Variant report

Variant	rs17024343
Chromosome Location	chr1:120359202-120359203
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	MAX	chr1:120359048-120359577	HepG2	liver:	n/a	chr1:120359365-120359384 chr1:120359369-120359380 chr1:120359370-120359379 chr1:120359368-120359378 chr1:120359265-120359274
2	EP300	chr1:120358944-120359429	HepG2	liver:	n/a	chr1:120359257-120359271 chr1:120359265-120359274
3	MYC	chr1:120359123-120359519	K562	blood:	n/a	chr1:120359365-120359384 chr1:120359369-120359380 chr1:120359370-120359379 chr1:120359368-120359378 chr1:120359265-120359274
4	MYBL2	chr1:120359015-120359447	HepG2	liver:	n/a	n/a
5	JUND	chr1:120359071-120359423	HepG2	liver:	n/a	chr1:120359265-120359275 chr1:120359265-120359275 chr1:120359260-120359269 chr1:120359265-120359275 chr1:120359266-120359275 chr1:120359265-120359275 chr1:120359264-120359275
6	CUX1	chr1:120359118-120359538	K562	blood:	n/a	n/a
7	HEY1	chr1:120359100-120359509	HepG2	liver:	n/a	chr1:120359370-120359379
8	ARID3A	chr1:120358759-120359483	HepG2	liver:	n/a	n/a
9	MXI1	chr1:120359056-120359497	HepG2	liver:	n/a	chr1:120359369-120359378
10	JUN	chr1:120359079-120359389	HepG2	liver:	n/a	chr1:120359265-120359275 chr1:120359265-120359275 chr1:120359260-120359269 chr1:120359265-120359275 chr1:120359266-120359275 chr1:120359265-120359275
11	FOXA1	chr1:120359005-120359437	HepG2	liver:	n/a	n/a
12	EP300	chr1:120359020-120359473	HepG2	liver:	n/a	chr1:120359257-120359271 chr1:120359265-120359274
13	FOS	chr1:120359144-120359344	MCF10A-Er-Src	breast:	n/a	chr1:120359265-120359275 chr1:120359264-120359275 chr1:120359265-120359275 chr1:120359260-120359269 chr1:120359265-120359275 chr1:120359266-120359275 chr1:120359265-120359275
14	MYBL2	chr1:120358853-120359562	HepG2	liver:	n/a	n/a
15	TCF12	chr1:120359023-120359534	SK-N-SH	brain:	n/a	chr1:120359327-120359337
16	EP300	chr1:120359078-120359486	K562	blood:	n/a	chr1:120359257-120359271 chr1:120359265-120359274
17	EP300	chr1:120359086-120359386	SK-N-SH_RA	brain:	n/a	chr1:120359257-120359271 chr1:120359265-120359274
18	FOSL2	chr1:120359048-120359507	HepG2	liver:	n/a	chr1:120359265-120359275 chr1:120359265-120359276 chr1:120359265-120359275 chr1:120359260-120359269 chr1:120359265-120359275 chr1:120359266-120359275 chr1:120359265-120359275
19	EP300	chr1:120359057-120359425	SK-N-SH_RA	brain:	n/a	chr1:120359257-120359271 chr1:120359265-120359274
20	FOXA1	chr1:120358921-120359424	HepG2	liver:	n/a	n/a
21	FOSL2	chr1:120359014-120359359	A549	lung:	n/a	chr1:120359265-120359275 chr1:120359265-120359276 chr1:120359265-120359275 chr1:120359260-120359269 chr1:120359265-120359275 chr1:120359266-120359275 chr1:120359265-120359275
22	FOS	chr1:120359091-120359431	HUVEC	blood vessel:	n/a	chr1:120359265-120359275 chr1:120359264-120359275 chr1:120359265-120359275 chr1:120359260-120359269 chr1:120359265-120359275 chr1:120359266-120359275 chr1:120359265-120359275
23	GATA3	chr1:120358962-120359466	SK-N-SH	brain:	n/a	chr1:120359259-120359269
24	FOS	chr1:120359096-120359410	MCF10A-Er-Src	breast:	n/a	chr1:120359265-120359275 chr1:120359264-120359275 chr1:120359265-120359275 chr1:120359260-120359269 chr1:120359265-120359275 chr1:120359266-120359275 chr1:120359265-120359275
25	HNF4A	chr1:120359034-120359333	HepG2	liver:	n/a	chr1:120359154-120359169 chr1:120359154-120359169 chr1:120359154-120359169 chr1:120359155-120359163 chr1:120359155-120359168 chr1:120359153-120359161 chr1:120359155-120359169 chr1:120359154-120359169 chr1:120359156-120359168 chr1:120359156-120359168 chr1:120359155-120359169 chr1:120359156-120359169 chr1:120359156-120359168 chr1:120359156-120359168 chr1:120359153-120359171
