Variant report

Variant	rs2288353
Chromosome Location	chr2:145187783-145187784
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	POLR2A	chr2:145180413-145188782	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:145186231..145188359-chr2:145273055..145275396,2	K562	blood:

Variant related genes	Relation type
ZEB2	TF binding region
ENSG00000169554	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs6721820	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532755	chr2:144631279-145270874	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1006344	chr2:144657716-145334899	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv535951	chr2:144657716-145334899	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1067624	chr2:144657717-145425705	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv531413	chr2:144657717-145425705	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv532756	chr2:144746353-145315596	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv1008032	chr2:144840552-145234229	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
8	nsv997624	chr2:144906679-145294503	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
9	nsv535952	chr2:144906679-145294503	Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
10	nsv532757	chr2:144922143-145263446	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
11	nsv916172	chr2:144970681-145425713	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
12	nsv948474	chr2:145035890-145436665	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
13	nsv535953	chr2:145099512-145336083	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
14	nsv535954	chr2:145128008-145311097	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
15	nsv535955	chr2:145143961-145298714	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
16	nsv535956	chr2:145178224-145311097	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
17	nsv1002563	chr2:145182201-145863253	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
18	nsv535957	chr2:145182201-145863253	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145140800-145189800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr2:145157600-145192000	Weak transcription	Spleen	Spleen
3	chr2:145157800-145206200	Weak transcription	Lung	lung
4	chr2:145159000-145193800	Weak transcription	Dnd41	blood
5	chr2:145161800-145188400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:145162600-145188000	Weak transcription	Right Atrium	heart
7	chr2:145162600-145206600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:145179000-145210200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr2:145181600-145189600	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr2:145182200-145190800	Genic enhancers	Primary monocytes fromperipheralblood	blood
11	chr2:145182800-145188200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr2:145183000-145188000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr2:145183000-145188400	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr2:145183000-145194600	Weak transcription	Hela-S3	cervix
15	chr2:145184000-145187800	Genic enhancers	Fetal Lung	lung
16	chr2:145184400-145188800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr2:145184600-145188200	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr2:145184600-145188600	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr2:145184600-145193200	Genic enhancers	Monocytes-CD14+_RO01746	blood
20	chr2:145184800-145188800	Weak transcription	Rectal Smooth Muscle	rectum
21	chr2:145185000-145187800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:145185000-145188000	Weak transcription	Colon Smooth Muscle	Colon
23	chr2:145185000-145188200	Weak transcription	Pancreas	Pancrea
24	chr2:145185000-145188400	Weak transcription	Duodenum Mucosa	Duodenum
25	chr2:145185000-145188400	Weak transcription	Ovary	ovary
26	chr2:145185000-145196000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr2:145185200-145188000	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr2:145185200-145188000	Weak transcription	Right Ventricle	heart
29	chr2:145185200-145188400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr2:145185400-145188200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr2:145185600-145188600	Weak transcription	NH-A	brain
32	chr2:145185600-145203000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr2:145185800-145187800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr2:145185800-145188000	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr2:145185800-145188800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr2:145186000-145187800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr2:145186000-145187800	Genic enhancers	NHLF	lung
38	chr2:145186000-145188200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr2:145186400-145187800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr2:145186400-145189600	Weak transcription	Colonic Mucosa	Colon
41	chr2:145186800-145188200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr2:145187000-145188000	Weak transcription	Fetal Brain Female	brain
43	chr2:145187200-145187800	Enhancers	Psoas Muscle	Psoas
44	chr2:145187200-145188000	Enhancers	Aorta	Aorta
45	chr2:145187200-145188600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr2:145187200-145190400	Genic enhancers	K562	blood
47	chr2:145187400-145187800	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr2:145187400-145187800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr2:145187400-145188200	Enhancers	Brain Substantia Nigra	brain
50	chr2:145187400-145188200	Weak transcription	Fetal Stomach	stomach

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