Variant report

Variant	rs73397795
Chromosome Location	chr22:29143274-29143275
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	POLR2A	chr22:29142496-29143834	HepG2	liver:	n/a	n/a
2	MYBL2	chr22:29142891-29143640	HepG2	liver:	n/a	n/a
3	MXI1	chr22:29143222-29143570	HepG2	liver:	n/a	n/a
4	RXRA	chr22:29143130-29143533	HepG2	liver:	n/a	n/a
5	HNF4G	chr22:29143025-29143505	HepG2	liver:	n/a	n/a
6	EP300	chr22:29142925-29143521	HepG2	liver:	n/a	n/a
7	NFIC	chr22:29142893-29143657	HepG2	liver:	n/a	n/a
8	HDAC2	chr22:29143108-29143598	HepG2	liver:	n/a	n/a
9	TEAD4	chr22:29142898-29143615	HepG2	liver:	n/a	n/a
10	HNF4A	chr22:29142897-29143555	HepG2	liver:	n/a	n/a
11	NFIC	chr22:29143197-29143580	HepG2	liver:	n/a	n/a
12	ARID3A	chr22:29143002-29143586	HepG2	liver:	n/a	n/a
13	FOXA1	chr22:29142889-29143616	HepG2	liver:	n/a	n/a
14	POLR2A	chr22:29142936-29143693	HepG2	liver:	n/a	n/a
15	CEBPB	chr22:29143195-29143500	HepG2	liver:	n/a	chr22:29143345-29143356
16	CEBPB	chr22:29142920-29143581	HepG2	liver:	n/a	chr22:29143345-29143356
17	HDAC2	chr22:29143095-29143631	HepG2	liver:	n/a	n/a
18	MBD4	chr22:29142933-29143450	HepG2	liver:	n/a	n/a
19	MYBL2	chr22:29142724-29143561	HepG2	liver:	n/a	n/a
20	FOXA1	chr22:29143102-29143652	HepG2	liver:	n/a	n/a
21	FOXA1	chr22:29142889-29143509	HepG2	liver:	n/a	n/a
22	CEBPB	chr22:29143159-29143565	HepG2	liver:	n/a	chr22:29143345-29143356
23	POLR2A	chr22:29143122-29143333	MCF-7	breast:	n/a	n/a
24	EP300	chr22:29142813-29143690	HepG2	liver:	n/a	n/a
25	HNF4A	chr22:29142899-29143588	HepG2	liver:	n/a	n/a
26	CEBPB	chr22:29143085-29143555	HepG2	liver:	n/a	chr22:29143345-29143356
27	CEBPD	chr22:29143216-29143608	HepG2	liver:	n/a	n/a
28	HNF4G	chr22:29142968-29143559	HepG2	liver:	n/a	n/a
29	SP1	chr22:29142801-29143680	HepG2	liver:	n/a	n/a
30	FOXA2	chr22:29142907-29143537	HepG2	liver:	n/a	n/a
31	CEBPD	chr22:29143240-29143452	HepG2	liver:	n/a	n/a
32	FOXA1	chr22:29142838-29143557	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
CHEK2	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs56662554	1.00[AMR][1000 genomes]
rs58174942	1.00[AMR][1000 genomes]
rs59677997	1.00[AMR][1000 genomes]
rs61162472	1.00[AMR][1000 genomes]
rs61262861	1.00[AMR][1000 genomes]
rs7286589	1.00[AMR][1000 genomes]
rs73388832	1.00[AMR][1000 genomes]
rs73388848	1.00[AMR][1000 genomes]
rs73388889	1.00[AMR][1000 genomes]
rs73395867	1.00[AMR][1000 genomes]
rs73397802	1.00[AMR][1000 genomes]
rs73399604	1.00[AMR][1000 genomes]
rs73399643	1.00[AMR][1000 genomes]
rs73403430	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916473	chr22:28837041-29215603	Weak transcription Bivalent Enhancer Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers 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	83 gene(s)	inside rSNPs	diseases
2	nsv9895	chr22:29029961-29184277	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv1064079	chr22:29065528-29456059	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
4	nsv834169	chr22:29095446-29303929	Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29139000-29143400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr22:29139200-29144400	Weak transcription	Right Ventricle	heart
3	chr22:29139200-29146000	Weak transcription	Fetal Brain Male	brain
4	chr22:29139200-29153800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr22:29139400-29143400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr22:29139400-29144200	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr22:29139400-29145000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr22:29139400-29145600	Strong transcription	HSMM	muscle
9	chr22:29139400-29149400	Strong transcription	Fetal Muscle Trunk	muscle
10	chr22:29139400-29156400	Weak transcription	Stomach Mucosa	stomach
11	chr22:29139600-29144000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr22:29139600-29144600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr22:29139600-29144600	Strong transcription	Skeletal Muscle Male	skeletal muscle
14	chr22:29139600-29145800	Strong transcription	Fetal Thymus	thymus
15	chr22:29139600-29146400	Weak transcription	NHLF	lung
16	chr22:29139600-29146800	Strong transcription	Primary T cells from cord blood	blood
17	chr22:29139600-29148200	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr22:29139600-29148600	Strong transcription	Skeletal Muscle Female	skeletal muscle
19	chr22:29139600-29149600	Weak transcription	K562	blood
20	chr22:29139800-29143400	Weak transcription	NHEK	skin
21	chr22:29139800-29143600	Strong transcription	Thymus	Thymus
22	chr22:29139800-29143800	Strong transcription	Primary T helper cells PMA-I stimulated	--
23	chr22:29139800-29144200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr22:29139800-29144200	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr22:29139800-29144200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr22:29139800-29144400	Strong transcription	Brain Hippocampus Middle	brain
27	chr22:29139800-29144400	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr22:29139800-29144600	Strong transcription	Primary B cells from peripheral blood	blood
29	chr22:29139800-29144600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr22:29139800-29144600	Strong transcription	Dnd41	blood
31	chr22:29139800-29144800	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr22:29139800-29145200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr22:29139800-29145200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr22:29139800-29145400	Strong transcription	Left Ventricle	heart
35	chr22:29139800-29145800	Strong transcription	Brain Inferior Temporal Lobe	brain
36	chr22:29139800-29145800	Strong transcription	Stomach Smooth Muscle	stomach
37	chr22:29139800-29146000	Strong transcription	Brain Anterior Caudate	brain
38	chr22:29139800-29146000	Strong transcription	Fetal Lung	lung
39	chr22:29139800-29146200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr22:29139800-29146600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr22:29139800-29146800	Strong transcription	Fetal Intestine Large	intestine
42	chr22:29139800-29147400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr22:29139800-29147400	Strong transcription	Duodenum Smooth Muscle	Duodenum
44	chr22:29139800-29147600	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr22:29139800-29147800	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr22:29139800-29147800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr22:29139800-29147800	Strong transcription	Lung	lung
48	chr22:29139800-29148200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
49	chr22:29139800-29148200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr22:29139800-29148400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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