26	EP300	chr1:120359075-120359362	HepG2	liver:	n/a	chr1:120359257-120359271 chr1:120359265-120359274
27	NFIC	chr1:120358724-120359671	HepG2	liver:	n/a	n/a
28	SP1	chr1:120358945-120359495	HepG2	liver:	n/a	n/a
29	JUND	chr1:120359089-120359505	K562	blood:	n/a	chr1:120359265-120359275 chr1:120359265-120359275 chr1:120359260-120359269 chr1:120359265-120359275 chr1:120359266-120359275 chr1:120359265-120359275 chr1:120359264-120359275
30	JUND	chr1:120359105-120359408	HepG2	liver:	n/a	chr1:120359265-120359275 chr1:120359265-120359275 chr1:120359260-120359269 chr1:120359265-120359275 chr1:120359266-120359275 chr1:120359265-120359275 chr1:120359264-120359275
31	MAX	chr1:120358938-120359674	HepG2	liver:	n/a	chr1:120359365-120359384 chr1:120359369-120359380 chr1:120359370-120359379 chr1:120359582-120359592 chr1:120359368-120359378 chr1:120359265-120359274
32	JUND	chr1:120358986-120359539	SK-N-SH	brain:	n/a	chr1:120359265-120359275 chr1:120359265-120359275 chr1:120359260-120359269 chr1:120359265-120359275 chr1:120359266-120359275 chr1:120359265-120359275 chr1:120359264-120359275
33	MYC	chr1:120359159-120359439	NB4	blood:	n/a	chr1:120359365-120359384 chr1:120359369-120359380 chr1:120359370-120359379 chr1:120359368-120359378 chr1:120359265-120359274
34	JUN	chr1:120359071-120359442	K562	blood:	n/a	chr1:120359265-120359275 chr1:120359265-120359275 chr1:120359260-120359269 chr1:120359265-120359275 chr1:120359266-120359275 chr1:120359265-120359275
35	FOS	chr1:120359091-120359419	MCF10A-Er-Src	breast:	n/a	chr1:120359265-120359275 chr1:120359264-120359275 chr1:120359265-120359275 chr1:120359260-120359269 chr1:120359265-120359275 chr1:120359266-120359275 chr1:120359265-120359275
36	RCOR1	chr1:120358952-120359254	HepG2	liver:	n/a	n/a
37	HNF4A	chr1:120358980-120359340	HepG2	liver:	n/a	chr1:120359154-120359169 chr1:120359154-120359169 chr1:120359154-120359169 chr1:120359155-120359163 chr1:120359155-120359168 chr1:120359153-120359161 chr1:120359155-120359169 chr1:120359154-120359169 chr1:120359156-120359168 chr1:120359156-120359168 chr1:120359155-120359169 chr1:120359156-120359169 chr1:120359156-120359168 chr1:120359156-120359168 chr1:120359153-120359171
38	MBD4	chr1:120358924-120359452	HepG2	liver:	n/a	n/a
39	MAZ	chr1:120359018-120359239	HepG2	liver:	n/a	n/a
40	NFIC	chr1:120359073-120359459	HepG2	liver:	n/a	n/a
41	FOSL2	chr1:120359061-120359527	HepG2	liver:	n/a	chr1:120359265-120359275 chr1:120359265-120359276 chr1:120359265-120359275 chr1:120359260-120359269 chr1:120359265-120359275 chr1:120359266-120359275 chr1:120359265-120359275
42	FOXA2	chr1:120359042-120359359	HepG2	liver:	n/a	n/a
43	JUND	chr1:120359051-120359382	HepG2	liver:	n/a	chr1:120359265-120359275 chr1:120359265-120359275 chr1:120359260-120359269 chr1:120359265-120359275 chr1:120359266-120359275 chr1:120359265-120359275 chr1:120359264-120359275
44	ATF1	chr1:120359097-120359796	K562	blood:	n/a	n/a
45	FOXA1	chr1:120358904-120359487	HepG2	liver:	n/a	n/a
46	MAX	chr1:120359138-120359480	K562	blood:	n/a	chr1:120359365-120359384 chr1:120359369-120359380 chr1:120359370-120359379 chr1:120359368-120359378 chr1:120359265-120359274
47	HDAC2	chr1:120359008-120359473	HepG2	liver:	n/a	chr1:120359092-120359106
48	HNF4G	chr1:120359025-120359367	HepG2	liver:	n/a	chr1:120359154-120359169 chr1:120359154-120359169 chr1:120359155-120359163 chr1:120359155-120359168 chr1:120359155-120359170 chr1:120359153-120359161 chr1:120359155-120359169 chr1:120359154-120359169 chr1:120359156-120359168 chr1:120359156-120359168 chr1:120359155-120359169 chr1:120359156-120359169 chr1:120359156-120359168 chr1:120359156-120359168 chr1:120359153-120359171
