Variant report

Variant	rs985300
Chromosome Location	chr1:224716765-224716766
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	TCF12	chr1:224716406-224717291	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr1:224716540-224717065	HUVEC	blood vessel:	n/a	n/a
3	JUND	chr1:224716726-224716884	HepG2	liver:	n/a	chr1:224716819-224716831 chr1:224716820-224716829 chr1:224716822-224716829 chr1:224716819-224716830 chr1:224716817-224716828
4	RCOR1	chr1:224716604-224717017	K562	blood:	n/a	n/a
5	FOSL1	chr1:224716693-224716896	K562	blood:	n/a	chr1:224716819-224716831 chr1:224716820-224716829 chr1:224716822-224716829 chr1:224716817-224716828 chr1:224716819-224716830
6	JUN	chr1:224716619-224717033	K562	blood:	n/a	chr1:224716819-224716831 chr1:224716820-224716829 chr1:224716822-224716829 chr1:224716817-224716828
7	NFIC	chr1:224716477-224717292	SK-N-SH	brain:	n/a	n/a
8	JUND	chr1:224716661-224716930	HepG2	liver:	n/a	chr1:224716819-224716831 chr1:224716820-224716829 chr1:224716822-224716829 chr1:224716819-224716830 chr1:224716817-224716828
9	SETDB1	chr1:224716640-224717091	U2OS	brain:	n/a	n/a
10	MAX	chr1:224716565-224716828	NB4	blood:	n/a	chr1:224716667-224716677
11	JUN	chr1:224716659-224717007	K562	blood:	n/a	chr1:224716819-224716831 chr1:224716820-224716829 chr1:224716822-224716829 chr1:224716817-224716828
12	USF1	chr1:224716549-224717043	SK-N-SH	brain:	n/a	chr1:224716830-224716841
13	JUND	chr1:224716720-224716887	H1-hESC	embryonic stem cell:	n/a	chr1:224716819-224716831 chr1:224716820-224716829 chr1:224716822-224716829 chr1:224716819-224716830 chr1:224716817-224716828
14	USF1	chr1:224716546-224717018	HCT-116	colon:	n/a	chr1:224716830-224716841
15	ZBTB7A	chr1:224716675-224716887	K562	blood:	n/a	n/a
16	JUN	chr1:224716734-224717028	HepG2	liver:	n/a	chr1:224716819-224716831 chr1:224716820-224716829 chr1:224716822-224716829 chr1:224716817-224716828
17	REST	chr1:224716614-224717052	PFSK-1	brain:	n/a	chr1:224716783-224716796 chr1:224716786-224716799
18	ATF3	chr1:224716739-224716903	K562	blood:	n/a	n/a
19	ATF1	chr1:224716670-224716955	K562	blood:	n/a	n/a
20	EP300	chr1:224716435-224717304	SK-N-SH	brain:	n/a	chr1:224716820-224716829
21	ELF1	chr1:224716570-224717007	K562	blood:	n/a	n/a
22	EP300	chr1:224716647-224716990	K562	blood:	n/a	chr1:224716820-224716829
23	MAX	chr1:224716693-224716953	K562	blood:	n/a	n/a
24	NR2F2	chr1:224716617-224716957	K562	blood:	n/a	n/a
25	POLR2A	chr1:224716651-224717001	PFSK-1	brain:	n/a	n/a
26	TAF1	chr1:224716705-224716920	SK-N-SH	brain:	n/a	n/a
27	JUND	chr1:224716565-224717046	K562	blood:	n/a	chr1:224716819-224716831 chr1:224716820-224716829 chr1:224716822-224716829 chr1:224716819-224716830 chr1:224716817-224716828
28	FOS	chr1:224716669-224717011	MCF10A-Er-Src	breast:	n/a	chr1:224716819-224716831 chr1:224716820-224716829 chr1:224716822-224716829 chr1:224716819-224716830 chr1:224716817-224716828
29	FOSL2	chr1:224716706-224716904	A549	lung:	n/a	chr1:224716818-224716829 chr1:224716819-224716831 chr1:224716820-224716829 chr1:224716822-224716829 chr1:224716817-224716828
30	GATA3	chr1:224716418-224717369	SK-N-SH	brain:	n/a	n/a
31	GABPA	chr1:224716638-224716857	K562	blood:	n/a	n/a
32	GATA2	chr1:224716620-224717088	HUVEC	blood vessel:	n/a	n/a
33	FOSL2	chr1:224716580-224716958	HepG2	liver:	n/a	chr1:224716818-224716829 chr1:224716819-224716831 chr1:224716820-224716829 chr1:224716822-224716829 chr1:224716817-224716828
34	JUND	chr1:224716673-224716987	HepG2	liver:	n/a	chr1:224716819-224716831 chr1:224716820-224716829 chr1:224716822-224716829 chr1:224716819-224716830 chr1:224716817-224716828
35	GATA3	chr1:224716688-224717076	MCF-7	breast:	n/a	n/a
36	TEAD4	chr1:224716615-224717031	K562	blood:	n/a	n/a
37	USF1	chr1:224716595-224717019	H1-hESC	embryonic stem cell:	n/a	chr1:224716830-224716841
38	USF1	chr1:224716577-224716982	SK-N-SH_RA	brain:	n/a	chr1:224716830-224716841
39	POLR2A	chr1:224716613-224717032	SK-N-SH	brain:	n/a	n/a
40	FOSL2	chr1:224716504-224717187	SK-N-SH	brain:	n/a	chr1:224716818-224716829 chr1:224716819-224716831 chr1:224716820-224716829 chr1:224716822-224716829 chr1:224716817-224716828
41	JUND	chr1:224716500-224717081	SK-N-SH	brain:	n/a	chr1:224716819-224716831 chr1:224716820-224716829 chr1:224716822-224716829 chr1:224716819-224716830 chr1:224716817-224716828
42	ZNF143	chr1:224716744-224716882	K562	blood:	n/a	n/a
43	GATA3	chr1:224716481-224717312	SK-N-SH	brain:	n/a	n/a
44	JUN	chr1:224716630-224717005	K562	blood:	n/a	chr1:224716819-224716831 chr1:224716820-224716829 chr1:224716822-224716829 chr1:224716817-224716828
45	FOSL2	chr1:224716612-224716976	HepG2	liver:	n/a	chr1:224716818-224716829 chr1:224716819-224716831 chr1:224716820-224716829 chr1:224716822-224716829 chr1:224716817-224716828
46	BHLHE40	chr1:224716707-224716939	K562	blood:	n/a	n/a
47	FOXP2	chr1:224716673-224716925	PFSK-1	brain:	n/a	n/a
48	KAP1	chr1:224716551-224717061	U2OS	brain:	n/a	n/a
49	RCOR1	chr1:224716677-224716939	K562	blood:	n/a	n/a
50	ZMIZ1	chr1:224716677-224716856	K562	blood:	n/a	n/a

