Variant report

Variant	rs11621989
Chromosome Location	chr14:64425626-64425627
allele	C/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:8)

rs_ID	r²[population]
rs11158526	1.00[CEU][hapmap]
rs11158529	1.00[CEU][hapmap]
rs11628107	1.00[CEU][hapmap]
rs11850509	1.00[CEU][hapmap]
rs12432035	1.00[CEU][hapmap]
rs12435492	1.00[CEU][hapmap]
rs17093516	0.81[EUR][1000 genomes]
rs17101554	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915909	chr14:63620440-64560369	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1038825	chr14:64109441-64491720	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1037140	chr14:64248421-64442980	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv542119	chr14:64248421-64442980	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv1793389	chr14:64346190-64457224	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv902019	chr14:64395569-64882380	Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
7	nsv456326	chr14:64420413-64754361	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
8	nsv564905	chr14:64420413-64754361	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64365000-64430200	Weak transcription	Fetal Brain Male	brain
2	chr14:64395000-64491000	Weak transcription	Psoas Muscle	Psoas
3	chr14:64401400-64430200	Weak transcription	Stomach Mucosa	stomach
4	chr14:64401600-64427800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr14:64403600-64432800	Weak transcription	Lung	lung
6	chr14:64406200-64434400	Weak transcription	Hela-S3	cervix
7	chr14:64408200-64432000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr14:64408400-64430200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr14:64410000-64429600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr14:64414400-64439600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:64415400-64435800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr14:64415600-64439000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr14:64416200-64426400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr14:64416800-64427400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr14:64416800-64458600	Weak transcription	Gastric	stomach
16	chr14:64417000-64427400	Weak transcription	Aorta	Aorta
17	chr14:64417000-64430800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr14:64417000-64459200	Weak transcription	NHEK	skin
19	chr14:64417000-64466000	Weak transcription	Colon Smooth Muscle	Colon
20	chr14:64417200-64458600	Weak transcription	Esophagus	oesophagus
21	chr14:64417400-64427600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr14:64417400-64466200	Weak transcription	Right Ventricle	heart
23	chr14:64417600-64459200	Weak transcription	Pancreas	Pancrea
24	chr14:64418000-64435000	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr14:64418000-64463000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr14:64418200-64450800	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr14:64418400-64458600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr14:64419000-64427400	Weak transcription	Fetal Kidney	kidney
29	chr14:64419000-64427600	Weak transcription	Primary B cells from cord blood	blood
30	chr14:64419000-64432200	Weak transcription	Fetal Thymus	thymus
31	chr14:64419000-64432800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr14:64419000-64433000	Weak transcription	Fetal Intestine Small	intestine
33	chr14:64419000-64463000	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr14:64419200-64427800	Weak transcription	Thymus	Thymus
35	chr14:64419200-64432000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr14:64419200-64438800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr14:64419200-64489000	Weak transcription	Small Intestine	intestine
38	chr14:64419400-64448200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr14:64419400-64459000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr14:64419400-64459200	Weak transcription	HMEC	breast
41	chr14:64420000-64427800	Weak transcription	Fetal Lung	lung
42	chr14:64420000-64427800	Weak transcription	Osteobl	bone
43	chr14:64420000-64429200	Weak transcription	Fetal Brain Female	brain
44	chr14:64420000-64458000	Weak transcription	Colonic Mucosa	Colon
45	chr14:64420200-64427800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr14:64420200-64430200	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr14:64420200-64432200	Weak transcription	Spleen	Spleen
48	chr14:64420200-64432200	Weak transcription	GM12878-XiMat	blood
49	chr14:64420200-64433800	Weak transcription	Brain Germinal Matrix	brain
50	chr14:64420200-64442400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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