Variant report

Variant	rs74126213
Chromosome Location	chr1:172352798-172352799
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	GATA3	chr1:172352742-172353044	T-47D	breast:	n/a	n/a
2	GATA3	chr1:172352679-172353183	SK-N-SH	brain:	n/a	n/a
3	TCF12	chr1:172352587-172353208	SK-N-SH	brain:	n/a	n/a
4	FOXA1	chr1:172352772-172353065	T-47D	breast:	n/a	n/a
5	JUND	chr1:172352696-172353055	SK-N-SH	brain:	n/a	n/a
6	ESR1	chr1:172352733-172353029	T-47D	breast:	n/a	n/a
7	TEAD4	chr1:172352656-172353187	ECC-1	luminal epithelium:	n/a	chr1:172352911-172352920
8	POLR2A	chr1:172352739-172353028	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:172352695..172354230-chr1:172354543..172357309,2	K562	blood:
2	chr1:172345198..172346938-chr1:172350887..172353536,2	K562	blood:
3	chr1:172352277..172354230-chr1:172354543..172356133,2	K562	blood:

Variant related genes	Relation type
PIGC	TF binding region
DNM3	TF binding region
ENSG00000197959	Chromatin interaction

rs_ID	r²[population]
rs16844378	1.00[EUR][1000 genomes]
rs56178710	1.00[EUR][1000 genomes]
rs56214947	1.00[EUR][1000 genomes]
rs58520596	1.00[EUR][1000 genomes]
rs74124060	1.00[EUR][1000 genomes]
rs74124067	1.00[EUR][1000 genomes]
rs74124069	1.00[EUR][1000 genomes]
rs74124070	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74126215	1.00[EUR][1000 genomes]
rs74126216	1.00[EUR][1000 genomes]
rs7517736	1.00[EUR][1000 genomes]
rs7524141	1.00[EUR][1000 genomes]
rs7538342	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172343600-172359800	Weak transcription	Brain Angular Gyrus	brain
2	chr1:172344800-172357800	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr1:172344800-172359000	Weak transcription	Brain Cingulate Gyrus	brain
4	chr1:172346600-172367400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:172347400-172357600	Weak transcription	Brain Substantia Nigra	brain
6	chr1:172348600-172353600	Enhancers	Fetal Lung	lung
7	chr1:172349600-172353600	Enhancers	Fetal Stomach	stomach
8	chr1:172349600-172353800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:172349600-172356400	Enhancers	Fetal Kidney	kidney
10	chr1:172349600-172362000	Weak transcription	Left Ventricle	heart
11	chr1:172349800-172353600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:172349800-172353800	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr1:172349800-172353800	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr1:172349800-172363400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr1:172350000-172354000	Enhancers	Fetal Muscle Leg	muscle
16	chr1:172350200-172353800	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr1:172350400-172353000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:172350400-172353200	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr1:172350400-172353800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr1:172350400-172354400	Weak transcription	Thymus	Thymus
21	chr1:172350400-172357600	Weak transcription	Brain Hippocampus Middle	brain
22	chr1:172350400-172359400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr1:172350400-172362400	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr1:172350400-172362600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr1:172350800-172354200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr1:172351000-172352800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr1:172351000-172353000	Active TSS	Aorta	Aorta
28	chr1:172351000-172353600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr1:172351000-172353600	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr1:172351000-172354000	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr1:172351200-172354000	Enhancers	Placenta Amnion	Placenta Amnion
32	chr1:172351200-172354200	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr1:172351400-172353800	Enhancers	H1 Cell Line	embryonic stem cell
34	chr1:172351400-172353800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr1:172351400-172354000	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr1:172351400-172356800	Weak transcription	Fetal Intestine Small	intestine
37	chr1:172351400-172357800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr1:172351400-172363000	Weak transcription	A549	lung
39	chr1:172351600-172352800	Enhancers	Right Atrium	heart
40	chr1:172351600-172353800	Enhancers	Fetal Heart	heart
41	chr1:172351800-172353400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr1:172351800-172353400	Enhancers	Primary hematopoietic stem cells	blood
43	chr1:172351800-172354200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr1:172351800-172359400	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr1:172351800-172363400	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr1:172352000-172353600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr1:172352000-172353800	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr1:172352000-172353800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr1:172352000-172353800	Enhancers	Muscle Satellite Cultured Cells	--
50	chr1:172352000-172353800	Enhancers	NH-A	brain

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