Variant report

Variant	rs1416620
Chromosome Location	chr1:216897131-216897132
allele	C/T
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	MYC	chr1:216896815-216897156	H1-hESC	embryonic stem cell:	n/a	n/a
2	REST	chr1:216895874-216897568	H1-neurons	neurons:	n/a	chr1:216896148-216896156
3	KAP1	chr1:216896192-216897220	U2OS	brain:	n/a	n/a
4	POLR2A	chr1:216896600-216897231	H1-neurons	neurons:	n/a	n/a
5	CHD1	chr1:216897026-216897296	H1-hESC	embryonic stem cell:	n/a	n/a
6	KAP1	chr1:216896156-216897437	HEK293	kidney:	n/a	n/a
7	POLR2A	chr1:216895880-216897137	H1-neurons	neurons:	n/a	n/a
8	MXI1	chr1:216892864-216898055	SK-N-SH	brain:	n/a	n/a
9	BRCA1	chr1:216897021-216897217	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr1:216896508-216897181	H1-hESC	embryonic stem cell:	n/a	n/a
11	ZNF143	chr1:216896706-216897140	H1-hESC	embryonic stem cell:	n/a	n/a
12	SIN3A	chr1:216896203-216897193	H1-hESC	embryonic stem cell:	n/a	chr1:216896852-216896863

Variant related genes	Relation type
ESRRG	TF binding region

rs_ID	r²[population]
rs11117658	0.82[ASW][hapmap];1.00[MEX][hapmap]
rs11572653	0.88[CEU][hapmap];0.85[JPT][hapmap];0.81[EUR][1000 genomes]
rs11572745	0.82[ASW][hapmap]
rs11580756	1.00[ASW][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap]
rs12737688	0.89[CEU][hapmap];0.85[JPT][hapmap];0.81[EUR][1000 genomes]
rs12757183	0.93[CEU][hapmap];0.84[JPT][hapmap];0.81[EUR][1000 genomes]
rs1339343	0.82[ASW][hapmap]
rs1339352	0.83[GIH][hapmap]
rs17627954	0.85[MEX][hapmap]
rs17679272	0.82[ASW][hapmap];0.85[MEX][hapmap]
rs1833039	0.82[ASW][hapmap]
rs2813704	0.83[GIH][hapmap]
rs34000440	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35539124	0.84[ASN][1000 genomes]
rs4259728	1.00[ASW][hapmap];0.85[MEX][hapmap]
rs871557	0.83[GIH][hapmap]

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:216891600-216897400	Active TSS	Right Atrium	heart
2	chr1:216893800-216897800	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr1:216894000-216897400	Active TSS	Left Ventricle	heart
4	chr1:216894000-216897800	Active TSS	Placenta	Placenta
5	chr1:216894200-216897600	Active TSS	Fetal Heart	heart
6	chr1:216894600-216897600	Active TSS	Skeletal Muscle Male	skeletal muscle
7	chr1:216894800-216897400	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr1:216895000-216897400	Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr1:216895200-216897400	Active TSS	Gastric	stomach
10	chr1:216895400-216897600	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr1:216895400-216897800	Active TSS	Fetal Intestine Small	intestine
12	chr1:216895600-216897400	Active TSS	Rectal Mucosa Donor 31	rectum
13	chr1:216896000-216897600	Active TSS	Psoas Muscle	Psoas
14	chr1:216896000-216897800	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr1:216896000-216897800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
16	chr1:216896000-216897800	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr1:216896200-216897400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:216896200-216897400	Active TSS	H9 Cell Line	embryonic stem cell
19	chr1:216896200-216897400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr1:216896200-216897400	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr1:216896200-216897400	Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr1:216896200-216897400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:216896200-216897400	Bivalent/Poised TSS	NH-A	brain
24	chr1:216896200-216897600	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr1:216896200-216897600	Active TSS	H1 Cell Line	embryonic stem cell
26	chr1:216896200-216897600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
27	chr1:216896200-216897600	Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr1:216896200-216897600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
29	chr1:216896200-216897600	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr1:216896200-216897600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr1:216896200-216897800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:216896200-216897800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr1:216896200-216897800	Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr1:216896400-216897200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
35	chr1:216896400-216897200	Bivalent/Poised TSS	NHEK	skin
36	chr1:216896400-216897200	Bivalent/Poised TSS	NHLF	lung
37	chr1:216896400-216897400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
38	chr1:216896400-216897400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr1:216896400-216897400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr1:216896400-216897400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr1:216896400-216897400	Active TSS	Brain Angular Gyrus	brain
42	chr1:216896400-216897400	Active TSS	Brain Cingulate Gyrus	brain
43	chr1:216896400-216897400	Active TSS	Colon Smooth Muscle	Colon
44	chr1:216896400-216897400	Bivalent/Poised TSS	Fetal Kidney	kidney
45	chr1:216896400-216897400	Bivalent/Poised TSS	Fetal Lung	lung
46	chr1:216896400-216897400	Bivalent/Poised TSS	Thymus	Thymus
47	chr1:216896400-216897600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr1:216896400-216897600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr1:216896400-216897600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr1:216896400-216897600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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