Variant report

Variant	rs11889903
Chromosome Location	chr2:233596003-233596004
allele	A/G
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	EP300	chr2:233595969-233596896	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000213055	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11884228	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11887276	0.89[AFR][1000 genomes]
rs11887724	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11892817	0.92[AFR][1000 genomes]
rs59017456	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59189052	0.92[AFR][1000 genomes]
rs60567011	0.92[AFR][1000 genomes]
rs61747707	1.00[AFR][1000 genomes];1.00[AMR][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	nsv948470	chr2:233166262-233886732	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1005123	chr2:233227729-233920152	Enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv536173	chr2:233227729-233920152	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233564200-233596400	Weak transcription	NHLF	lung
2	chr2:233564200-233613000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:233565000-233612200	Weak transcription	Fetal Brain Male	brain
4	chr2:233565200-233602000	Weak transcription	HUVEC	blood vessel
5	chr2:233565200-233606400	Weak transcription	Stomach Mucosa	stomach
6	chr2:233565600-233641000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr2:233566800-233612800	Weak transcription	Small Intestine	intestine
8	chr2:233568000-233604400	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr2:233569200-233615000	Weak transcription	Colonic Mucosa	Colon
10	chr2:233569400-233612800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr2:233569400-233615400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr2:233571200-233598200	Weak transcription	Fetal Kidney	kidney
13	chr2:233571200-233627400	Weak transcription	Gastric	stomach
14	chr2:233571400-233601800	Weak transcription	Esophagus	oesophagus
15	chr2:233571600-233612200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr2:233580000-233606000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr2:233580600-233604000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:233585200-233655000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr2:233585800-233604400	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr2:233585800-233626000	Weak transcription	Fetal Heart	heart
21	chr2:233586400-233603200	Strong transcription	Fetal Thymus	thymus
22	chr2:233586400-233612200	Weak transcription	Brain Substantia Nigra	brain
23	chr2:233586800-233599000	Weak transcription	K562	blood
24	chr2:233587000-233630600	Weak transcription	Psoas Muscle	Psoas
25	chr2:233587200-233596600	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr2:233587200-233604400	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr2:233587200-233613200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr2:233588400-233599600	Strong transcription	Primary T cells from cord blood	blood
29	chr2:233588600-233597000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr2:233588800-233596400	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr2:233588800-233597000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr2:233588800-233605000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:233589000-233597200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr2:233589000-233597600	Strong transcription	Primary B cells from peripheral blood	blood
35	chr2:233589000-233603600	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr2:233589000-233605800	Strong transcription	Liver	Liver
37	chr2:233589600-233619800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr2:233589600-233627000	Weak transcription	Pancreas	Pancrea
39	chr2:233590400-233599200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr2:233590400-233601600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr2:233590600-233599200	Weak transcription	NH-A	brain
42	chr2:233590600-233599400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr2:233590600-233599400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr2:233590800-233598000	Weak transcription	A549	lung
45	chr2:233590800-233601600	Weak transcription	Hela-S3	cervix
46	chr2:233591400-233596600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr2:233591800-233596400	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr2:233591800-233602600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr2:233592200-233596400	Strong transcription	Primary B cells from cord blood	blood
50	chr2:233592200-233597200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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