Variant report

Variant	rs17004742
Chromosome Location	chr21:46555331-46555332
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:46492190..46501097-chr21:46553481..46562048,38	K562	blood:
2	chr21:46554334..46556297-chr21:46558986..46561697,3	K562	blood:
3	chr21:46546584..46551511-chr21:46553581..46558677,4	K562	blood:
4	chr21:46492248..46501057-chr21:46545477..46562980,48	K562	blood:
5	chr21:46548264..46550888-chr21:46555243..46558018,2	MCF-7	breast:
6	chr21:46554988..46557128-chr21:46559277..46561746,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000235374	Chromatin interaction
ENSG00000197381	Chromatin interaction
ENSG00000268856	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs387097	0.80[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv531546	chr21:46504151-47411772	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46532600-46570600	Weak transcription	Dnd41	blood
2	chr21:46544200-46558200	Weak transcription	HepG2	liver
3	chr21:46544200-46560400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr21:46548600-46571600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr21:46548800-46558400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr21:46549800-46557200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr21:46549800-46559400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr21:46549800-46567600	Weak transcription	Gastric	stomach
9	chr21:46550000-46555800	Weak transcription	Aorta	Aorta
10	chr21:46550000-46567800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr21:46550400-46571200	Weak transcription	Brain Germinal Matrix	brain
12	chr21:46550800-46563600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr21:46551000-46556400	Weak transcription	K562	blood
14	chr21:46551000-46562400	Weak transcription	HMEC	breast
15	chr21:46551200-46557000	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr21:46551200-46557000	Strong transcription	Hela-S3	cervix
17	chr21:46551200-46557400	Weak transcription	Fetal Intestine Large	intestine
18	chr21:46551400-46567400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr21:46551600-46557200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr21:46551600-46557400	Weak transcription	Colonic Mucosa	Colon
21	chr21:46551600-46562400	Weak transcription	Brain Angular Gyrus	brain
22	chr21:46551600-46562600	Genic enhancers	HSMM	muscle
23	chr21:46551800-46556800	Weak transcription	Rectal Smooth Muscle	rectum
24	chr21:46551800-46565400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr21:46553200-46555400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr21:46553200-46555400	Enhancers	HSMMtube	muscle
27	chr21:46553200-46555600	Strong transcription	Stomach Smooth Muscle	stomach
28	chr21:46553400-46555600	Weak transcription	NH-A	brain
29	chr21:46553400-46556000	Weak transcription	Osteobl	bone
30	chr21:46553400-46556400	Weak transcription	NHLF	lung
31	chr21:46553400-46557200	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr21:46553400-46558600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr21:46553400-46561600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr21:46553400-46568600	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr21:46553400-46570600	Weak transcription	Esophagus	oesophagus
36	chr21:46553400-46574600	Weak transcription	Fetal Heart	heart
37	chr21:46553600-46555800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr21:46553600-46556200	Weak transcription	NHDF-Ad	bronchial
39	chr21:46553600-46556800	Weak transcription	HUVEC	blood vessel
40	chr21:46553600-46557200	Weak transcription	Brain Anterior Caudate	brain
41	chr21:46553600-46558800	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr21:46553600-46562600	Weak transcription	Placenta	Placenta
43	chr21:46553600-46563000	Weak transcription	Lung	lung
44	chr21:46553800-46561800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr21:46554200-46557000	Enhancers	Psoas Muscle	Psoas
46	chr21:46554200-46557400	Genic enhancers	Fetal Muscle Trunk	muscle
47	chr21:46554400-46556200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr21:46554400-46557600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr21:46554600-46555400	Strong transcription	NHEK	skin
50	chr21:46554600-46555800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--

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