Variant report

Variant	rs407261
Chromosome Location	chr8:60027392-60027393
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	NFIC	chr8:60027322-60028667	GM12878	blood:	n/a	n/a
2	POLR2A	chr8:60026013-60032839	GM12892	blood:	n/a	n/a
3	RUNX3	chr8:60027379-60028579	GM12878	blood:	n/a	n/a
4	POLR2A	chr8:60027352-60029333	GM12892	blood:	n/a	n/a
5	GATA3	chr8:60027383-60027489	SH-SY5Y	brain:	n/a	n/a
6	MXI1	chr8:60027222-60033187	SK-N-SH	brain:	n/a	chr8:60030980-60030995

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:60026628..60030017-chr8:60030478..60033061,3	K562	blood:
2	chr8:60026625..60030017-chr8:60031561..60034526,3	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	0.84[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs3110142	0.98[ASN][1000 genomes]
rs3110145	0.98[ASN][1000 genomes]
rs3110147	0.96[ASN][1000 genomes]
rs3110149	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	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs392450	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs401139	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs426824	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs449224	0.92[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:58 , 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	chr8:60021000-60027600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr8:60021200-60028200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr8:60021200-60028800	Weak transcription	Primary B cells from peripheral blood	blood
7	chr8:60021200-60029000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr8:60021200-60029600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr8:60021400-60028200	Weak transcription	NH-A	brain
10	chr8:60021600-60027600	Weak transcription	Brain Angular Gyrus	brain
11	chr8:60021600-60027800	Weak transcription	Fetal Heart	heart
12	chr8:60023400-60027600	Weak transcription	Brain Germinal Matrix	brain
13	chr8:60023600-60028200	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr8:60023600-60028800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr8:60024000-60027400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr8:60024000-60027400	Weak transcription	Osteobl	bone
17	chr8:60024000-60027600	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr8:60024000-60027600	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr8:60024000-60028200	Weak transcription	Primary hematopoietic stem cells	blood
20	chr8:60024000-60029800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr8:60024200-60027400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:60024200-60027800	Weak transcription	Fetal Stomach	stomach
23	chr8:60024200-60029600	Weak transcription	Fetal Kidney	kidney
24	chr8:60024400-60027400	Weak transcription	Duodenum Mucosa	Duodenum
25	chr8:60024400-60027600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr8:60024400-60027600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr8:60024400-60028000	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr8:60024400-60028200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr8:60025400-60028800	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr8:60025600-60027800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr8:60025600-60027800	Enhancers	Fetal Brain Male	brain
32	chr8:60025800-60027400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr8:60025800-60027600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr8:60025800-60027600	Enhancers	Colon Smooth Muscle	Colon
35	chr8:60025800-60027800	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr8:60026000-60028200	Enhancers	Primary T cells from cord blood	blood
37	chr8:60026200-60029800	Weak transcription	Spleen	Spleen
38	chr8:60026400-60027600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr8:60026400-60028200	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr8:60026400-60028200	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr8:60026400-60028200	Weak transcription	Brain Anterior Caudate	brain
42	chr8:60026400-60028200	Weak transcription	Small Intestine	intestine
43	chr8:60026400-60028400	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr8:60026400-60029600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr8:60026600-60027400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr8:60026600-60027600	Enhancers	Pancreatic Islets	Pancreatic Islet
47	chr8:60026600-60027600	Weak transcription	Fetal Thymus	thymus
48	chr8:60026600-60027600	Weak transcription	Thymus	Thymus
49	chr8:60027000-60027400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr8:60027000-60027600	Weak transcription	Rectal Smooth Muscle	rectum

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