Variant report

Variant	rs73120300
Chromosome Location	chr1:223407603-223407604
allele	G/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	MAX	chr1:223406579-223407809	HCT-116	colon:	n/a	n/a
2	EGR1	chr1:223406608-223407608	HCT-116	colon:	n/a	chr1:223406663-223406676
3	TEAD4	chr1:223406436-223407813	K562	blood:	n/a	n/a
4	E2F6	chr1:223406507-223407656	K562	blood:	n/a	n/a
5	CBX3	chr1:223406125-223409533	K562	blood:	n/a	n/a
6	MXI1	chr1:223406485-223407698	IMR90	lung:	n/a	n/a
7	MAX	chr1:223406687-223407664	K562	blood:	n/a	n/a
8	BHLHE40	chr1:223406749-223407743	K562	blood:	n/a	n/a
9	JUN	chr1:223406791-223407665	K562	blood:	n/a	chr1:223407081-223407090 chr1:223407468-223407477 chr1:223407285-223407297
10	TRIM28	chr1:223406633-223407666	K562	blood:	n/a	n/a
11	NR2F2	chr1:223406385-223407765	K562	blood:	n/a	n/a
12	CCNT2	chr1:223406830-223407663	K562	blood:	n/a	n/a
13	MAX	chr1:223406637-223407618	HCT-116	colon:	n/a	n/a
14	JUN	chr1:223405277-223407899	K562	blood:	n/a	chr1:223407081-223407090 chr1:223407468-223407477 chr1:223407285-223407297
15	MYC	chr1:223406548-223407693	K562	blood:	n/a	n/a
16	CBX3	chr1:223406613-223407607	HCT-116	colon:	n/a	n/a
17	ZNF143	chr1:223406690-223407697	K562	blood:	n/a	chr1:223407599-223407618 chr1:223406912-223406930
18	ZC3H11A	chr1:223406568-223407622	K562	blood:	n/a	n/a
19	EP300	chr1:223406446-223407818	K562	blood:	n/a	chr1:223407082-223407091 chr1:223407327-223407341 chr1:223407044-223407058
20	CBX3	chr1:223406736-223407703	K562	blood:	n/a	n/a
21	RCOR1	chr1:223406453-223407666	K562	blood:	n/a	n/a
22	MAX	chr1:223406442-223407693	K562	blood:	n/a	n/a
23	CUX1	chr1:223406741-223407716	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:221914156..221916301-chr1:223405599..223408342,2	K562	blood:
2	chr1:223395360..223400819-chr1:223404357..223407646,5	K562	blood:
3	chr1:223405869..223408498-chr1:223417441..223419461,2	K562	blood:
4	chr1:223406203..223407902-chr1:225117204..225118811,2	K562	blood:
5	chr1:223407207..223408761-chr1:223417678..223419679,2	MCF-7	breast:
6	chr1:223400914..223405178-chr1:223405480..223408954,7	K562	blood:
7	chr1:223407302..223409358-chr1:223443045..223444830,2	K562	blood:
8	chr1:223406394..223408655-chr1:223414030..223416080,2	K562	blood:
9	chr1:223407234..223409780-chr1:223410393..223413813,3	K562	blood:
10	chr1:223364711..223366451-chr1:223405602..223407678,2	K562	blood:
11	chr1:223382567..223385980-chr1:223405719..223408418,3	K562	blood:

Variant related genes	Relation type
SUSD4	TF binding region
ENSG00000185842	Chromatin interaction
ENSG00000143507	Chromatin interaction
ENSG00000143502	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1035104	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11485987	0.98[ASN][1000 genomes]
rs851140	0.96[ASN][1000 genomes]
rs851209	0.91[ASN][1000 genomes]
rs851210	0.89[ASN][1000 genomes]
rs851211	0.91[ASN][1000 genomes]
rs851215	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv832659	chr1:223294767-223438487	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223393200-223407800	Weak transcription	Brain Anterior Caudate	brain
2	chr1:223396600-223408200	Weak transcription	Brain Angular Gyrus	brain
3	chr1:223400800-223408800	Enhancers	Fetal Thymus	thymus
4	chr1:223401800-223408400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr1:223401800-223408400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr1:223401800-223408400	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr1:223402000-223408400	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr1:223402200-223408400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr1:223402400-223407800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
10	chr1:223402400-223408400	Enhancers	Thymus	Thymus
11	chr1:223402600-223408400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr1:223402800-223408400	Enhancers	Primary T cells fromperipheralblood	blood
13	chr1:223402800-223408400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:223403000-223408000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:223404000-223408400	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr1:223404200-223408200	Enhancers	HMEC	breast
17	chr1:223404200-223408400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr1:223404200-223408800	Enhancers	Primary T cells from cord blood	blood
19	chr1:223404400-223408400	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr1:223405600-223408000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:223405600-223408200	Enhancers	HSMM	muscle
22	chr1:223405600-223408400	Enhancers	NH-A	brain
23	chr1:223405800-223408000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr1:223406000-223407800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr1:223406000-223407800	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr1:223406000-223408000	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr1:223406200-223407800	Enhancers	Placenta Amnion	Placenta Amnion
28	chr1:223406200-223407800	Enhancers	Right Atrium	heart
29	chr1:223406200-223408000	Enhancers	Osteobl	bone
30	chr1:223406200-223408400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr1:223406400-223407800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr1:223406400-223407800	Enhancers	Gastric	stomach
33	chr1:223406400-223407800	Enhancers	Stomach Mucosa	stomach
34	chr1:223406400-223407800	Enhancers	HUVEC	blood vessel
35	chr1:223406400-223407800	Enhancers	NHLF	lung
36	chr1:223406400-223408000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr1:223406400-223408000	Flanking Active TSS	K562	blood
38	chr1:223406800-223407800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr1:223406800-223407800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr1:223406800-223407800	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr1:223406800-223407800	Enhancers	Adipose Nuclei	Adipose
42	chr1:223406800-223407800	Enhancers	Fetal Heart	heart
43	chr1:223406800-223407800	Enhancers	Fetal Intestine Small	intestine
44	chr1:223406800-223407800	Enhancers	Right Ventricle	heart
45	chr1:223406800-223408000	Enhancers	Left Ventricle	heart
46	chr1:223407400-223407800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr1:223407400-223408200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr1:223407400-223408200	Enhancers	NHEK	skin
49	chr1:223407600-223407800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr1:223407600-223407800	Enhancers	Hela-S3	cervix

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