Variant report

Variant	rs17004740
Chromosome Location	chr21:46543080-46543081
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46488526..46490205-chr21:46542349..46544446,2	MCF-7	breast:
2	chr21:46493097..46497182-chr21:46538705..46543454,4	MCF-7	breast:
3	chr21:46493588..46497852-chr21:46541349..46545442,5	K562	blood:
4	chr21:46486040..46487619-chr21:46542225..46544248,2	K562	blood:
5	chr21:46541198..46544422-chr21:46544789..46547564,3	K562	blood:
6	chr21:46497598..46499746-chr21:46541735..46543969,2	K562	blood:
7	chr21:46349800..46352372-chr21:46542489..46545433,2	MCF-7	breast:
8	chr21:46387326..46389294-chr21:46542023..46543987,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000197381	Chromatin interaction
ENSG00000273027	Chromatin interaction
ENSG00000235374	Chromatin interaction
ENSG00000160255	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11908769	1.00[AFR][1000 genomes]
rs11911694	1.00[AFR][1000 genomes]
rs17004732	0.89[AFR][1000 genomes]
rs17004746	1.00[AFR][1000 genomes]
rs2032253	0.89[AFR][1000 genomes]
rs2838775	0.89[AFR][1000 genomes]
rs2838777	0.89[AFR][1000 genomes]
rs2838779	0.89[AFR][1000 genomes]
rs2838780	0.89[AFR][1000 genomes]
rs2838784	0.89[AFR][1000 genomes]
rs2838785	0.89[AFR][1000 genomes]
rs2838798	0.89[AFR][1000 genomes]
rs3171490	0.89[AFR][1000 genomes]
rs73230667	0.89[AFR][1000 genomes]
rs73230670	0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv522002	chr21:46542670-46551702	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46516400-46549400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr21:46523000-46548200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr21:46526400-46549400	Weak transcription	Brain Substantia Nigra	brain
4	chr21:46529400-46549400	Weak transcription	Esophagus	oesophagus
5	chr21:46529800-46554800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr21:46530400-46548400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr21:46530400-46554600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr21:46530800-46554600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr21:46531400-46549600	Weak transcription	Duodenum Mucosa	Duodenum
10	chr21:46531800-46548200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr21:46531800-46548200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr21:46531800-46548600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr21:46532600-46545200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr21:46532600-46552400	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr21:46532600-46570600	Weak transcription	Dnd41	blood
16	chr21:46532800-46548400	Weak transcription	Osteobl	bone
17	chr21:46534800-46544200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr21:46534800-46545200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr21:46534800-46549600	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr21:46535000-46544400	Weak transcription	Fetal Stomach	stomach
21	chr21:46535000-46545200	Weak transcription	Psoas Muscle	Psoas
22	chr21:46535200-46543400	Weak transcription	Fetal Muscle Leg	muscle
23	chr21:46535400-46544800	Weak transcription	Spleen	Spleen
24	chr21:46535400-46545200	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr21:46536000-46549000	Weak transcription	HMEC	breast
26	chr21:46536200-46546400	Weak transcription	Right Ventricle	heart
27	chr21:46536600-46545200	Strong transcription	HSMM	muscle
28	chr21:46537200-46545200	Weak transcription	Left Ventricle	heart
29	chr21:46537400-46544600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr21:46537400-46544800	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr21:46537400-46548200	Weak transcription	HUVEC	blood vessel
32	chr21:46537400-46548200	Weak transcription	NHEK	skin
33	chr21:46537600-46548200	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr21:46538800-46552200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr21:46539000-46546400	Weak transcription	Fetal Intestine Small	intestine
36	chr21:46539600-46546800	Enhancers	Colon Smooth Muscle	Colon
37	chr21:46539800-46546400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr21:46540600-46546800	Weak transcription	Aorta	Aorta
39	chr21:46540600-46549400	Weak transcription	Gastric	stomach
40	chr21:46540800-46543400	Weak transcription	Fetal Muscle Trunk	muscle
41	chr21:46540800-46546600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr21:46541400-46545200	Weak transcription	Stomach Smooth Muscle	stomach
43	chr21:46541400-46548000	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr21:46541400-46548400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr21:46541600-46543800	Enhancers	Rectal Smooth Muscle	rectum
46	chr21:46541600-46544800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr21:46541600-46544800	Enhancers	Primary B cells from cord blood	blood
48	chr21:46541600-46548400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr21:46541600-46548400	Weak transcription	Adipose Nuclei	Adipose
50	chr21:46541600-46549000	Enhancers	Primary B cells from peripheral blood	blood

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