Variant report

Variant	rs11064878
Chromosome Location	chr12:120133221-120133222
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:42)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:42 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:120132958-120133225	Gliobla	brain:	n/a	n/a
2	CTCF	chr12:120133120-120133270	GM12870	blood:	n/a	n/a
3	ZNF143	chr12:120133039-120133230	GM12878	blood:	n/a	n/a
4	CTCF	chr12:120132831-120133318	MCF-7	breast:	n/a	n/a
5	CTCF	chr12:120132819-120133383	MCF-7	breast:	n/a	n/a
6	CTCF	chr12:120132927-120133306	K562	blood:	n/a	n/a
7	CTCF	chr12:120132916-120133269	IMR90	lung:	n/a	n/a
8	CTCF	chr12:120132907-120133229	A549	lung:	n/a	n/a
9	CTCF	chr12:120132976-120133226	GM19240	blood:	n/a	n/a
10	SMC3	chr12:120133006-120133258	K562	blood:	n/a	n/a
11	RAD21	chr12:120132922-120133240	H1-hESC	embryonic stem cell:	n/a	n/a
12	RAD21	chr12:120132974-120133230	A549	lung:	n/a	n/a
13	MAZ	chr12:120133050-120133247	K562	blood:	n/a	n/a
14	RAD21	chr12:120132958-120133224	H1-hESC	embryonic stem cell:	n/a	n/a
15	RAD21	chr12:120132925-120133233	SK-N-SH_RA	brain:	n/a	n/a
16	RAD21	chr12:120132917-120133245	Hela-S3	cervix:	n/a	n/a
17	SMC3	chr12:120132918-120133240	Hela-S3	cervix:	n/a	n/a
18	CTCF	chr12:120132849-120133262	HepG2	liver:	n/a	n/a
19	RAD21	chr12:120132953-120133246	HepG2	liver:	n/a	n/a
20	CTCF	chr12:120132915-120133265	K562	blood:	n/a	n/a
21	RAD21	chr12:120132816-120133312	MCF-7	breast:	n/a	n/a
22	CTCF	chr12:120132972-120133227	A549	lung:	n/a	n/a
23	RAD21	chr12:120132932-120133265	HepG2	liver:	n/a	n/a
24	CTCF	chr12:120132982-120133229	Fibrobl	skin:	n/a	n/a
25	SMC3	chr12:120132900-120133268	HepG2	liver:	n/a	n/a
26	CTCF	chr12:120132873-120133267	T-47D	breast:	n/a	n/a
27	CTCF	chr12:120132873-120133360	HCT-116	colon:	n/a	n/a
28	RAD21	chr12:120132878-120133233	H1-hESC	embryonic stem cell:	n/a	n/a
29	RAD21	chr12:120132859-120133280	HCT-116	colon:	n/a	n/a
30	CTCF	chr12:120132969-120133246	HepG2	liver:	n/a	n/a
31	CTCF	chr12:120132703-120133395	A549	lung:	n/a	n/a
32	CTCF	chr12:120133002-120133227	GM12891	blood:	n/a	n/a
33	CTCF	chr12:120132958-120133229	GM12878	blood:	n/a	n/a
34	CTCF	chr12:120132893-120133251	A549	lung:	n/a	n/a
35	SMC3	chr12:120132948-120133244	GM12878	blood:	n/a	n/a
36	CTCF	chr12:120132902-120133233	T-47D	breast:	n/a	n/a
37	RAD21	chr12:120132946-120133246	IMR90	lung:	n/a	n/a
38	CTCF	chr12:120132923-120133262	GM12878	blood:	n/a	n/a
39	RAD21	chr12:120132890-120133326	MCF-7	breast:	n/a	n/a
40	CTCF	chr12:120132956-120133229	MCF-7	breast:	n/a	n/a
41	CTCF	chr12:120132964-120133233	GM19238	blood:	n/a	n/a
42	CTCF	chr12:120132923-120133223	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:120132592..120133485-chr12:120339505..120340183,2	MCF-7	breast:
2	chr12:120121421..120124457-chr12:120131383..120133507,3	K562	blood:
3	chr12:120126910..120129886-chr12:120131473..120133704,2	K562	blood:
4	chr12:120132651..120133327-chr12:120218356..120219037,3	MCF-7	breast:
5	chr12:120132562..120133399-chr12:120167919..120168756,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000255692	TF binding region

