Variant report

Variant	rs74055109
Chromosome Location	chr11:8711740-8711741
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:57)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:57 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:8702898-8711816	GM12891	blood:	n/a	n/a
2	POLR2A	chr11:8709385-8712824	K562	blood:	n/a	n/a
3	POLR2A	chr11:8702842-8711846	PANC-1	pancreas:	n/a	n/a
4	ZMIZ1	chr11:8709926-8711794	K562	blood:	n/a	n/a
5	POLR2A	chr11:8711232-8712499	GM12892	blood:	n/a	n/a
6	POLR2A	chr11:8707894-8712756	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr11:8702826-8712230	PFSK-1	brain:	n/a	n/a
8	POLR2A	chr11:8703054-8722039	HepG2	liver:	n/a	n/a
9	POLR2A	chr11:8707866-8711917	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr11:8702980-8720607	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr11:8700198-8712489	PANC-1	pancreas:	n/a	n/a
12	POLR2A	chr11:8711384-8711769	GM12878	blood:	n/a	n/a
13	POLR2A	chr11:8703029-8712154	K562	blood:	n/a	n/a
14	POLR2A	chr11:8711365-8711773	ECC-1	luminal epithelium:	n/a	n/a
15	POLR2A	chr11:8711243-8712534	GM12891	blood:	n/a	n/a
16	POLR2A	chr11:8700848-8711808	HepG2	liver:	n/a	n/a
17	POLR2A	chr11:8707326-8716047	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr11:8711338-8711761	GM12891	blood:	n/a	n/a
19	POLR2A	chr11:8708295-8712600	GM12891	blood:	n/a	n/a
20	POLR2A	chr11:8706411-8711893	K562	blood:	n/a	n/a
21	POLR2A	chr11:8709349-8712767	K562	blood:	n/a	n/a
22	POLR2A	chr11:8706483-8711750	HUVEC	blood vessel:	n/a	n/a
23	POLR2A	chr11:8708249-8712646	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr11:8702994-8711864	GM12892	blood:	n/a	n/a
25	POLR2A	chr11:8708286-8711978	PBDE	blood:	n/a	n/a
26	KAP1	chr11:8711216-8711767	K562	blood:	n/a	n/a
27	POLR2A	chr11:8711395-8711772	GM12878	blood:	n/a	n/a
28	POLR2A	chr11:8709372-8711786	HL-60	blood:	n/a	n/a
29	POLR2A	chr11:8711305-8711952	Hela-S3	cervix:	n/a	n/a
30	SPI1	chr11:8711617-8711769	K562	blood:	n/a	n/a
31	POLR2A	chr11:8707524-8713601	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr11:8703054-8712257	K562	blood:	n/a	n/a
33	HCFC1	chr11:8709305-8711757	Hela-S3	cervix:	n/a	n/a
34	USF2	chr11:8711680-8712096	K562	blood:	n/a	n/a
35	POLR2A	chr11:8707640-8711843	GM18505	blood:	n/a	n/a
36	POLR2A	chr11:8711288-8711943	PFSK-1	brain:	n/a	n/a
37	TBL1XR1	chr11:8709706-8712154	K562	blood:	n/a	n/a
38	POLR2A	chr11:8708363-8712754	Hela-S3	cervix:	n/a	n/a
39	ZNF143	chr11:8711421-8711767	K562	blood:	n/a	n/a
40	POLR2A	chr11:8703209-8716167	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr11:8702918-8712569	GM12878	blood:	n/a	n/a
42	POLR2A	chr11:8703068-8711848	K562	blood:	n/a	n/a
43	POLR2A	chr11:8708179-8712271	HepG2	liver:	n/a	n/a
44	POLR2A	chr11:8711332-8711779	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr11:8706470-8718381	A549	lung:	n/a	n/a
46	CHD2	chr11:8709650-8712636	K562	blood:	n/a	n/a
47	POLR2A	chr11:8708092-8716216	IMR90	lung:	n/a	n/a
48	POLR2A	chr11:8707980-8711840	GM12892	blood:	n/a	n/a
49	ZC3H11A	chr11:8711426-8711875	K562	blood:	n/a	n/a
50	POLR2A	chr11:8711223-8711784	K562	blood:	n/a	n/a

