Variant report

Variant	rs59451782
Chromosome Location	chr8:38859104-38859105
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	FOSL2	chr8:38858275-38859269	A549	lung:	n/a	chr8:38858422-38858431
2	CHD1	chr8:38852795-38859264	IMR90	lung:	n/a	chr8:38854280-38854290 chr8:38854954-38854964
3	CEBPB	chr8:38858491-38859182	A549	lung:	n/a	n/a
4	GATA2	chr8:38856987-38859131	HUVEC	blood vessel:	n/a	n/a
5	GATA3	chr8:38858274-38859446	A549	lung:	n/a	n/a
6	FOS	chr8:38858474-38859117	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr8:38857757-38859185	HUVEC	blood vessel:	n/a	n/a
8	FOXA1	chr8:38858701-38859245	HepG2	liver:	n/a	chr8:38858856-38858868 chr8:38859061-38859073
9	EP300	chr8:38858438-38859148	SK-N-SH	brain:	n/a	chr8:38858859-38858869
10	FOXA2	chr8:38858559-38859358	A549	lung:	n/a	chr8:38858856-38858868 chr8:38859061-38859073
11	TCF12	chr8:38858505-38859231	A549	lung:	n/a	n/a
12	ATF3	chr8:38858739-38859185	A549	lung:	n/a	n/a
13	POLR2A	chr8:38858214-38859158	HUVEC	blood vessel:	n/a	n/a
14	POLR2A	chr8:38857932-38859139	HUVEC	blood vessel:	n/a	n/a
15	BCL3	chr8:38858439-38859247	A549	lung:	n/a	n/a
16	NR3C1	chr8:38858634-38859173	A549	lung:	n/a	n/a
17	PBX3	chr8:38858610-38859134	A549	lung:	n/a	n/a
18	EP300	chr8:38858454-38859315	A549	lung:	n/a	chr8:38858859-38858869
19	FOXA2	chr8:38858533-38859225	A549	lung:	n/a	chr8:38858856-38858868 chr8:38859061-38859073
20	FOSL2	chr8:38858568-38859212	SK-N-SH	brain:	n/a	n/a
21	GATA3	chr8:38858319-38859289	SK-N-SH	brain:	n/a	n/a
22	SP1	chr8:38856339-38859288	A549	lung:	n/a	n/a
23	TCF12	chr8:38858396-38859254	SK-N-SH	brain:	n/a	n/a
24	EP300	chr8:38858278-38859315	A549	lung:	n/a	chr8:38858419-38858433 chr8:38858859-38858869
25	GATA3	chr8:38858365-38859186	SK-N-SH	brain:	n/a	n/a
26	SIN3AK20	chr8:38858593-38859163	A549	lung:	n/a	n/a
27	FOSL1	chr8:38858591-38859231	HCT-116	colon:	n/a	n/a
28	POLR2A	chr8:38854896-38859164	HUVEC	blood vessel:	n/a	n/a
29	ETS1	chr8:38858644-38859114	A549	lung:	n/a	n/a
30	FOS	chr8:38858623-38859112	MCF10A-Er-Src	breast:	n/a	n/a
31	TCF12	chr8:38858490-38859175	SK-N-SH	brain:	n/a	n/a
32	MAX	chr8:38858434-38859278	A549	lung:	n/a	n/a
33	JUND	chr8:38858620-38859153	A549	lung:	n/a	n/a
34	POLR2A	chr8:38855026-38859169	HUVEC	blood vessel:	n/a	n/a
35	SP1	chr8:38858625-38859104	HCT-116	colon:	n/a	n/a
36	GABPA	chr8:38858633-38859117	A549	lung:	n/a	n/a
37	FOXA1	chr8:38858675-38859208	HepG2	liver:	n/a	chr8:38858856-38858868 chr8:38859061-38859073
38	TCF12	chr8:38853459-38859347	A549	lung:	n/a	chr8:38853682-38853690 chr8:38854813-38854820
39	USF1	chr8:38858615-38859114	A549	lung:	n/a	n/a
40	TEAD4	chr8:38858564-38859133	A549	lung:	n/a	n/a
41	GATA3	chr8:38858605-38859150	A549	lung:	n/a	n/a
42	PBX3	chr8:38858378-38859242	SK-N-SH	brain:	n/a	n/a
43	FOXA1	chr8:38858595-38859250	A549	lung:	n/a	chr8:38858856-38858868 chr8:38859061-38859073
44	MAX	chr8:38858496-38859232	A549	lung:	n/a	n/a
45	NR3C1	chr8:38858579-38859106	A549	lung:	n/a	n/a
46	SIX5	chr8:38858245-38859131	A549	lung:	n/a	n/a
47	GATA3	chr8:38858541-38859114	T-47D	breast:	n/a	n/a
48	GATA3	chr8:38858503-38859175	MCF-7	breast:	n/a	n/a
49	TEAD4	chr8:38858664-38859270	A549	lung:	n/a	n/a
50	REST	chr8:38858263-38859230	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:38856826..38859687-chr8:38879245..38881053,2	MCF-7	breast:
2	chr8:38859095..38861145-chr8:38882884..38884597,2	MCF-7	breast:
3	chr8:38839827..38841978-chr8:38857481..38860325,2	K562	blood:

