Variant report

Variant	rs61224858
Chromosome Location	chr11:46941487-46941488
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:124)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:124 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	UBTF	chr11:46941486-46941617	K562	blood:	n/a	n/a
2	CTCF	chr11:46941347-46941792	A549	lung:	n/a	n/a
3	ZMIZ1	chr11:46941478-46941698	K562	blood:	n/a	n/a
4	CTCF	chr11:46941443-46941751	K562	blood:	n/a	n/a
5	RAD21	chr11:46941398-46941851	ECC-1	luminal epithelium:	n/a	n/a
6	CTCF	chr11:46941477-46941746	GM10248	blood:	n/a	n/a
7	RAD21	chr11:46941382-46941858	MCF-7	breast:	n/a	n/a
8	RCOR1	chr11:46941081-46943128	IMR90	lung:	n/a	n/a
9	EP300	chr11:46941448-46941725	K562	blood:	n/a	n/a
10	RUNX3	chr11:46941397-46941791	GM12878	blood:	n/a	n/a
11	MAX	chr11:46941271-46941757	H1-hESC	embryonic stem cell:	n/a	chr11:46941540-46941549
12	MXI1	chr11:46941160-46941912	SK-N-SH	brain:	n/a	n/a
13	CTCF	chr11:46941473-46941737	MCF-7	breast:	n/a	n/a
14	ARID3A	chr11:46941337-46941756	HepG2	liver:	n/a	n/a
15	RAD21	chr11:46941412-46941798	HepG2	liver:	n/a	n/a
16	SMC3	chr11:46941410-46941810	HepG2	liver:	n/a	n/a
17	SMC3	chr11:46941404-46941800	K562	blood:	n/a	n/a
18	CTCF	chr11:46941480-46941630	HA-sp	spinal cord:	n/a	n/a
19	CTCF	chr11:46941379-46941889	MCF-7	breast:	n/a	n/a
20	CTCF	chr11:46941460-46941737	Pancreas_OC	pancreas:	n/a	n/a
21	MYC	chr11:46941468-46941656	MCF10A-Er-Src	breast:	n/a	chr11:46941540-46941549
22	MAFF	chr11:46941440-46941703	K562	blood:	n/a	n/a
23	RAD21	chr11:46941462-46941718	K562	blood:	n/a	n/a
24	YY1	chr11:46941445-46941712	SK-N-SH_RA	brain:	n/a	n/a
25	STAT3	chr11:46941456-46941606	MCF10A-Er-Src	breast:	n/a	n/a
26	CTCF	chr11:46941369-46941796	K562	blood:	n/a	n/a
27	RFX5	chr11:46941449-46941714	HepG2	liver:	n/a	chr11:46941535-46941550 chr11:46941537-46941552 chr11:46941534-46941551 chr11:46941535-46941550 chr11:46941535-46941550
28	RAD21	chr11:46941348-46941773	MCF-7	breast:	n/a	n/a
29	RCOR1	chr11:46941355-46941746	HepG2	liver:	n/a	n/a
30	CTCF	chr11:46941398-46941691	K562	blood:	n/a	n/a
31	RAD21	chr11:46941401-46941746	GM12878	blood:	n/a	n/a
32	SMC3	chr11:46941393-46941782	GM12878	blood:	n/a	n/a
33	CTCF	chr11:46941182-46942900	A549	lung:	n/a	n/a
34	CTCF	chr11:46941370-46941838	HCT-116	colon:	n/a	n/a
35	ZNF143	chr11:46941452-46941732	Hela-S3	cervix:	n/a	n/a
36	CTCF	chr11:46941484-46941714	LNCaP	prostate:	n/a	n/a
37	RAD21	chr11:46941465-46941674	K562	blood:	n/a	n/a
38	CTCF	chr11:46941471-46941716	GM13977	blood:	n/a	n/a
39	RAD21	chr11:46941365-46941866	H1-hESC	embryonic stem cell:	n/a	n/a
40	ZC3H11A	chr11:46941339-46941767	K562	blood:	n/a	n/a
41	CTCF	chr11:46941471-46941740	T-47D	breast:	n/a	n/a
42	RAD21	chr11:46941397-46941872	SK-N-SH_RA	brain:	n/a	n/a
43	CTCF	chr11:46941456-46941745	Gliobla	brain:	n/a	n/a
44	RAD21	chr11:46941395-46941797	ECC-1	luminal epithelium:	n/a	n/a
45	CTCF	chr11:46941486-46941712	HepG2	liver:	n/a	n/a
46	ZNF384	chr11:46941421-46941771	K562	blood:	n/a	n/a
47	CEBPB	chr11:46941433-46941771	IMR90	lung:	n/a	n/a
48	RAD21	chr11:46941409-46941821	IMR90	lung:	n/a	n/a
49	ARID3A	chr11:46941431-46941705	K562	blood:	n/a	n/a
50	RAD21	chr11:46941309-46941864	HepG2	liver:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:46936734..46939030-chr11:46940693..46942577,2	K562	blood:
2	chr11:46941127..46942012-chr11:47174363..47175170,3	MCF-7	breast:
3	chr11:46940215..46942455-chr11:47173269..47176322,3	MCF-7	breast:
4	chr11:46941180..46942052-chr11:47174287..47175251,5	K562	blood:
5	chr11:46941414..46942001-chr11:47182406..47183382,2	MCF-7	breast:
6	chr11:46941286..46942092-chr11:47174349..47175242,5	MCF-7	breast:
7	chr11:46846941..46849918-chr11:46939245..46941639,2	MCF-7	breast:
8	chr11:46941205..46942113-chr11:47182281..47183725,5	K562	blood:
9	chr11:46941107..46942004-chr11:47044229..47044846,2	K562	blood:
10	chr11:46941459..46943862-chr11:47177882..47181133,3	K562	blood:

