Variant report

Variant	rs61201861
Chromosome Location	chr8:67372358-67372359
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	RAD21	chr8:67371919-67372547	IMR90	lung:	n/a	chr8:67372172-67372191
2	RFX5	chr8:67372338-67372388	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr8:67371960-67372413	IMR90	lung:	n/a	chr8:67372173-67372194
4	SMC3	chr8:67371996-67372448	GM12878	blood:	n/a	n/a
5	RAD21	chr8:67371999-67372396	GM12878	blood:	n/a	chr8:67372172-67372191
6	CTCF	chr8:67372058-67372412	MCF-7	breast:	n/a	chr8:67372173-67372194
7	RAD21	chr8:67371910-67372558	A549	lung:	n/a	chr8:67372172-67372191
8	RAD21	chr8:67371887-67372486	H1-hESC	embryonic stem cell:	n/a	chr8:67372172-67372191
9	CTCF	chr8:67371796-67372650	A549	lung:	n/a	chr8:67372173-67372194
10	POLR2A	chr8:67371951-67372401	PANC-1	pancreas:	n/a	n/a
11	CTCF	chr8:67372041-67372419	MCF-7	breast:	n/a	chr8:67372173-67372194
12	RAD21	chr8:67371946-67372423	ECC-1	luminal epithelium:	n/a	chr8:67372172-67372191
13	CTCF	chr8:67371914-67372423	A549	lung:	n/a	chr8:67372173-67372194
14	FOXP2	chr8:67372085-67372360	SK-N-MC	brain:	n/a	n/a
15	SMC3	chr8:67371976-67372574	Hela-S3	cervix:	n/a	n/a
16	RAD21	chr8:67371849-67372549	MCF-7	breast:	n/a	chr8:67372172-67372191
17	RAD21	chr8:67372047-67372358	K562	blood:	n/a	chr8:67372172-67372191
18	CTCF	chr8:67372220-67372370	HCM	heart:	n/a	n/a
19	RAD21	chr8:67372000-67372389	HepG2	liver:	n/a	chr8:67372172-67372191
20	CTCF	chr8:67371974-67372400	GM12878	blood:	n/a	chr8:67372173-67372194
21	MAFK	chr8:67372024-67372595	IMR90	lung:	n/a	chr8:67372183-67372194 chr8:67372181-67372195 chr8:67372521-67372532 chr8:67372520-67372531 chr8:67372178-67372194 chr8:67372516-67372532 chr8:67372521-67372532 chr8:67372519-67372533 chr8:67372182-67372193 chr8:67372520-67372531 chr8:67372183-67372194
22	RAD21	chr8:67371893-67372507	ECC-1	luminal epithelium:	n/a	chr8:67372172-67372191
23	RAD21	chr8:67371940-67372519	MCF-7	breast:	n/a	chr8:67372172-67372191
24	RAD21	chr8:67372002-67372391	H1-hESC	embryonic stem cell:	n/a	chr8:67372172-67372191
25	SMC3	chr8:67371859-67372578	SK-N-SH	brain:	n/a	n/a
26	RAD21	chr8:67371849-67372593	HCT-116	colon:	n/a	chr8:67372172-67372191
27	CTCF	chr8:67372240-67372390	NB4	blood:	n/a	n/a
28	RAD21	chr8:67371780-67372766	SK-N-SH	brain:	n/a	chr8:67372172-67372191
29	RAD21	chr8:67371959-67372403	Hela-S3	cervix:	n/a	chr8:67372172-67372191
30	RAD21	chr8:67371950-67372470	SK-N-SH_RA	brain:	n/a	chr8:67372172-67372191
31	RAD21	chr8:67371908-67372530	HCT-116	colon:	n/a	chr8:67372172-67372191
32	CTCF	chr8:67371982-67372582	SK-N-SH	brain:	n/a	chr8:67372173-67372194
33	RAD21	chr8:67372041-67372368	GM12878	blood:	n/a	chr8:67372172-67372191
34	RAD21	chr8:67371961-67372388	HepG2	liver:	n/a	chr8:67372172-67372191
35	RAD21	chr8:67371999-67372359	A549	lung:	n/a	chr8:67372172-67372191
36	RAD21	chr8:67371887-67372627	A549	lung:	n/a	chr8:67372172-67372191
37	CTCF	chr8:67371790-67372533	HCT-116	colon:	n/a	chr8:67372173-67372194
38	RAD21	chr8:67372017-67372413	GM12878	blood:	n/a	chr8:67372172-67372191
39	RAD21	chr8:67371966-67372395	H1-hESC	embryonic stem cell:	n/a	chr8:67372172-67372191

