Variant report

Variant	rs61990909
Chromosome Location	chr14:67514242-67514243
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2874025	1.00[ASN][1000 genomes]
rs41301475	1.00[ASN][1000 genomes]
rs61990916	1.00[ASN][1000 genomes]
rs61990920	1.00[ASN][1000 genomes]
rs61990925	1.00[ASN][1000 genomes]
rs61990936	1.00[ASN][1000 genomes]
rs763286	1.00[ASN][1000 genomes]
rs8012697	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525460	chr14:66851185-67626594	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	esv1834170	chr14:67103140-67527235	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv2829998	chr14:67103579-67626594	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv1838724	chr14:67232573-67527235	Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv2763071	chr14:67284476-67597237	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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
9	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
10	esv1841498	chr14:67434470-67634318	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv564960	chr14:67449344-67549803	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv1038122	chr14:67487040-67528205	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	esv3429238	chr14:67511271-67514262	Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67511600-67514600	Weak transcription	Osteobl	bone
2	chr14:67511600-67516600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr14:67511600-67516600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr14:67511600-67517000	Weak transcription	Dnd41	blood
5	chr14:67511600-67517200	Weak transcription	Ovary	ovary
6	chr14:67511600-67517400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr14:67511600-67517400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr14:67511600-67517400	Weak transcription	Adipose Nuclei	Adipose
9	chr14:67511600-67517400	Weak transcription	Aorta	Aorta
10	chr14:67511600-67517400	Weak transcription	Esophagus	oesophagus
11	chr14:67511600-67517400	Weak transcription	Fetal Stomach	stomach
12	chr14:67511600-67517400	Weak transcription	Left Ventricle	heart
13	chr14:67511600-67517400	Weak transcription	Pancreas	Pancrea
14	chr14:67511600-67517400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr14:67511600-67517600	Weak transcription	Duodenum Mucosa	Duodenum
16	chr14:67511600-67517600	Weak transcription	Spleen	Spleen
17	chr14:67511600-67517800	Weak transcription	Primary hematopoietic stem cells	blood
18	chr14:67511600-67517800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr14:67511600-67517800	Weak transcription	Thymus	Thymus
20	chr14:67511600-67518200	Weak transcription	Hela-S3	cervix
21	chr14:67511600-67518400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr14:67511600-67518400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr14:67511600-67518400	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr14:67511600-67518400	Weak transcription	Right Ventricle	heart
25	chr14:67511600-67519000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr14:67511600-67519200	Weak transcription	Brain Substantia Nigra	brain
27	chr14:67511600-67519200	Weak transcription	Colon Smooth Muscle	Colon
28	chr14:67511600-67524000	Weak transcription	Gastric	stomach
29	chr14:67511600-67527200	Weak transcription	Brain Angular Gyrus	brain
30	chr14:67511600-67528800	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr14:67511600-67529000	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr14:67511600-67529400	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr14:67511600-67530200	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr14:67511600-67530400	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr14:67511600-67536000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr14:67511600-67538000	Weak transcription	Stomach Smooth Muscle	stomach
37	chr14:67511600-67544600	Weak transcription	Brain Hippocampus Middle	brain
38	chr14:67511600-67544800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr14:67511600-67556200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr14:67512200-67516600	Weak transcription	GM12878-XiMat	blood
41	chr14:67512600-67516600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr14:67512800-67525800	Weak transcription	Brain Cingulate Gyrus	brain
43	chr14:67513400-67515000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr14:67513800-67515000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr14:67514200-67514800	Strong transcription	Liver	Liver

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