][1000 genomes]
rs7156916	0.90[AMR][1000 genomes]
rs7157203	1.00[AMR][1000 genomes]
rs7159972	0.81[AMR][1000 genomes]
rs7359107	0.81[AMR][1000 genomes]
rs74041103	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74041112	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74041117	1.00[AMR][1000 genomes]
rs74041128	1.00[AMR][1000 genomes]
rs74041241	0.81[AMR][1000 genomes]
rs8006594	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8010048	0.81[AMR][1000 genomes]
rs8012029	1.00[AMR][1000 genomes]
rs8014497	1.00[AMR][1000 genomes]
rs8019014	0.90[AMR][1000 genomes]
rs8022976	0.81[AMR][1000 genomes]
rs9806012	1.00[AMR][1000 genomes]
rs9944142	1.00[AMR][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	nsv564169	chr14:30819087-31541494	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1036419	chr14:30969616-31224226	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS 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	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31113800-31205400	Weak transcription	Fetal Brain Male	brain
2	chr14:31122800-31205200	Weak transcription	Brain Angular Gyrus	brain
3	chr14:31123000-31212000	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr14:31123400-31216400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr14:31160000-31206600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr14:31160000-31207200	Weak transcription	Right Ventricle	heart
7	chr14:31160400-31205000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr14:31160800-31206200	Weak transcription	Small Intestine	intestine
9	chr14:31162400-31204000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr14:31165000-31208200	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr14:31166000-31204200	Weak transcription	Colonic Mucosa	Colon
12	chr14:31166000-31205600	Weak transcription	Thymus	Thymus
13	chr14:31166400-31214200	Weak transcription	Pancreas	Pancrea
14	chr14:31168200-31205800	Weak transcription	Esophagus	oesophagus
15	chr14:31168200-31206000	Weak transcription	Gastric	stomach
16	chr14:31168200-31208600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr14:31171600-31205800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr14:31177600-31205400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr14:31179000-31207400	Weak transcription	Fetal Kidney	kidney
20	chr14:31179200-31205200	Weak transcription	Stomach Smooth Muscle	stomach
21	chr14:31180000-31205400	Weak transcription	NHLF	lung
22	chr14:31181600-31207000	Weak transcription	Hela-S3	cervix
23	chr14:31186000-31204000	Weak transcription	Brain Anterior Caudate	brain
24	chr14:31186400-31206200	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr14:31192800-31204200	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr14:31193000-31207200	Weak transcription	Brain Germinal Matrix	brain
27	chr14:31193000-31207800	Weak transcription	A549	lung
28	chr14:31196000-31207400	Weak transcription	Colon Smooth Muscle	Colon
29	chr14:31196000-31208800	Weak transcription	HUVEC	blood vessel
30	chr14:31196200-31208600	Weak transcription	Spleen	Spleen
31	chr14:31196400-31208400	Weak transcription	Lung	lung
32	chr14:31196400-31216800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr14:31197000-31204200	Weak transcription	HSMMtube	muscle
34	chr14:31197200-31204200	Weak transcription	Left Ventricle	heart
35	chr14:31197200-31205200	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr14:31197400-31204000	Weak transcription	Brain Hippocampus Middle	brain
37	chr14:31197600-31204000	Weak transcription	HMEC	breast
38	chr14:31197600-31207800	Weak transcription	K562	blood
39	chr14:31197600-31208000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr14:31197800-31205200	Weak transcription	NHEK	skin
41	chr14:31197800-31207000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr14:31198000-31204000	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr14:31198000-31204200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr14:31198000-31205200	Weak transcription	Fetal Heart	heart
45	chr14:31198200-31206000	Weak transcription	Aorta	Aorta
46	chr14:31199000-31203400	Weak transcription	NHDF-Ad	bronchial
47	chr14:31199000-31204000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr14:31199200-31203400	Weak transcription	Fetal Intestine Large	intestine
49	chr14:31199200-31203600	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr14:31199200-31205200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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