Variant report

Variant	rs9613864
Chromosome Location	chr22:29728854-29728855
allele	A/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	POLR2A	chr22:29728765-29728873	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
AP1B1	TF binding region

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs3747142	0.88[CEU][hapmap];0.91[EUR][1000 genomes]
rs3747146	0.94[CEU][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3761426	0.94[CEU][hapmap];0.88[CHB][hapmap];0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58595531	0.90[ASN][1000 genomes]
rs6006093	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs715589	0.94[CEU][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9613857	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9613860	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9613863	0.93[CEU][hapmap];0.98[AMR][1000 genomes];0.99[EUR][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	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv834171	chr22:29626402-29829844	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking 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 miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29707400-29740000	Weak transcription	Hela-S3	cervix
2	chr22:29711800-29733400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr22:29719400-29730600	Weak transcription	HepG2	liver
4	chr22:29719600-29730800	Weak transcription	HMEC	breast
5	chr22:29720600-29732200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr22:29720600-29740000	Weak transcription	Fetal Brain Male	brain
7	chr22:29721200-29732000	Weak transcription	K562	blood
8	chr22:29721400-29738200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr22:29721400-29746800	Strong transcription	Fetal Intestine Small	intestine
10	chr22:29721800-29734400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr22:29721800-29739600	Strong transcription	Colonic Mucosa	Colon
12	chr22:29721800-29756800	Strong transcription	Primary T cells from cord blood	blood
13	chr22:29722000-29732400	Strong transcription	Gastric	stomach
14	chr22:29722000-29732800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr22:29722000-29739200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr22:29722000-29739800	Strong transcription	Cortex derived primary cultured neurospheres	brain
17	chr22:29722000-29747000	Strong transcription	Duodenum Mucosa	Duodenum
18	chr22:29722000-29759200	Strong transcription	Dnd41	blood
19	chr22:29722000-29759800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr22:29722200-29730000	Strong transcription	Liver	Liver
21	chr22:29722200-29733000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr22:29722200-29737000	Strong transcription	Pancreas	Pancrea
23	chr22:29722200-29738000	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr22:29722200-29738000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr22:29722200-29739400	Strong transcription	Fetal Brain Female	brain
26	chr22:29722200-29741000	Strong transcription	Duodenum Smooth Muscle	Duodenum
27	chr22:29722200-29755800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr22:29722200-29756400	Strong transcription	Thymus	Thymus
29	chr22:29722200-29756600	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr22:29722200-29759800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr22:29722400-29729000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr22:29722400-29733000	Weak transcription	Stomach Mucosa	stomach
33	chr22:29722400-29735000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr22:29722400-29736600	Weak transcription	Fetal Heart	heart
35	chr22:29722400-29739400	Strong transcription	Brain Germinal Matrix	brain
36	chr22:29722400-29740400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr22:29722400-29740400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
38	chr22:29722400-29756800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr22:29722400-29758400	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr22:29722600-29729200	Strong transcription	GM12878-XiMat	blood
41	chr22:29722600-29729400	Strong transcription	Rectal Smooth Muscle	rectum
42	chr22:29722600-29732400	Strong transcription	Left Ventricle	heart
43	chr22:29722600-29738000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr22:29722600-29738400	Strong transcription	Aorta	Aorta
45	chr22:29722600-29739800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr22:29722600-29751200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr22:29722600-29753200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr22:29722600-29755400	Strong transcription	Sigmoid Colon	Sigmoid Colon
49	chr22:29722600-29756000	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr22:29722600-29757200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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