Variant report

Variant	rs401139
Chromosome Location	chr8:60029321-60029322
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	POLR2A	chr8:60026013-60032839	GM12892	blood:	n/a	n/a
2	GATA3	chr8:60029150-60029342	SH-SY5Y	brain:	n/a	n/a
3	POLR2A	chr8:60027352-60029333	GM12892	blood:	n/a	n/a
4	POLR2A	chr8:60027397-60029412	GM12892	blood:	n/a	n/a
5	MXI1	chr8:60027222-60033187	SK-N-SH	brain:	n/a	chr8:60030980-60030995

No.	Distal block	Cell Line	Cell type
1	chr8:60026628..60030017-chr8:60030478..60033061,3	K562	blood:
2	chr8:60026625..60030017-chr8:60031561..60034526,3	K562	blood:
3	chr8:60022747..60025488-chr8:60027934..60030642,2	K562	blood:

Variant related genes	Relation type
ENSG00000167912	TF binding region
ENSG00000198846	Chromatin interaction
ENSG00000167912	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs3110137	1.00[ASN][1000 genomes]
rs3110138	1.00[ASN][1000 genomes]
rs3110140	0.98[ASN][1000 genomes]
rs3110142	0.81[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs3110145	0.81[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs3110147	0.96[ASN][1000 genomes]
rs3110149	0.82[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs3110153	0.91[ASN][1000 genomes]
rs3122647	0.97[ASN][1000 genomes]
rs3122648	0.98[ASN][1000 genomes]
rs3122651	1.00[ASN][1000 genomes]
rs379771	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs392450	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs407261	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs426824	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs449224	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62504556	0.88[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831327	chr8:60008412-60159152	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:60009800-60029800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:60017000-60030000	Weak transcription	Gastric	stomach
3	chr8:60020600-60029400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr8:60021200-60029600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr8:60024000-60029800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr8:60024200-60029600	Weak transcription	Fetal Kidney	kidney
7	chr8:60026200-60029800	Weak transcription	Spleen	Spleen
8	chr8:60026400-60029600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr8:60027400-60029400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr8:60027400-60031000	Active TSS	Stomach Smooth Muscle	stomach
11	chr8:60027600-60029600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr8:60027600-60029600	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr8:60027600-60032600	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr8:60027600-60033200	Active TSS	Brain Angular Gyrus	brain
15	chr8:60027600-60033200	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr8:60027800-60032600	Active TSS	Fetal Thymus	thymus
17	chr8:60027800-60032800	Active TSS	Fetal Brain Male	brain
18	chr8:60028000-60029600	Active TSS	Primary T helper cells PMA-I stimulated	--
19	chr8:60028000-60032400	Active TSS	Duodenum Mucosa	Duodenum
20	chr8:60028000-60033000	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr8:60028200-60029600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr8:60028200-60029600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr8:60028200-60029800	Flanking Active TSS	Primary T cells from cord blood	blood
24	chr8:60028200-60029800	Active TSS	Primary T cells fromperipheralblood	blood
25	chr8:60028200-60029800	Active TSS	Brain Inferior Temporal Lobe	brain
26	chr8:60028200-60029800	Active TSS	Fetal Intestine Small	intestine
27	chr8:60028200-60030200	Flanking Active TSS	HUVEC	blood vessel
28	chr8:60028200-60032600	Active TSS	Colon Smooth Muscle	Colon
29	chr8:60028400-60029600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr8:60028400-60029600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr8:60028400-60029800	Active TSS	Fetal Brain Female	brain
32	chr8:60028400-60030000	Enhancers	Fetal Heart	heart
33	chr8:60028400-60030200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
34	chr8:60028400-60030200	Active TSS	Fetal Stomach	stomach
35	chr8:60028400-60032600	Active TSS	Rectal Smooth Muscle	rectum
36	chr8:60028400-60033000	Active TSS	Rectal Mucosa Donor 31	rectum
37	chr8:60028400-60033000	Active TSS	NH-A	brain
38	chr8:60028600-60029400	Flanking Active TSS	Dnd41	blood
39	chr8:60028600-60029600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr8:60028600-60029600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr8:60028600-60029800	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr8:60028600-60030400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr8:60028600-60032800	Active TSS	Thymus	Thymus
44	chr8:60028800-60029400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
45	chr8:60028800-60029400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
46	chr8:60028800-60029400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
47	chr8:60028800-60029400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr8:60028800-60029600	Enhancers	Primary B cells from peripheral blood	blood
49	chr8:60028800-60029800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
50	chr8:60029000-60029400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell

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