Variant report

Variant	rs7254098
Chromosome Location	chr19:21771125-21771126
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	MAX	chr19:21770922-21771281	H1-hESC	embryonic stem cell:	n/a	chr19:21770998-21771005 chr19:21771029-21771040 chr19:21771030-21771040 chr19:21771030-21771039 chr19:21771103-21771112 chr19:21771029-21771040 chr19:21770997-21771007
2	POLR2A	chr19:21769002-21771379	PBDE	blood:	n/a	n/a
3	MAX	chr19:21770865-21771208	A549	lung:	n/a	chr19:21770998-21771005 chr19:21771029-21771040 chr19:21771103-21771112 chr19:21771030-21771040 chr19:21771030-21771039 chr19:21771029-21771040 chr19:21770997-21771007
4	MAX	chr19:21770859-21771214	K562	blood:	n/a	chr19:21770998-21771005 chr19:21771029-21771040 chr19:21771030-21771040 chr19:21771030-21771039 chr19:21771103-21771112 chr19:21771029-21771040 chr19:21770997-21771007

Variant related genes	Relation type
ENSG00000268555	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10410762	0.82[YRI][hapmap]
rs12972096	0.83[YRI][hapmap]
rs1566475	1.00[YRI][hapmap]
rs2359146	1.00[YRI][hapmap]
rs2650755	1.00[YRI][hapmap]
rs2650846	1.00[YRI][hapmap]
rs2914632	1.00[YRI][hapmap]
rs4808280	1.00[YRI][hapmap]
rs4809136	0.85[YRI][hapmap]
rs4809142	0.95[AFR][1000 genomes]
rs7251773	0.90[AFR][1000 genomes]
rs939300	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3414204	chr19:21301761-21839451	ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	esv3325271	chr19:21445407-21792817	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv578952	chr19:21535707-21868584	Genic enhancers Active TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv833782	chr19:21663537-21845722	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv1059328	chr19:21691123-21775948	Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1056332	chr19:21746555-21807647	ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv543947	chr19:21749857-21772586	Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
8	nsv911422	chr19:21752009-21973929	ZNF genes & repeats Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv543948	chr19:21763457-21775948	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
10	nsv960938	chr19:21766627-21785276	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21769400-21771200	Active TSS	Colonic Mucosa	Colon
2	chr19:21769400-21771200	Transcr. at gene 5' and 3'	Dnd41	blood
3	chr19:21769600-21771400	ZNF genes & repeats	Lung	lung
4	chr19:21770000-21786600	Weak transcription	Primary T cells from cord blood	blood
5	chr19:21770200-21771200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
6	chr19:21770200-21773200	Weak transcription	Placenta	Placenta
7	chr19:21770200-21786600	Weak transcription	Right Ventricle	heart
8	chr19:21770400-21771200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr19:21770400-21771200	Flanking Active TSS	Pancreas	Pancrea
10	chr19:21770400-21773600	Weak transcription	Adipose Nuclei	Adipose
11	chr19:21770600-21771200	Enhancers	Duodenum Mucosa	Duodenum
12	chr19:21770600-21771200	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr19:21770600-21771400	Enhancers	Fetal Intestine Large	intestine
14	chr19:21770600-21772000	Weak transcription	Ovary	ovary
15	chr19:21770600-21772400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr19:21770600-21773400	Weak transcription	Fetal Heart	heart
17	chr19:21770800-21771200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr19:21770800-21771200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr19:21770800-21771400	Enhancers	Fetal Intestine Small	intestine
20	chr19:21771000-21771200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr19:21771000-21771200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr19:21771000-21771200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
23	chr19:21771000-21771200	ZNF genes & repeats	Gastric	stomach
24	chr19:21771000-21771200	Enhancers	Rectal Mucosa Donor 29	rectum
25	chr19:21771000-21776400	Weak transcription	Primary hematopoietic stem cells	blood
26	chr19:21771000-21786200	Weak transcription	Stomach Smooth Muscle	stomach

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