Variant related genes	Relation type
CNIH3	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1499295	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2786562	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6659109	0.85[AFR][1000 genomes]
rs6687424	0.85[AFR][1000 genomes]
rs698279	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74146372	0.85[AFR][1000 genomes]
rs74146374	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv8868	chr1:224383023-224752531	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1014717	chr1:224551939-224885543	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv535311	chr1:224551939-224885543	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224694200-224717600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:224694200-224727600	Weak transcription	Brain Anterior Caudate	brain
3	chr1:224711200-224720400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:224712000-224730800	Weak transcription	Spleen	Spleen
5	chr1:224713400-224721400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:224713800-224716800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:224715000-224716800	Weak transcription	Fetal Brain Male	brain
8	chr1:224716200-224718000	Enhancers	HUVEC	blood vessel
9	chr1:224716400-224717200	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr1:224716400-224717800	Enhancers	NHDF-Ad	bronchial
11	chr1:224716400-224717800	Enhancers	Osteobl	bone
12	chr1:224716400-224718000	Enhancers	HMEC	breast
13	chr1:224716400-224718000	Enhancers	NHLF	lung
14	chr1:224716400-224718200	Enhancers	HSMM	muscle
15	chr1:224716600-224716800	Enhancers	H1 Cell Line	embryonic stem cell
16	chr1:224716600-224716800	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr1:224716600-224716800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:224716600-224716800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
19	chr1:224716600-224716800	Enhancers	Ovary	ovary
20	chr1:224716600-224716800	Enhancers	Right Atrium	heart
21	chr1:224716600-224716800	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr1:224716600-224716800	Flanking Active TSS	K562	blood
23	chr1:224716600-224717000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr1:224716600-224717000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr1:224716600-224717000	Enhancers	Brain Angular Gyrus	brain
26	chr1:224716600-224717000	Enhancers	Fetal Lung	lung
27	chr1:224716600-224717000	Enhancers	Fetal Muscle Leg	muscle
28	chr1:224716600-224717000	Enhancers	Fetal Stomach	stomach
29	chr1:224716600-224717200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr1:224716600-224717200	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr1:224716600-224717200	Enhancers	A549	lung
32	chr1:224716600-224717200	Enhancers	Hela-S3	cervix
33	chr1:224716600-224717400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:224716600-224717400	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr1:224716600-224717400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr1:224716600-224717400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr1:224716600-224717400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr1:224716600-224717400	Enhancers	Lung	lung
39	chr1:224716600-224717600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr1:224716600-224717600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr1:224716600-224717600	Enhancers	NHEK	skin
42	chr1:224716600-224717800	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr1:224716600-224717800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr1:224716600-224717800	Enhancers	Dnd41	blood
45	chr1:224716600-224717800	Enhancers	HSMMtube	muscle
46	chr1:224716600-224717800	Enhancers	NH-A	brain
47	chr1:224716600-224718000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr1:224716600-224718000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr1:224716600-224718000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr1:224716600-224718000	Enhancers	Pancreas	Pancrea

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