Variant report

Variant	rs71446831
Chromosome Location	chr13:67568372-67568373
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	chr13:67562882..67565273-chr13:67566706..67568513,2	K562	blood:

Variant related genes	Relation type
ENSG00000233840	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12855007	1.00[EUR][1000 genomes]
rs12864857	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12865366	0.84[EUR][1000 genomes]
rs12869289	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12876475	1.00[EUR][1000 genomes]
rs12877253	1.00[AMR][1000 genomes]
rs17195217	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17195231	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17195252	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17791019	1.00[AMR][1000 genomes]
rs34007733	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34439981	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35271996	1.00[EUR][1000 genomes]
rs35346818	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4300510	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71427632	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71427633	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71427635	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71446833	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530605	chr13:67126136-67697306	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1035741	chr13:67212973-68077950	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv541817	chr13:67212973-68077950	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv900407	chr13:67434161-67603745	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv832640	chr13:67460304-67635966	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv428604	chr13:67480426-67645030	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv900412	chr13:67512877-67572221	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv900414	chr13:67515590-67701341	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1045093	chr13:67517932-67693875	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv541821	chr13:67517932-67693875	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv541822	chr13:67550756-67594021	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:67566400-67568400	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr13:67566600-67571400	Weak transcription	Gastric	stomach
3	chr13:67566800-67568400	Enhancers	Primary B cells from cord blood	blood
4	chr13:67567000-67568400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr13:67567200-67569000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr13:67567200-67569600	Active TSS	A549	lung
7	chr13:67567600-67568600	Enhancers	Primary B cells from peripheral blood	blood
8	chr13:67567600-67568800	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr13:67567600-67568800	Active TSS	Brain Anterior Caudate	brain
10	chr13:67567600-67568800	Active TSS	Brain Cingulate Gyrus	brain
11	chr13:67567600-67568800	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr13:67567800-67568400	Enhancers	H9 Cell Line	embryonic stem cell
13	chr13:67567800-67568400	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr13:67567800-67568400	Active TSS	Brain Hippocampus Middle	brain
15	chr13:67567800-67568800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr13:67567800-67568800	Active TSS	Brain Substantia Nigra	brain
17	chr13:67568000-67568400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr13:67568000-67568600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr13:67568000-67568600	Active TSS	Liver	Liver
20	chr13:67568000-67568800	Active TSS	Adipose Nuclei	Adipose
21	chr13:67568000-67568800	Active TSS	Aorta	Aorta
22	chr13:67568000-67568800	Active TSS	Brain Angular Gyrus	brain
23	chr13:67568000-67569000	Enhancers	Fetal Brain Male	brain
24	chr13:67568000-67569000	Active TSS	Osteobl	bone
25	chr13:67568000-67569600	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr13:67568000-67571800	Enhancers	Dnd41	blood
27	chr13:67568200-67568400	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr13:67568200-67568400	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr13:67568200-67568400	Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr13:67568200-67568400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr13:67568200-67568400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr13:67568200-67568400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr13:67568200-67568400	Active TSS	Muscle Satellite Cultured Cells	--
34	chr13:67568200-67568400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr13:67568200-67568400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr13:67568200-67568400	Active TSS	Fetal Intestine Small	intestine
37	chr13:67568200-67568400	Active TSS	Left Ventricle	heart
38	chr13:67568200-67568400	Flanking Active TSS	NH-A	brain
39	chr13:67568200-67568600	Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr13:67568200-67568600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr13:67568200-67568600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr13:67568200-67568600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr13:67568200-67568600	Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr13:67568200-67568600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
45	chr13:67568200-67568600	Active TSS	Fetal Intestine Large	intestine
46	chr13:67568200-67568600	Active TSS	Fetal Kidney	kidney
47	chr13:67568200-67568600	Active TSS	Fetal Muscle Leg	muscle
48	chr13:67568200-67568600	Active TSS	Fetal Stomach	stomach
49	chr13:67568200-67568600	Active TSS	Rectal Mucosa Donor 29	rectum
50	chr13:67568200-67568600	Active TSS	Skeletal Muscle Male	skeletal muscle

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