Variant related genes	Relation type
TM2D2	TF binding region

rs_ID	r²[population]
rs55736573	1.00[AMR][1000 genomes]
rs56300006	0.83[AMR][1000 genomes]
rs56316649	0.86[AFR][1000 genomes]
rs56359509	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58771784	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58971487	0.81[AFR][1000 genomes]
rs73674664	1.00[AMR][1000 genomes]
rs73674665	0.83[AMR][1000 genomes]
rs73674666	0.83[AMR][1000 genomes]
rs73674680	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73674681	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73674682	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73674683	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73674684	0.92[AFR][1000 genomes]
rs73674685	0.92[AFR][1000 genomes]
rs73674693	0.81[AFR][1000 genomes]

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:38855200-38864600	Weak transcription	Spleen	Spleen
2	chr8:38855800-38881600	Weak transcription	Fetal Kidney	kidney
3	chr8:38856600-38860400	Weak transcription	Gastric	stomach
4	chr8:38856600-38861800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:38856600-38889600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr8:38856800-38859400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr8:38856800-38859600	Weak transcription	Primary B cells from cord blood	blood
8	chr8:38856800-38860200	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr8:38856800-38862000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr8:38856800-38862200	Weak transcription	Aorta	Aorta
11	chr8:38856800-38862400	Weak transcription	Brain Hippocampus Middle	brain
12	chr8:38856800-38865600	Weak transcription	Dnd41	blood
13	chr8:38856800-38866600	Weak transcription	Primary hematopoietic stem cells	blood
14	chr8:38856800-38866600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr8:38856800-38869400	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr8:38856800-38869400	Weak transcription	Liver	Liver
17	chr8:38856800-38874400	Weak transcription	Brain Anterior Caudate	brain
18	chr8:38856800-38889600	Weak transcription	Colonic Mucosa	Colon
19	chr8:38857200-38859200	Enhancers	Colon Smooth Muscle	Colon
20	chr8:38857200-38859200	Enhancers	Stomach Mucosa	stomach
21	chr8:38857200-38859800	Flanking Active TSS	HUVEC	blood vessel
22	chr8:38857200-38881400	Weak transcription	Fetal Brain Female	brain
23	chr8:38857400-38859200	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr8:38857400-38859200	Enhancers	Fetal Lung	lung
25	chr8:38857400-38861000	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr8:38857400-38865600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr8:38857400-38872400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr8:38857600-38859200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr8:38857600-38859600	Enhancers	GM12878-XiMat	blood
30	chr8:38857600-38860200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr8:38857600-38861600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr8:38857600-38861600	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr8:38857600-38862000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr8:38857600-38864400	Weak transcription	Brain Substantia Nigra	brain
35	chr8:38857600-38866400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr8:38857600-38869200	Weak transcription	Brain Angular Gyrus	brain
37	chr8:38857600-38872200	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr8:38857800-38859200	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr8:38857800-38860000	Weak transcription	Fetal Intestine Small	intestine
40	chr8:38857800-38861800	Weak transcription	Right Atrium	heart
41	chr8:38857800-38861800	Weak transcription	Right Ventricle	heart
42	chr8:38857800-38862200	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr8:38857800-38865000	Enhancers	HepG2	liver
44	chr8:38857800-38865600	Weak transcription	Stomach Smooth Muscle	stomach
45	chr8:38857800-38865800	Weak transcription	Fetal Intestine Large	intestine
46	chr8:38858000-38859200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr8:38858000-38859200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr8:38858000-38859400	Enhancers	NHEK	skin
49	chr8:38858000-38859600	Enhancers	Hela-S3	cervix
50	chr8:38858000-38861600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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