Variant report

Variant	rs61972944
Chromosome Location	chr13:96618946-96618947
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17885543	1.00[EUR][1000 genomes]
rs61966750	1.00[EUR][1000 genomes]
rs61972864	1.00[AFR][1000 genomes]
rs61972925	1.00[EUR][1000 genomes]
rs61975194	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832691	chr13:96478098-96659823	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv900935	chr13:96497070-96631221	Strong transcription ZNF genes & repeats Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1050430	chr13:96508530-97020734	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv541883	chr13:96508530-97020734	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv1041165	chr13:96522021-96966520	Enhancers Bivalent/Poised TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1051574	chr13:96550653-96779248	Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv1040320	chr13:96573646-96790859	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:96577000-96623200	Weak transcription	NHLF	lung
2	chr13:96591600-96622000	Weak transcription	Hela-S3	cervix
3	chr13:96599000-96623600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr13:96599400-96620600	Weak transcription	HSMM	muscle
5	chr13:96600200-96620800	Weak transcription	Osteobl	bone
6	chr13:96604000-96620600	Weak transcription	Left Ventricle	heart
7	chr13:96609400-96623600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr13:96609800-96636200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr13:96611800-96620600	Weak transcription	Ovary	ovary
10	chr13:96612000-96620600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr13:96612200-96620600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr13:96612200-96620600	Weak transcription	Aorta	Aorta
13	chr13:96612200-96620800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr13:96612200-96622800	Weak transcription	Spleen	Spleen
15	chr13:96612200-96623600	Weak transcription	Placenta	Placenta
16	chr13:96612200-96655000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr13:96612200-96668600	Weak transcription	Pancreas	Pancrea
18	chr13:96612400-96621000	Weak transcription	Stomach Smooth Muscle	stomach
19	chr13:96612400-96623200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr13:96613200-96694200	Weak transcription	A549	lung
21	chr13:96613400-96620600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr13:96613400-96623200	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr13:96613400-96634000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr13:96613400-96641600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr13:96613400-96643000	Weak transcription	Right Ventricle	heart
26	chr13:96613600-96650000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr13:96613600-96663600	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr13:96614000-96652400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr13:96614200-96621400	Weak transcription	Rectal Smooth Muscle	rectum
30	chr13:96615000-96620800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr13:96615400-96620600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr13:96615800-96620600	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr13:96615800-96620800	Weak transcription	Adipose Nuclei	Adipose
34	chr13:96616200-96623000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr13:96616200-96623800	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr13:96616200-96668600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr13:96616400-96620800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr13:96616400-96624200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr13:96616400-96627000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr13:96616400-96636200	Weak transcription	Brain Cingulate Gyrus	brain
41	chr13:96616600-96620600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr13:96616600-96623400	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr13:96616800-96623800	Weak transcription	Liver	Liver
44	chr13:96616800-96624600	Weak transcription	Brain Angular Gyrus	brain
45	chr13:96616800-96628400	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr13:96616800-96668400	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr13:96617000-96649000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr13:96617000-96663200	Weak transcription	NHDF-Ad	bronchial
49	chr13:96617200-96621800	Weak transcription	Brain Anterior Caudate	brain
50	chr13:96617200-96625200	Weak transcription	Fetal Muscle Leg	muscle

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