Variant report

Variant	rs60449221
Chromosome Location	chr11:8720740-8720741
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:33)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:33 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD2	chr11:8720740-8720929	HepG2	liver:	n/a	n/a
2	SIN3A	chr11:8720702-8720954	H1-hESC	embryonic stem cell:	n/a	chr11:8720705-8720714
3	TCF12	chr11:8720539-8720815	H1-hESC	embryonic stem cell:	n/a	chr11:8720710-8720720
4	POLR2A	chr11:8720103-8722012	K562	blood:	n/a	n/a
5	POLR2A	chr11:8720693-8721260	GM12891	blood:	n/a	n/a
6	POLR2A	chr11:8703054-8722039	HepG2	liver:	n/a	n/a
7	POLR2A	chr11:8720086-8722180	ECC-1	luminal epithelium:	n/a	n/a
8	POLR2A	chr11:8720285-8721141	ECC-1	luminal epithelium:	n/a	n/a
9	POLR2A	chr11:8719782-8722199	H1-hESC	embryonic stem cell:	n/a	n/a
10	SP1	chr11:8720403-8720920	H1-hESC	embryonic stem cell:	n/a	chr11:8720725-8720739
11	EP300	chr11:8720428-8720843	H1-hESC	embryonic stem cell:	n/a	chr11:8720617-8720626
12	POLR2A	chr11:8720715-8721299	GM12891	blood:	n/a	n/a
13	POLR2A	chr11:8716661-8722311	Hela-S3	cervix:	n/a	n/a
14	MAX	chr11:8719967-8720741	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr11:8718535-8722277	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr11:8720732-8720963	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr11:8720675-8721174	GM12892	blood:	n/a	n/a
18	POLR2A	chr11:8720706-8721014	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr11:8720661-8721874	H1-hESC	embryonic stem cell:	n/a	n/a
20	RAD21	chr11:8720668-8720868	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr11:8720186-8721053	K562	blood:	n/a	n/a
22	POLR2A	chr11:8718876-8722220	Hela-S3	cervix:	n/a	n/a
23	JUND	chr11:8720587-8720812	H1-hESC	embryonic stem cell:	n/a	n/a
24	TCF12	chr11:8720543-8720871	H1-hESC	embryonic stem cell:	n/a	chr11:8720710-8720720
25	ATF2	chr11:8719695-8720794	H1-hESC	embryonic stem cell:	n/a	n/a
26	CHD2	chr11:8720284-8720959	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr11:8716731-8722284	K562	blood:	n/a	n/a
28	POLR2A	chr11:8720722-8721349	Hela-S3	cervix:	n/a	n/a
29	CTBP2	chr11:8720127-8721072	H1-hESC	embryonic stem cell:	n/a	n/a
30	ZNF143	chr11:8720390-8720964	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr11:8718605-8722100	A549	lung:	n/a	n/a
32	POLR2A	chr11:8703113-8722297	HepG2	liver:	n/a	n/a
33	POLR2A	chr11:8720570-8721186	PFSK-1	brain:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:8715747..8718596-chr11:8720024..8721952,2	MCF-7	breast:
2	chr11:8709503..8714356-chr11:8719036..8721571,6	MCF-7	breast:
3	chr11:8719120..8722068-chr11:8726916..8729011,2	MCF-7	breast:
4	chr11:8720712..8722850-chr11:8760590..8762242,2	K562	blood:
5	chr11:8717868..8722426-chr11:8832973..8835335,4	K562	blood:
6	chr11:8719301..8720930-chr11:8796904..8798885,2	K562	blood:
7	chr11:8708063..8712072-chr11:8719395..8721853,4	MCF-7	breast:

No data

Variant related genes	Relation type
ST5	TF binding region
ENSG00000166444	Chromatin interaction
ENSG00000166441	Chromatin interaction

rs_ID	r²[population]
rs4520599	0.87[AMR][1000 genomes]
rs55931237	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57312436	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59752192	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59942149	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61685207	0.81[AFR][1000 genomes]
rs74055113	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7935091	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8710800-8721200	Weak transcription	Small Intestine	intestine
2	chr11:8711400-8721000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr11:8711600-8720800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr11:8711600-8721400	Weak transcription	Primary B cells from cord blood	blood
5	chr11:8711800-8720800	Strong transcription	HSMM	muscle
6	chr11:8711800-8721200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr11:8711800-8721200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr11:8711800-8721200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr11:8711800-8722200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr11:8711800-8724200	Weak transcription	Thymus	Thymus
11	chr11:8712000-8721200	Strong transcription	Cortex derived primary cultured neurospheres	brain
12	chr11:8712200-8721000	Strong transcription	Stomach Smooth Muscle	stomach
13	chr11:8712200-8721200	Strong transcription	Duodenum Smooth Muscle	Duodenum
14	chr11:8712200-8721400	Weak transcription	Dnd41	blood
15	chr11:8712600-8721000	Strong transcription	Fetal Thymus	thymus
16	chr11:8712800-8721600	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr11:8712800-8721800	Strong transcription	Fetal Stomach	stomach
18	chr11:8713000-8720800	Strong transcription	Muscle Satellite Cultured Cells	--
19	chr11:8713000-8721000	Strong transcription	Colon Smooth Muscle	Colon
20	chr11:8713000-8721000	Strong transcription	Placenta	Placenta
21	chr11:8713000-8721600	Strong transcription	Fetal Lung	lung
22	chr11:8713000-8722000	Strong transcription	Rectal Mucosa Donor 31	rectum
23	chr11:8713200-8721200	Strong transcription	Duodenum Mucosa	Duodenum
24	chr11:8713200-8721400	Strong transcription	Right Ventricle	heart
25	chr11:8713200-8730000	Strong transcription	Liver	Liver
26	chr11:8713600-8723400	Strong transcription	Esophagus	oesophagus
27	chr11:8713800-8721000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr11:8713800-8721000	Strong transcription	Skeletal Muscle Female	skeletal muscle
29	chr11:8714000-8721000	Strong transcription	Lung	lung
30	chr11:8714000-8721200	Strong transcription	Ovary	ovary
31	chr11:8714000-8722000	Strong transcription	Aorta	Aorta
32	chr11:8714600-8721000	Strong transcription	NHEK	skin
33	chr11:8715000-8721200	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr11:8715400-8720800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr11:8715400-8721800	Weak transcription	Psoas Muscle	Psoas
36	chr11:8715400-8733600	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr11:8716000-8721000	Strong transcription	Osteobl	bone
38	chr11:8716200-8720800	Strong transcription	Skeletal Muscle Male	skeletal muscle
39	chr11:8716200-8721000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr11:8716200-8721200	Strong transcription	NHLF	lung
41	chr11:8716200-8722000	Weak transcription	K562	blood
42	chr11:8716200-8725000	Weak transcription	Fetal Brain Male	brain
43	chr11:8716400-8720800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr11:8716400-8721000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr11:8716800-8722000	Strong transcription	Colonic Mucosa	Colon
46	chr11:8717800-8720800	Weak transcription	HUVEC	blood vessel
47	chr11:8718400-8722200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr11:8719000-8721400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
49	chr11:8719000-8721800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr11:8719200-8721200	Genic enhancers	HepG2	liver

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