Variant report

Variant	rs12889681
Chromosome Location	chr14:78003759-78003760
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:78003135..78004695-chr14:78224805..78226945,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10136221	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10142919	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1474504	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1973866	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2091915	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2142186	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2178876	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4899657	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4903598	0.94[AFR][1000 genomes]
rs4903601	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4903609	1.00[AMR][1000 genomes]
rs4903612	1.00[AMR][1000 genomes]
rs6574380	0.80[AFR][1000 genomes]
rs6574381	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7156665	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7157643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7400794	1.00[AMR][1000 genomes]
rs7401921	1.00[AFR][1000 genomes]
rs7401985	0.81[AFR][1000 genomes]
rs8003293	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8004422	1.00[AMR][1000 genomes]
rs8010591	1.00[AMR][1000 genomes]
rs8022297	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs926115	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs963897	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9972134	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832835	chr14:77906706-78095207	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1053810	chr14:77987871-78148320	Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77970200-78047200	Weak transcription	Fetal Heart	heart
2	chr14:77972000-78018000	Weak transcription	Hela-S3	cervix
3	chr14:77978000-78013400	Weak transcription	NHDF-Ad	bronchial
4	chr14:77978600-78014600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr14:77978800-78042200	Weak transcription	Fetal Brain Male	brain
6	chr14:77979000-78003800	Weak transcription	K562	blood
7	chr14:77979000-78009400	Weak transcription	Stomach Mucosa	stomach
8	chr14:77979000-78013800	Weak transcription	Pancreas	Pancrea
9	chr14:77985200-78008800	Weak transcription	Gastric	stomach
10	chr14:77985200-78014800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr14:77985400-78007800	Weak transcription	Colon Smooth Muscle	Colon
12	chr14:77985400-78015000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr14:77985600-78007400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr14:77986200-78013800	Weak transcription	Esophagus	oesophagus
15	chr14:77986800-78008600	Weak transcription	Brain Germinal Matrix	brain
16	chr14:77987400-78009200	Weak transcription	Aorta	Aorta
17	chr14:77987400-78021000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr14:77987600-78010200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr14:77987600-78010600	Weak transcription	Left Ventricle	heart
20	chr14:77987800-78007200	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr14:77987800-78008800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr14:77987800-78008800	Weak transcription	Fetal Thymus	thymus
23	chr14:77987800-78013400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr14:77987800-78013600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr14:77987800-78013800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr14:77987800-78014600	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr14:77987800-78014600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr14:77987800-78014800	Weak transcription	Stomach Smooth Muscle	stomach
29	chr14:77987800-78015000	Weak transcription	Thymus	Thymus
30	chr14:77987800-78015600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr14:77987800-78060000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr14:77988000-78003800	Weak transcription	Fetal Kidney	kidney
33	chr14:77988000-78007800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr14:77988000-78007800	Weak transcription	Brain Anterior Caudate	brain
35	chr14:77988000-78007800	Weak transcription	Brain Substantia Nigra	brain
36	chr14:77988000-78008200	Weak transcription	Fetal Muscle Leg	muscle
37	chr14:77988000-78008800	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr14:77988000-78008800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr14:77988000-78009000	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr14:77988000-78010200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr14:77988000-78010600	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr14:77988000-78010800	Weak transcription	Dnd41	blood
43	chr14:77988000-78013800	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr14:77988000-78013800	Weak transcription	Colonic Mucosa	Colon
45	chr14:77988000-78014600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr14:77988000-78014800	Weak transcription	HMEC	breast
47	chr14:77988000-78015200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr14:77988000-78015600	Weak transcription	Right Ventricle	heart
49	chr14:77988400-78004200	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr14:77988400-78013000	Weak transcription	Small Intestine	intestine

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