No.	Distal block	Cell Line	Cell type
1	chr8:67371423..67376205-chr8:67520601..67527002,8	MCF-7	breast:
2	chr8:67370489..67372991-chr8:67834453..67837306,2	MCF-7	breast:
3	chr8:67372183..67373683-chr8:67623863..67626623,2	MCF-7	breast:
4	chr8:67343368..67345307-chr8:67372235..67374136,2	K562	blood:

Variant related genes	Relation type
C8orf46	TF binding region
ENSG00000254341	Chromatin interaction
ENSG00000104205	Chromatin interaction
ENSG00000147576	Chromatin interaction
ENSG00000185697	Chromatin interaction
ENSG00000245910	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16932729	1.00[AMR][1000 genomes]
rs57303455	1.00[AMR][1000 genomes]
rs59180218	1.00[AMR][1000 genomes]
rs59891340	1.00[AMR][1000 genomes]
rs73691532	1.00[AMR][1000 genomes]
rs73691535	1.00[AMR][1000 genomes]
rs73691541	1.00[AMR][1000 genomes]
rs73691542	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3414665	chr8:66936816-67381935	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv6236	chr8:67359312-67403981	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67353600-67372400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr8:67356200-67374400	Strong transcription	Liver	Liver
3	chr8:67359400-67384400	Weak transcription	Fetal Kidney	kidney
4	chr8:67361200-67373800	Strong transcription	Fetal Intestine Small	intestine
5	chr8:67361400-67377400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr8:67361600-67374400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr8:67364400-67375800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr8:67364600-67373400	Weak transcription	Spleen	Spleen
9	chr8:67364600-67378800	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr8:67364800-67384000	Weak transcription	Colon Smooth Muscle	Colon
11	chr8:67365200-67374600	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr8:67365200-67377400	Weak transcription	Primary hematopoietic stem cells	blood
13	chr8:67365400-67372400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr8:67365400-67383800	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr8:67365600-67375400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr8:67365800-67372400	Weak transcription	Brain Angular Gyrus	brain
17	chr8:67365800-67379600	Weak transcription	Esophagus	oesophagus
18	chr8:67366000-67373400	Weak transcription	Gastric	stomach
19	chr8:67366000-67374000	Weak transcription	Right Ventricle	heart
20	chr8:67366000-67376600	Weak transcription	Right Atrium	heart
21	chr8:67366400-67373400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr8:67368200-67372600	Weak transcription	Left Ventricle	heart
23	chr8:67368400-67384400	Weak transcription	Psoas Muscle	Psoas
24	chr8:67368800-67372400	Weak transcription	Ovary	ovary
25	chr8:67368800-67374000	Weak transcription	Fetal Intestine Large	intestine
26	chr8:67369000-67373400	Weak transcription	Lung	lung
27	chr8:67369000-67375400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr8:67369000-67375800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr8:67369000-67376000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr8:67369000-67376000	Weak transcription	Fetal Heart	heart
31	chr8:67369400-67372600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr8:67369400-67373200	Weak transcription	Fetal Muscle Leg	muscle
33	chr8:67369600-67372400	Weak transcription	Aorta	Aorta
34	chr8:67369600-67373600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr8:67370800-67372400	Weak transcription	Pancreas	Pancrea
36	chr8:67370800-67374600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:67370800-67384200	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr8:67371000-67372400	Enhancers	NHEK	skin
39	chr8:67371000-67372600	Enhancers	HMEC	breast
40	chr8:67371000-67372800	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr8:67371200-67372800	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr8:67371200-67383800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr8:67371400-67372800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr8:67371400-67384200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr8:67371600-67372800	Enhancers	Hela-S3	cervix
46	chr8:67371800-67372600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr8:67372000-67372400	Enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr8:67372000-67372600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr8:67372000-67372600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
50	chr8:67372000-67372800	Enhancers	Fetal Lung	lung

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