Variant report

Variant	rs16997026
Chromosome Location	chr21:40296701-40296702
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:40287929..40293314-chr21:40293735..40297286,6	MCF-7	breast:
2	chr21:40176799..40179085-chr21:40295481..40298439,2	K562	blood:

Variant related genes	Relation type
ENSG00000157557	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs7283207	1.00[EUR][1000 genomes]
rs73903652	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062425	chr21:40172471-40380976	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544442	chr21:40172471-40380976	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv587477	chr21:40228920-40512004	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv587479	chr21:40282556-40297536	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40287000-40297000	Weak transcription	Lung	lung
2	chr21:40287000-40297400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr21:40287000-40297400	Weak transcription	Right Atrium	heart
4	chr21:40287000-40305400	Weak transcription	Gastric	stomach
5	chr21:40287200-40297000	Weak transcription	Esophagus	oesophagus
6	chr21:40289400-40297200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr21:40290600-40297200	Weak transcription	Brain Hippocampus Middle	brain
8	chr21:40291600-40297400	Weak transcription	Psoas Muscle	Psoas
9	chr21:40292800-40297000	Weak transcription	Right Ventricle	heart
10	chr21:40292800-40297400	Weak transcription	Ovary	ovary
11	chr21:40293000-40297400	Weak transcription	Stomach Mucosa	stomach
12	chr21:40293200-40296800	Weak transcription	Fetal Lung	lung
13	chr21:40293200-40297200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr21:40293200-40297200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr21:40293200-40297200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr21:40293200-40297200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr21:40293200-40297200	Weak transcription	Left Ventricle	heart
18	chr21:40293200-40297200	Weak transcription	HSMMtube	muscle
19	chr21:40293400-40297200	Weak transcription	NH-A	brain
20	chr21:40293400-40297400	Weak transcription	HMEC	breast
21	chr21:40293400-40297600	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr21:40293600-40297200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr21:40293600-40297200	Weak transcription	Colonic Mucosa	Colon
24	chr21:40293600-40297200	Weak transcription	Osteobl	bone
25	chr21:40293600-40297400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr21:40293800-40297000	Weak transcription	Colon Smooth Muscle	Colon
27	chr21:40293800-40297000	Weak transcription	NHLF	lung
28	chr21:40293800-40297400	Weak transcription	Fetal Stomach	stomach
29	chr21:40294000-40297000	Weak transcription	Stomach Smooth Muscle	stomach
30	chr21:40294000-40297200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr21:40294000-40297200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr21:40294000-40297200	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr21:40294000-40297200	Weak transcription	NHEK	skin
34	chr21:40294200-40296800	Weak transcription	Rectal Smooth Muscle	rectum
35	chr21:40294200-40296800	Weak transcription	HSMM	muscle
36	chr21:40294200-40296800	Weak transcription	NHDF-Ad	bronchial
37	chr21:40294200-40298400	Weak transcription	Fetal Kidney	kidney
38	chr21:40294600-40297200	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr21:40295200-40298000	Enhancers	HepG2	liver
40	chr21:40295600-40297600	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr21:40295800-40297400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr21:40295800-40297400	Weak transcription	Hela-S3	cervix
43	chr21:40296000-40296800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr21:40296000-40297400	Weak transcription	Duodenum Mucosa	Duodenum
45	chr21:40296000-40297400	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr21:40296000-40297400	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr21:40296000-40297400	Weak transcription	Small Intestine	intestine
48	chr21:40296000-40298800	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr21:40296000-40301200	Enhancers	Fetal Thymus	thymus
50	chr21:40296200-40297200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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