No data

Variant related genes	Relation type
LRP4	TF binding region
ENSG00000149179	Chromatin interaction
ENSG00000175216	Chromatin interaction

rs_ID	r²[population]
rs12272266	0.82[AMR][1000 genomes]
rs4084459	0.82[AMR][1000 genomes]
rs6485743	0.81[AMR][1000 genomes]
rs7103266	0.85[AFR][1000 genomes]
rs7106654	0.81[AMR][1000 genomes]
rs7125863	0.84[AFR][1000 genomes]

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46939400-46941600	Enhancers	Fetal Brain Male	brain
2	chr11:46940200-46941800	Enhancers	K562	blood
3	chr11:46940400-46941600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
4	chr11:46940400-46941600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
5	chr11:46940400-46941600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
6	chr11:46940400-46941800	Enhancers	Fetal Kidney	kidney
7	chr11:46940400-46943000	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr11:46940600-46941600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr11:46940600-46941600	Enhancers	Brain Substantia Nigra	brain
10	chr11:46940600-46941600	Enhancers	Fetal Stomach	stomach
11	chr11:46940600-46941600	Weak transcription	HSMM	muscle
12	chr11:46940600-46941800	Enhancers	Brain Cingulate Gyrus	brain
13	chr11:46940600-46941800	Enhancers	Brain Hippocampus Middle	brain
14	chr11:46940600-46941800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr11:46940600-46941800	Enhancers	Duodenum Mucosa	Duodenum
16	chr11:46940600-46941800	Weak transcription	Psoas Muscle	Psoas
17	chr11:46940600-46941800	Enhancers	Stomach Mucosa	stomach
18	chr11:46940600-46941800	Flanking Active TSS	HepG2	liver
19	chr11:46940600-46942000	Weak transcription	Right Atrium	heart
20	chr11:46940600-46942200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr11:46940600-46942600	Enhancers	Brain Anterior Caudate	brain
22	chr11:46940600-46942800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr11:46940600-46942800	Enhancers	Fetal Muscle Leg	muscle
24	chr11:46940600-46942800	Enhancers	HMEC	breast
25	chr11:46940600-46943000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr11:46940600-46943000	Enhancers	Colon Smooth Muscle	Colon
27	chr11:46940600-46943000	Enhancers	Right Ventricle	heart
28	chr11:46940600-46943000	Enhancers	HUVEC	blood vessel
29	chr11:46940600-46943000	Enhancers	NHEK	skin
30	chr11:46940600-46943200	Enhancers	Muscle Satellite Cultured Cells	--
31	chr11:46940600-46943200	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr11:46940600-46943200	Enhancers	NHLF	lung
33	chr11:46940600-46943200	Enhancers	Osteobl	bone
34	chr11:46940600-46943400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr11:46940600-46943800	Enhancers	Fetal Lung	lung
36	chr11:46940600-46949600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr11:46940600-46951400	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr11:46940800-46941600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr11:46940800-46941800	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr11:46940800-46942000	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr11:46940800-46942600	Enhancers	A549	lung
42	chr11:46940800-46942800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr11:46940800-46943000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr11:46940800-46943400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr11:46940800-46943400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr11:46941000-46941600	Enhancers	H1 Cell Line	embryonic stem cell
47	chr11:46941000-46941800	Enhancers	Fetal Intestine Small	intestine
48	chr11:46941000-46941800	Weak transcription	Fetal Muscle Trunk	muscle
49	chr11:46941000-46941800	Enhancers	Rectal Smooth Muscle	rectum
50	chr11:46941000-46942000	Weak transcription	Colonic Mucosa	Colon

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