rs_ID	r²[population]
rs10849699	0.87[EUR][1000 genomes]
rs11064877	1.00[ASN][1000 genomes]
rs11064902	1.00[EUR][1000 genomes]
rs11064910	0.87[EUR][1000 genomes]
rs11064913	0.87[EUR][1000 genomes]
rs11064915	0.87[EUR][1000 genomes]
rs11064918	0.87[EUR][1000 genomes]
rs11064920	0.87[EUR][1000 genomes]
rs11064926	1.00[EUR][1000 genomes]
rs11064929	1.00[EUR][1000 genomes]
rs11064930	1.00[EUR][1000 genomes]
rs11064931	1.00[EUR][1000 genomes]
rs11064933	1.00[EUR][1000 genomes]
rs11064934	1.00[EUR][1000 genomes]
rs11064935	1.00[EUR][1000 genomes]
rs11064936	1.00[EUR][1000 genomes]
rs11064937	1.00[EUR][1000 genomes]
rs11064938	1.00[EUR][1000 genomes]
rs11064939	1.00[EUR][1000 genomes]
rs11064940	1.00[EUR][1000 genomes]
rs11064941	1.00[EUR][1000 genomes]
rs11064942	1.00[EUR][1000 genomes]
rs11064944	1.00[EUR][1000 genomes]
rs12231774	0.87[EUR][1000 genomes]
rs280581	0.87[EUR][1000 genomes]
rs3742046	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3809307	0.87[EUR][1000 genomes]
rs55680945	1.00[EUR][1000 genomes]
rs57336895	0.87[EUR][1000 genomes]
rs57617020	1.00[EUR][1000 genomes]
rs58261374	1.00[EUR][1000 genomes]
rs58974044	1.00[EUR][1000 genomes]
rs59953935	1.00[EUR][1000 genomes]
rs60782728	1.00[EUR][1000 genomes]
rs7966776	1.00[EUR][1000 genomes]
rs7971089	1.00[EUR][1000 genomes]
rs7975107	0.87[EUR][1000 genomes]
rs7978181	0.87[EUR][1000 genomes]

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120108200-120161000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:120116800-120201800	Weak transcription	Fetal Heart	heart
3	chr12:120117000-120145800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr12:120119200-120135400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr12:120119200-120141200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr12:120119600-120147000	Weak transcription	Brain Substantia Nigra	brain
7	chr12:120119800-120149800	Weak transcription	Placenta	Placenta
8	chr12:120120000-120135000	Weak transcription	Esophagus	oesophagus
9	chr12:120120000-120135200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr12:120120200-120148000	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr12:120120400-120137200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr12:120120400-120145600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr12:120120800-120137600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:120121000-120151800	Weak transcription	Primary T cells from cord blood	blood
15	chr12:120121200-120173400	Weak transcription	Primary B cells from cord blood	blood
16	chr12:120122200-120160800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr12:120123400-120136200	Strong transcription	Thymus	Thymus
18	chr12:120123400-120182000	Strong transcription	Dnd41	blood
19	chr12:120125400-120134800	Weak transcription	Gastric	stomach
20	chr12:120125800-120134800	Weak transcription	HMEC	breast
21	chr12:120126000-120154000	Weak transcription	Right Ventricle	heart
22	chr12:120126400-120134600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr12:120126400-120150000	Weak transcription	Primary hematopoietic stem cells	blood
24	chr12:120126600-120134400	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr12:120126600-120158000	Weak transcription	Colonic Mucosa	Colon
26	chr12:120126800-120135400	Weak transcription	NHEK	skin
27	chr12:120127600-120143200	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr12:120128400-120133800	Weak transcription	Fetal Thymus	thymus
29	chr12:120128600-120133400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr12:120128600-120134200	Weak transcription	Brain Anterior Caudate	brain
31	chr12:120128600-120134200	Weak transcription	Fetal Muscle Trunk	muscle
32	chr12:120128600-120134600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr12:120128600-120134600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr12:120128800-120134400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr12:120128800-120134800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:120128800-120135200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr12:120128800-120135400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr12:120129200-120133600	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr12:120129400-120134200	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr12:120129400-120134800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr12:120129400-120134800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr12:120129400-120134800	Weak transcription	Spleen	Spleen
43	chr12:120129400-120135000	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr12:120129400-120139400	Weak transcription	Lung	lung
45	chr12:120130600-120135200	Weak transcription	Fetal Brain Female	brain
46	chr12:120130800-120134600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr12:120130800-120135000	Weak transcription	Brain Hippocampus Middle	brain
48	chr12:120130800-120182200	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr12:120131000-120135000	Weak transcription	HepG2	liver
50	chr12:120131000-120137600	Weak transcription	K562	blood

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