Variant report

Variant	rs2304806
Chromosome Location	chr3:100105506-100105507
allele	C/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	MAFK	chr3:100105321-100105636	IMR90	lung:	n/a	chr3:100105462-100105478 chr3:100105462-100105477 chr3:100105465-100105479 chr3:100105467-100105478 chr3:100105467-100105478
2	MYBL2	chr3:100105220-100105979	HepG2	liver:	n/a	n/a
3	FOXA1	chr3:100105324-100106100	HepG2	liver:	n/a	chr3:100105596-100105608
4	TEAD4	chr3:100105387-100105985	HepG2	liver:	n/a	n/a
5	TCF7L2	chr3:100104881-100105791	HepG2	liver:	n/a	n/a
6	EP300	chr3:100105501-100105880	HepG2	liver:	n/a	chr3:100105614-100105628
7	MAFK	chr3:100105335-100105860	HepG2	liver:	n/a	chr3:100105462-100105478 chr3:100105462-100105477 chr3:100105465-100105479 chr3:100105467-100105478 chr3:100105467-100105478
8	NR2F2	chr3:100105355-100106006	HepG2	liver:	n/a	n/a
9	FOXA1	chr3:100105408-100105828	A549	lung:	n/a	chr3:100105596-100105608
10	NR2F2	chr3:100105410-100106026	HepG2	liver:	n/a	n/a
11	MAFK	chr3:100105302-100105663	HepG2	liver:	n/a	chr3:100105462-100105478 chr3:100105462-100105477 chr3:100105465-100105479 chr3:100105467-100105478 chr3:100105467-100105478
12	FOXA2	chr3:100105458-100105987	HepG2	liver:	n/a	chr3:100105596-100105608
13	EP300	chr3:100105347-100105866	HepG2	liver:	n/a	chr3:100105496-100105510 chr3:100105614-100105628
14	MAFK	chr3:100105354-100105587	Hela-S3	cervix:	n/a	chr3:100105462-100105478 chr3:100105462-100105477 chr3:100105465-100105479 chr3:100105467-100105478 chr3:100105467-100105478
15	MBD4	chr3:100105464-100105948	HepG2	liver:	n/a	n/a
16	MAFF	chr3:100105331-100105803	HepG2	liver:	n/a	chr3:100105461-100105479
17	SP1	chr3:100105437-100105901	HepG2	liver:	n/a	n/a
18	MAFF	chr3:100105477-100105652	K562	blood:	n/a	n/a
19	FOXA1	chr3:100105423-100105843	HepG2	liver:	n/a	chr3:100105596-100105608
20	FOXA1	chr3:100105260-100106103	HepG2	liver:	n/a	chr3:100105596-100105608
21	NFIC	chr3:100105252-100106007	HepG2	liver:	n/a	n/a
22	FOXA1	chr3:100105405-100105887	HepG2	liver:	n/a	chr3:100105596-100105608
23	FOXA2	chr3:100104773-100106140	HepG2	liver:	n/a	chr3:100105596-100105608
24	ARID3A	chr3:100105306-100105994	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:100102691..100105563-chr3:100122980..100125104,2	MCF-7	breast:
2	chr3:100097916..100106101-chr3:100115627..100122137,10	K562	blood:
3	chr3:100102836..100105510-chr3:100118455..100121346,2	K562	blood:
4	chr3:100104411..100107248-chr3:100108549..100110661,2	MCF-7	breast:
5	chr3:100099778..100102501-chr3:100103098..100105700,3	K562	blood:

Variant related genes	Relation type
TOMM70A	TF binding region
ENSG00000206535	Chromatin interaction
ENSG00000154174	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12233590	1.00[EUR][1000 genomes]
rs2289508	0.85[CHB][hapmap];0.82[CHD][hapmap]
rs3772699	1.00[EUR][1000 genomes]
rs413801	1.00[CEU][hapmap]
rs7433331	0.85[CHB][hapmap]
rs9833995	1.00[CEU][hapmap];1.00[LWK][hapmap];1.00[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916476	chr3:99478229-100124625	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv1003924	chr3:99933762-100112690	Strong transcription Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 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	chr3:100071400-100105800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr3:100077000-100106000	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr3:100077200-100105600	Strong transcription	Duodenum Mucosa	Duodenum
4	chr3:100079400-100107600	Strong transcription	Dnd41	blood
5	chr3:100079600-100106200	Strong transcription	Primary B cells from peripheral blood	blood
6	chr3:100079800-100106200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr3:100080200-100106200	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr3:100080600-100105800	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr3:100081000-100106000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr3:100081200-100106000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr3:100081200-100106200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr3:100081200-100107000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr3:100081200-100107000	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr3:100081200-100107800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr3:100081400-100106200	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr3:100081800-100106200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr3:100082200-100107200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr3:100082400-100105800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr3:100083000-100106000	Strong transcription	Primary T helper cells PMA-I stimulated	--
20	chr3:100084800-100105600	Weak transcription	Fetal Heart	heart
21	chr3:100087600-100114600	Weak transcription	Small Intestine	intestine
22	chr3:100089000-100105800	Strong transcription	Rectal Mucosa Donor 31	rectum
23	chr3:100089000-100106000	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr3:100089000-100106000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr3:100089200-100107200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr3:100090000-100105800	Strong transcription	Primary hematopoietic stem cells	blood
27	chr3:100090200-100118400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr3:100091600-100117600	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr3:100093200-100106400	Strong transcription	GM12878-XiMat	blood
30	chr3:100093600-100105800	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr3:100094000-100106000	Weak transcription	Ovary	ovary
32	chr3:100094400-100106000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr3:100095600-100105800	Strong transcription	HMEC	breast
34	chr3:100096000-100105800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr3:100096800-100109800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr3:100096800-100112800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr3:100098400-100106000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr3:100098600-100106200	Strong transcription	Primary B cells from cord blood	blood
39	chr3:100099000-100106000	Weak transcription	Gastric	stomach
40	chr3:100099000-100106000	Weak transcription	Lung	lung
41	chr3:100099000-100110200	Weak transcription	Spleen	Spleen
42	chr3:100099000-100118600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr3:100099200-100106000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr3:100099200-100106000	Weak transcription	Fetal Intestine Small	intestine
45	chr3:100099200-100108600	Weak transcription	Fetal Stomach	stomach
46	chr3:100099800-100117600	Weak transcription	Colonic Mucosa	Colon
47	chr3:100100400-100107200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr3:100100800-100108000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr3:100100800-100110800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr3:100102800-100118200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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