Variant report

Variant	rs9821222
Chromosome Location	chr3:81797043-81797044
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PAX5	chr3:81796992-81797392	GM12878	blood:	n/a	n/a
2	PAX5	chr3:81797026-81797309	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:81789819..81797196-chr3:81807650..81813820,9	K562	blood:
2	chr3:81791291..81795943-chr3:81796058..81798564,4	K562	blood:

Variant related genes	Relation type
GBE1	TF binding region
ENSG00000114480	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs13314900	0.81[EUR][1000 genomes]
rs1851922	0.81[EUR][1000 genomes]
rs1973802	0.82[EUR][1000 genomes]
rs2680276	0.89[EUR][1000 genomes]
rs28553548	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28630448	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28637864	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3772886	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3849573	0.81[AMR][1000 genomes]
rs57555994	0.85[EUR][1000 genomes]
rs59419728	0.85[EUR][1000 genomes]
rs62267088	0.86[AMR][1000 genomes]
rs62267115	0.88[EUR][1000 genomes]
rs62267150	0.80[EUR][1000 genomes]
rs6768673	0.81[EUR][1000 genomes]
rs6776410	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6791629	0.82[EUR][1000 genomes]
rs6804697	0.85[EUR][1000 genomes]
rs7623056	0.83[AMR][1000 genomes]
rs7634830	0.85[EUR][1000 genomes]
rs9813371	0.80[EUR][1000 genomes]
rs9816946	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9820490	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9831301	0.80[EUR][1000 genomes]
rs9831360	0.85[EUR][1000 genomes]
rs9851559	0.80[EUR][1000 genomes]
rs9863322	0.88[EUR][1000 genomes]
rs9874754	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012133	chr3:81499082-81817471	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv949545	chr3:81523898-81893929	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv1009607	chr3:81651419-81825151	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv536604	chr3:81651419-81825151	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv834749	chr3:81655377-81818880	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv999992	chr3:81693662-82015969	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv536605	chr3:81693662-82015969	Flanking Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:81776000-81807400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:81781000-81809400	Weak transcription	Primary B cells from peripheral blood	blood
3	chr3:81782200-81800400	Weak transcription	Primary B cells from cord blood	blood
4	chr3:81782400-81800200	Weak transcription	Left Ventricle	heart
5	chr3:81791200-81808800	Weak transcription	Primary T cells from cord blood	blood
6	chr3:81791600-81803400	Weak transcription	Brain Hippocampus Middle	brain
7	chr3:81792000-81810200	Weak transcription	Spleen	Spleen
8	chr3:81792800-81802800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr3:81793000-81802800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr3:81793000-81809600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr3:81793200-81798400	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr3:81793200-81803800	Weak transcription	Aorta	Aorta
13	chr3:81793200-81809200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr3:81793400-81797400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr3:81793400-81798600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr3:81793400-81801600	Weak transcription	Fetal Intestine Small	intestine
17	chr3:81793400-81803600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr3:81793800-81797800	Weak transcription	Gastric	stomach
19	chr3:81793800-81800200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr3:81793800-81802600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr3:81793800-81808600	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr3:81793800-81809200	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr3:81793800-81810000	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr3:81794000-81798800	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr3:81794000-81802800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr3:81794000-81807000	Weak transcription	Primary hematopoietic stem cells	blood
27	chr3:81794200-81800200	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr3:81794200-81803600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr3:81794400-81798400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr3:81794400-81798400	Weak transcription	Fetal Heart	heart
31	chr3:81794400-81798600	Weak transcription	HepG2	liver
32	chr3:81794400-81800600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr3:81794400-81808600	Weak transcription	K562	blood
34	chr3:81794600-81798200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr3:81794600-81798400	Weak transcription	NH-A	brain
36	chr3:81794600-81798600	Weak transcription	Hela-S3	cervix
37	chr3:81794800-81798200	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr3:81794800-81798600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr3:81794800-81800200	Weak transcription	Liver	Liver
40	chr3:81794800-81807200	Weak transcription	HMEC	breast
41	chr3:81795400-81798400	Weak transcription	HUVEC	blood vessel
42	chr3:81795400-81799200	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr3:81795600-81797400	Weak transcription	Ovary	ovary
44	chr3:81795600-81798200	Weak transcription	NHLF	lung
45	chr3:81795600-81800000	Weak transcription	Psoas Muscle	Psoas
46	chr3:81795600-81800200	Weak transcription	Right Ventricle	heart
47	chr3:81795600-81800400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr3:81795600-81810000	Weak transcription	Lung	lung
49	chr3:81795800-81798600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr3:81796000-81797400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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