Variant report

Variant	rs342515
Chromosome Location	chr3:42574808-42574809
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	TEAD4	chr3:42574627-42575062	H1-hESC	embryonic stem cell:	n/a	n/a
2	TCF12	chr3:42574675-42575074	H1-hESC	embryonic stem cell:	n/a	n/a
3	TCF12	chr3:42574753-42574929	H1-hESC	embryonic stem cell:	n/a	n/a
4	TEAD4	chr3:42574673-42574963	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:42568483..42572153-chr3:42573252..42576729,4	K562	blood:

Variant related genes	Relation type
VIPR1-AS1	TF binding region
ENSG00000114812	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs41289576	1.00[ASN][1000 genomes]
rs55940287	1.00[ASN][1000 genomes]
rs6797853	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529987	chr3:41921995-42591771	Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1005533	chr3:41953873-42596375	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	esv1804804	chr3:42515186-42582403	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv1814102	chr3:42539966-42582403	Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1002944	chr3:42559762-42728909	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:42547600-42579000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr3:42552200-42581000	Weak transcription	Pancreas	Pancrea
3	chr3:42557800-42586000	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr3:42557800-42590400	Weak transcription	Aorta	Aorta
5	chr3:42558000-42585200	Weak transcription	Brain Hippocampus Middle	brain
6	chr3:42561000-42581000	Weak transcription	Gastric	stomach
7	chr3:42562400-42586800	Weak transcription	Small Intestine	intestine
8	chr3:42563600-42575000	Strong transcription	Rectal Mucosa Donor 31	rectum
9	chr3:42564000-42577400	Strong transcription	Rectal Mucosa Donor 29	rectum
10	chr3:42565200-42576400	Enhancers	Spleen	Spleen
11	chr3:42567600-42580200	Strong transcription	Fetal Intestine Small	intestine
12	chr3:42567800-42577200	Strong transcription	Fetal Intestine Large	intestine
13	chr3:42570000-42580800	Weak transcription	Colonic Mucosa	Colon
14	chr3:42571200-42581200	Weak transcription	Right Atrium	heart
15	chr3:42571600-42576600	Strong transcription	Sigmoid Colon	Sigmoid Colon
16	chr3:42571800-42576200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr3:42571800-42581600	Weak transcription	Liver	Liver
18	chr3:42571800-42586200	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr3:42572000-42575800	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr3:42572000-42576400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr3:42572200-42575600	Genic enhancers	Lung	lung
22	chr3:42572200-42576000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
23	chr3:42572400-42576200	Genic enhancers	Primary T cells from cord blood	blood
24	chr3:42572600-42575000	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr3:42572600-42578600	Genic enhancers	Monocytes-CD14+_RO01746	blood
26	chr3:42572800-42575600	Enhancers	Primary T cells fromperipheralblood	blood
27	chr3:42572800-42576200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr3:42572800-42581000	Weak transcription	Right Ventricle	heart
29	chr3:42573000-42575200	Genic enhancers	Primary monocytes fromperipheralblood	blood
30	chr3:42573000-42576400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
31	chr3:42573400-42575400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr3:42573400-42576200	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr3:42573800-42575200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr3:42573800-42580800	Weak transcription	Stomach Mucosa	stomach
35	chr3:42574000-42575600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr3:42574000-42575600	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr3:42574200-42575200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr3:42574200-42575200	Enhancers	Placenta Amnion	Placenta Amnion
39	chr3:42574200-42575400	Enhancers	H9 Cell Line	embryonic stem cell
40	chr3:42574200-42575400	Enhancers	HMEC	breast
41	chr3:42574200-42575800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr3:42574200-42575800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr3:42574200-42578200	Weak transcription	Adipose Nuclei	Adipose
44	chr3:42574400-42575000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr3:42574400-42575200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
46	chr3:42574400-42575200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr3:42574400-42575200	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr3:42574400-42575400	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr3:42574400-42575600	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr3:42574400-42575600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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