Variant report

Variant	rs61746291
Chromosome Location	chr8:60033110-60033111
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	RAD21	chr8:60032114-60033273	H1-hESC	embryonic stem cell:	n/a	n/a
2	SIN3A	chr8:60032047-60033207	H1-hESC	embryonic stem cell:	n/a	n/a
3	SMC3	chr8:60029628-60033412	SK-N-SH	brain:	n/a	chr8:60030234-60030241
4	BACH1	chr8:60032159-60033118	H1-hESC	embryonic stem cell:	n/a	n/a
5	NFIC	chr8:60032864-60033420	ECC-1	luminal epithelium:	n/a	n/a
6	MXI1	chr8:60027222-60033187	SK-N-SH	brain:	n/a	chr8:60030980-60030995

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SDCBP-2	chr8:60032895-60033905	ENSG00000167912
2	lnc-SDCBP-2	chr8:60032895-60033874	ENSG00000167912
3	lnc-SDCBP-2	chr8:60032895-60034363	NONHSAT126802
4	lnc-SDCBP-2	chr8:60032895-60034363	NONHSAT126801

Variant related genes	Relation type
TOX	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10089655	1.00[AMR][1000 genomes]
rs10110417	1.00[AMR][1000 genomes]
rs12334681	1.00[AMR][1000 genomes]
rs16924611	1.00[AMR][1000 genomes]
rs73248426	1.00[AMR][1000 genomes]
rs73248428	1.00[AMR][1000 genomes]
rs73256400	1.00[AMR][1000 genomes]
rs73258327	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
2	esv3524312	chr8:60030498-60033446	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv3524313	chr8:60030498-60033446	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv3358496	chr8:60030823-60033771	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:60027600-60033200	Active TSS	Brain Angular Gyrus	brain
2	chr8:60027600-60033200	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr8:60029000-60033200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr8:60029200-60033200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr8:60030200-60033200	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr8:60030400-60033200	Active TSS	H9 Cell Line	embryonic stem cell
7	chr8:60030400-60033200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr8:60030400-60033400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr8:60031000-60033200	Active TSS	Fetal Stomach	stomach
10	chr8:60031600-60033200	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
11	chr8:60031600-60033400	Active TSS	Stomach Smooth Muscle	stomach
12	chr8:60032400-60033200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
13	chr8:60032400-60033400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
14	chr8:60032400-60033400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
15	chr8:60032400-60033400	Transcr. at gene 5' and 3'	Dnd41	blood
16	chr8:60032600-60033200	Flanking Active TSS	Colonic Mucosa	Colon
17	chr8:60032600-60033200	Flanking Active TSS	Colon Smooth Muscle	Colon
18	chr8:60032600-60033200	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
19	chr8:60032600-60033200	Enhancers	Spleen	Spleen
20	chr8:60032600-60033400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr8:60032600-60033400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr8:60032600-60033400	Flanking Active TSS	Primary hematopoietic stem cells	blood
23	chr8:60032600-60033400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr8:60032600-60033400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr8:60032600-60033400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
26	chr8:60032600-60033400	Flanking Active TSS	Fetal Thymus	thymus
27	chr8:60032600-60033400	Flanking Active TSS	Rectal Smooth Muscle	rectum
28	chr8:60032600-60033400	Flanking Active TSS	HUVEC	blood vessel
29	chr8:60032600-60033600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr8:60032800-60033200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
31	chr8:60032800-60033200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
32	chr8:60032800-60033200	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr8:60032800-60033200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
34	chr8:60032800-60033200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr8:60032800-60033200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
36	chr8:60032800-60033200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
37	chr8:60032800-60033200	Active TSS	Brain Anterior Caudate	brain
38	chr8:60032800-60033200	Active TSS	Duodenum Mucosa	Duodenum
39	chr8:60032800-60033200	Flanking Active TSS	Esophagus	oesophagus
40	chr8:60032800-60033200	Bivalent Enhancer	Placenta	Placenta
41	chr8:60032800-60033200	Enhancers	Lung	lung
42	chr8:60032800-60033200	Enhancers	Pancreas	Pancrea
43	chr8:60032800-60033200	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr8:60032800-60033200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
45	chr8:60032800-60033400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
46	chr8:60032800-60033400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr8:60032800-60033400	Flanking Active TSS	Thymus	Thymus
48	chr8:60032800-60034200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr8:60033000-60033200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
50	chr8:60033000-60033200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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