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:8709152..8712798-chr11:8746110..8748956,4	MCF-7	breast:
2	chr11:8476130..8478449-chr11:8710032..8712204,2	K562	blood:
3	chr11:8708222..8712147-chr11:8785051..8789387,4	MCF-7	breast:
4	chr11:8711214..8713494-chr11:8834662..8837467,3	K562	blood:
5	chr11:8711146..8713516-chr11:8750024..8752030,2	K562	blood:
6	chr11:8708277..8712745-chr11:8814108..8817920,5	MCF-7	breast:
7	chr11:8708558..8712875-chr11:8739230..8741866,3	K562	blood:
8	chr11:8709096..8712017-chr11:9482712..9485056,2	K562	blood:
9	chr11:8709069..8714690-chr11:8738952..8744779,10	MCF-7	breast:
10	chr11:8709479..8712307-chr11:8712972..8716902,4	MCF-7	breast:
11	chr11:8709205..8712397-chr11:8778361..8782089,3	MCF-7	breast:
12	chr11:8711697..8714687-chr11:8851727..8854512,2	K562	blood:
13	chr11:8708063..8712072-chr11:8719395..8721853,4	MCF-7	breast:
14	chr11:8709503..8714356-chr11:8719036..8721571,6	MCF-7	breast:
15	chr11:8709428..8711935-chr11:8797742..8799466,2	K562	blood:
16	chr11:8709045..8711792-chr2:74211303..74213379,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000254665	TF binding region
ENSG00000130413	Chromatin interaction
ENSG00000254665	Chromatin interaction
ENSG00000166444	Chromatin interaction
ENSG00000166478	Chromatin interaction
ENSG00000235499	Chromatin interaction

rs_ID	r²[population]
rs4520599	0.90[AFR][1000 genomes]
rs61685207	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74055106	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74055115	1.00[EUR][1000 genomes]

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8710200-8711800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
2	chr11:8710800-8711800	Flanking Active TSS	Brain Germinal Matrix	brain
3	chr11:8710800-8712800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr11:8710800-8713000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:8710800-8713200	Weak transcription	Gastric	stomach
6	chr11:8710800-8714400	Weak transcription	Pancreas	Pancrea
7	chr11:8710800-8721200	Weak transcription	Small Intestine	intestine
8	chr11:8711000-8711800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr11:8711000-8712000	Flanking Active TSS	Dnd41	blood
10	chr11:8711000-8712800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr11:8711000-8713000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:8711000-8713000	Weak transcription	Colonic Mucosa	Colon
13	chr11:8711000-8713200	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr11:8711000-8713200	Weak transcription	Right Ventricle	heart
15	chr11:8711000-8713600	Weak transcription	Esophagus	oesophagus
16	chr11:8711000-8713600	Weak transcription	Left Ventricle	heart
17	chr11:8711000-8713600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr11:8711000-8714000	Weak transcription	Lung	lung
19	chr11:8711000-8714000	Weak transcription	Ovary	ovary
20	chr11:8711000-8718400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr11:8711000-8720000	Weak transcription	Stomach Mucosa	stomach
22	chr11:8711200-8711800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr11:8711200-8711800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr11:8711200-8711800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr11:8711200-8711800	Flanking Active TSS	A549	lung
26	chr11:8711200-8711800	Genic enhancers	HSMM	muscle
27	chr11:8711200-8712000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr11:8711200-8712000	Weak transcription	Fetal Muscle Trunk	muscle
29	chr11:8711200-8712000	Enhancers	HepG2	liver
30	chr11:8711200-8712200	Flanking Active TSS	K562	blood
31	chr11:8711200-8712800	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr11:8711200-8713000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr11:8711200-8713000	Weak transcription	Adipose Nuclei	Adipose
34	chr11:8711200-8713000	Weak transcription	Colon Smooth Muscle	Colon
35	chr11:8711200-8713000	Weak transcription	Fetal Intestine Large	intestine
36	chr11:8711200-8713000	Weak transcription	Fetal Lung	lung
37	chr11:8711200-8713200	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr11:8711200-8713800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr11:8711200-8713800	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr11:8711200-8714000	Weak transcription	Aorta	Aorta
41	chr11:8711200-8714200	Weak transcription	Brain Hippocampus Middle	brain
42	chr11:8711200-8714200	Weak transcription	Fetal Kidney	kidney
43	chr11:8711200-8714400	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr11:8711200-8715800	Weak transcription	Fetal Brain Male	brain
45	chr11:8711200-8717000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr11:8711400-8711800	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:8711400-8711800	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr11:8711400-8711800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr11:8711400-8711800	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr11:8711400-8711800	Enhancers	Primary T helper naive cells from peripheral blood	blood

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