49	SMC3	chr1:120359097-120359461	HepG2	liver:	n/a	n/a
50	EGR1	chr1:120359185-120359460	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:120358099..120360727-chr1:144531568..144534050,2	K562	blood:
2	chr1:120333977..120336154-chr1:120357521..120360172,2	MCF-7	breast:

Variant related genes	Relation type
REG4	TF binding region
ENSG00000201699	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11799473	0.83[AFR][1000 genomes]
rs11800564	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11802228	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11812072	1.00[ASW][hapmap];0.89[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6668776	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6687952	0.89[YRI][hapmap]
rs7516981	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7544723	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7551999	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932014	chr1:119476480-120471049	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv1000939	chr1:119983342-120471049	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv831215	chr1:120266449-120448469	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv428201	chr1:120267313-120697156	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	esv2757750	chr1:120267313-121226013	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	esv2758965	chr1:120267313-121226013	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	nsv915933	chr1:120323527-120471049	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv831226	chr1:120331599-120471049	Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
9	nsv947316	chr1:120355309-120362730	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120356600-120361200	Enhancers	Fetal Intestine Small	intestine
2	chr1:120356800-120359600	Enhancers	Stomach Mucosa	stomach
3	chr1:120356800-120359800	Enhancers	HMEC	breast
4	chr1:120356800-120361000	Enhancers	Fetal Intestine Large	intestine
5	chr1:120356800-120361200	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr1:120357000-120359400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:120357000-120359600	Enhancers	HSMM	muscle
8	chr1:120357000-120359800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:120357000-120359800	Enhancers	NHEK	skin
10	chr1:120357000-120360800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr1:120357200-120361000	Enhancers	HepG2	liver
12	chr1:120357600-120359600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:120357600-120359600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:120357800-120359400	Enhancers	NH-A	brain
15	chr1:120357800-120359800	Enhancers	K562	blood
16	chr1:120358200-120359600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:120358200-120359600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr1:120358200-120359600	Enhancers	Osteobl	bone
19	chr1:120358400-120359600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:120358400-120360200	Enhancers	Duodenum Mucosa	Duodenum
21	chr1:120358600-120359400	Enhancers	NHLF	lung
22	chr1:120358600-120359800	Enhancers	Muscle Satellite Cultured Cells	--
23	chr1:120358800-120360800	Enhancers	Liver	Liver
24	chr1:120359000-120359400	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr1:120359000-120359800	Enhancers	Fetal Heart	heart
26	chr1:120359000-120361000	Enhancers	Rectal Mucosa Donor 29	rectum
27	chr1:120359000-120372200	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr1:120359200-120359600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr1:120359200-120359600	Bivalent Enhancer	NHDF-Ad	bronchial

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