Variant report

Variant	rs17021372
Chromosome Location	chr3:28371077-28371078
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:28360241-28371279	K562	blood:	n/a	n/a
2	POLR2A	chr3:28370668-28371092	GM12878	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:44313149..44313696-chr3:28370708..28371572,2	NB4	blood:
2	chr3:28326930..28329184-chr3:28369613..28371259,2	K562	blood:
3	chr3:28281693..28284487-chr3:28370587..28372880,2	K562	blood:
4	chr3:28370043..28372109-chr3:28386223..28389083,2	MCF-7	breast:
5	chr3:28370176..28372872-chr3:28373857..28375722,2	MCF-7	breast:
6	chr3:28370239..28373025-chr3:28374820..28376811,3	K562	blood:

No data

Variant related genes	Relation type
AZI2	TF binding region
ENSG00000187118	Chromatin interaction
ENSG00000163512	Chromatin interaction
ENSG00000160194	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs17021351	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17021353	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17021360	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17021368	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17021371	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17021374	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17029779	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7639746	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7643610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7651491	1.00[AMR][1000 genomes]

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	esv3328565	chr3:27991169-28915035	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv876649	chr3:28126595-28718454	Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:28317600-28380000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr3:28317600-28389400	Weak transcription	Esophagus	oesophagus
3	chr3:28343800-28383800	Weak transcription	Aorta	Aorta
4	chr3:28349800-28389400	Weak transcription	Gastric	stomach
5	chr3:28350000-28376800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr3:28356800-28376800	Weak transcription	Ovary	ovary
7	chr3:28358600-28386400	Weak transcription	Thymus	Thymus
8	chr3:28358800-28389000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr3:28359600-28377200	Weak transcription	Brain Anterior Caudate	brain
10	chr3:28360400-28383800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr3:28360400-28387400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr3:28361600-28382200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr3:28362800-28382400	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr3:28362800-28387800	Weak transcription	HUVEC	blood vessel
15	chr3:28363200-28377200	Weak transcription	Fetal Kidney	kidney
16	chr3:28363600-28389000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr3:28363800-28380000	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr3:28363800-28389600	Weak transcription	Spleen	Spleen
19	chr3:28364000-28388400	Weak transcription	Fetal Brain Female	brain
20	chr3:28364200-28376800	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr3:28364400-28373200	Weak transcription	Brain Germinal Matrix	brain
22	chr3:28364800-28377000	Weak transcription	Brain Substantia Nigra	brain
23	chr3:28364800-28382400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr3:28365400-28383800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr3:28365400-28389400	Weak transcription	Lung	lung
26	chr3:28366000-28388600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr3:28366200-28376800	Weak transcription	Brain Hippocampus Middle	brain
28	chr3:28366200-28378000	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr3:28366200-28389400	Weak transcription	Colonic Mucosa	Colon
30	chr3:28366400-28389200	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr3:28366800-28379000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr3:28367000-28376800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr3:28367000-28376800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr3:28367000-28384200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr3:28367000-28388800	Weak transcription	Brain Angular Gyrus	brain
36	chr3:28367000-28389000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr3:28367200-28376800	Weak transcription	Fetal Muscle Leg	muscle
38	chr3:28367200-28377000	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr3:28367200-28379000	Weak transcription	HSMMtube	muscle
40	chr3:28367200-28384000	Weak transcription	Fetal Heart	heart
41	chr3:28367200-28387800	Weak transcription	Fetal Brain Male	brain
42	chr3:28367200-28388800	Weak transcription	Brain Cingulate Gyrus	brain
43	chr3:28367200-28389400	Weak transcription	Pancreas	Pancrea
44	chr3:28367400-28376800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr3:28367400-28388800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr3:28367600-28372800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr3:28367600-28377000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr3:28368000-28373600	Weak transcription	Liver	Liver
49	chr3:28368200-28376600	Weak transcription	Stomach Smooth Muscle	stomach
50	chr3:28368200-28377000	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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