Variant report

Variant	rs2357473
Chromosome Location	chr2:10417861-10417862
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	chr2:10417443-10419517	HepG2	liver:	n/a	chr2:10418653-10418662 chr2:10418651-10418664 chr2:10418652-10418662 chr2:10418651-10418661 chr2:10418653-10418663 chr2:10418653-10418663 chr2:10418651-10418666 chr2:10418651-10418664 chr2:10418654-10418661 chr2:10418653-10418662 chr2:10418652-10418663 chr2:10418651-10418664 chr2:10418652-10418663 chr2:10418654-10418663
2	HEY1	chr2:10417854-10419332	HepG2	liver:	n/a	n/a
3	HNF4A	chr2:10417858-10418883	HepG2	liver:	n/a	chr2:10417994-10418009
4	MYBL2	chr2:10417603-10419285	HepG2	liver:	n/a	n/a
5	RAD21	chr2:10417729-10418764	HepG2	liver:	n/a	chr2:10417831-10417850 chr2:10417960-10417974 chr2:10418056-10418068
6	HNF4G	chr2:10417798-10418918	HepG2	liver:	n/a	n/a
7	TAF1	chr2:10417779-10418947	HepG2	liver:	n/a	n/a
8	HNF4G	chr2:10417728-10418758	HepG2	liver:	n/a	n/a
9	RAD21	chr2:10417727-10418484	HepG2	liver:	n/a	chr2:10417831-10417850 chr2:10417960-10417974 chr2:10418056-10418068
10	POLR2A	chr2:10417709-10417894	MCF-7	breast:	n/a	n/a
11	MAZ	chr2:10417825-10419170	HepG2	liver:	n/a	chr2:10418653-10418662 chr2:10418651-10418664 chr2:10418652-10418662 chr2:10418653-10418663 chr2:10418653-10418663 chr2:10418651-10418666 chr2:10418651-10418664 chr2:10418654-10418661 chr2:10418653-10418662 chr2:10418652-10418663 chr2:10418651-10418664 chr2:10418652-10418663 chr2:10418654-10418663
12	HNF4A	chr2:10417635-10418938	HepG2	liver:	n/a	chr2:10417994-10418009
13	MYBL2	chr2:10417756-10419037	HepG2	liver:	n/a	n/a
14	CTCF	chr2:10417811-10418089	HepG2	liver:	n/a	chr2:10417830-10417848 chr2:10418053-10418066
15	RAD21	chr2:10417843-10418103	HepG2	liver:	n/a	chr2:10417960-10417974 chr2:10418056-10418068
16	HDAC2	chr2:10417757-10419307	HepG2	liver:	n/a	chr2:10418564-10418578
17	MAX	chr2:10417440-10419631	HepG2	liver:	n/a	chr2:10418653-10418662 chr2:10418651-10418664 chr2:10418652-10418662 chr2:10418651-10418661 chr2:10418653-10418663 chr2:10418653-10418663 chr2:10418651-10418666 chr2:10418651-10418664 chr2:10418654-10418661 chr2:10418653-10418662 chr2:10418652-10418663 chr2:10418651-10418664 chr2:10418652-10418663 chr2:10418654-10418663
18	CEBPD	chr2:10417779-10418725	HepG2	liver:	n/a	n/a
19	MAX	chr2:10417856-10418946	HepG2	liver:	n/a	chr2:10418653-10418662 chr2:10418651-10418664 chr2:10418652-10418662 chr2:10418651-10418661 chr2:10418653-10418663 chr2:10418653-10418663 chr2:10418651-10418666 chr2:10418651-10418664 chr2:10418654-10418661 chr2:10418653-10418662 chr2:10418652-10418663 chr2:10418651-10418664 chr2:10418652-10418663 chr2:10418654-10418663
20	TEAD4	chr2:10417636-10419227	HepG2	liver:	n/a	n/a
21	YY1	chr2:10417570-10419212	HepG2	liver:	n/a	n/a
22	HNF4A	chr2:10417698-10418893	HepG2	liver:	n/a	chr2:10417994-10418009
23	POLR2A	chr2:10417841-10419104	HepG2	liver:	n/a	n/a
24	RCOR1	chr2:10417730-10419008	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:10274325..10277239-chr2:10417227..10419368,3	K562	blood:
2	chr2:10417267..10421526-chr2:10440124..10444517,8	K562	blood:
3	chr2:10417286..10420663-chr2:10441133..10444822,4	MCF-7	breast:
4	chr2:10416484..10418101-chr2:10547563..10549707,2	MCF-7	breast:
5	chr2:10416266..10418182-chr2:10522791..10524644,2	K562	blood:
6	chr2:10417102..10422487-chr2:10439870..10443532,9	K562	blood:
7	chr2:10416195..10418762-chr2:10425700..10428798,3	MCF-7	breast:
8	chr2:10393987..10396865-chr2:10417626..10420147,4	K562	blood:
9	chr2:10412656..10415128-chr2:10415819..10419038,3	K562	blood:
10	chr2:10415260..10418941-chr2:10419729..10423831,6	MCF-7	breast:
11	chr2:10412424..10413935-chr2:10416602..10418723,2	MCF-7	breast:
12	chr2:10411031..10415128-chr2:10415819..10419718,6	K562	blood:
13	chr2:10261370..10264199-chr2:10417040..10418605,2	K562	blood:

Variant related genes	Relation type
RN7SL66P	TF binding region
ENSG00000115756	Chromatin interaction
ENSG00000171848	Chromatin interaction
ENSG00000264030	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11897614	1.00[AMR][1000 genomes]
rs56125001	1.00[AMR][1000 genomes]
rs60125061	1.00[AMR][1000 genomes]
rs73914013	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	nsv530829	chr2:10357105-10655131	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
2	nsv873639	chr2:10372061-10475308	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv873640	chr2:10385097-10422342	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv2762357	chr2:10401309-10426323	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10410200-10418600	Enhancers	K562	blood
2	chr2:10411200-10418400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr2:10411800-10418200	Weak transcription	Colonic Mucosa	Colon
4	chr2:10412000-10418000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:10412000-10423000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:10412400-10422200	Weak transcription	Hela-S3	cervix
7	chr2:10416400-10418000	Enhancers	Liver	Liver
8	chr2:10416600-10419200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:10416600-10419600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr2:10416800-10418400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr2:10416800-10419600	Enhancers	Ovary	ovary
12	chr2:10416800-10419600	Enhancers	Pancreas	Pancrea
13	chr2:10417000-10418200	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr2:10417000-10419800	Enhancers	Fetal Intestine Small	intestine
15	chr2:10417200-10418200	Flanking Bivalent TSS/Enh	HepG2	liver
16	chr2:10417200-10420000	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr2:10417200-10422800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr2:10417400-10418000	Enhancers	Gastric	stomach
19	chr2:10417400-10418400	Enhancers	Muscle Satellite Cultured Cells	--
20	chr2:10417400-10419800	Enhancers	Fetal Intestine Large	intestine
21	chr2:10417600-10418000	Flanking Active TSS	Spleen	Spleen
22	chr2:10417600-10418200	Flanking Active TSS	Duodenum Mucosa	Duodenum
23	chr2:10417600-10418200	Enhancers	Osteobl	bone
24	chr2:10417600-10418400	Enhancers	Lung	lung
25	chr2:10417600-10418400	Enhancers	Right Ventricle	heart
26	chr2:10417600-10418400	Enhancers	HSMM	muscle
27	chr2:10417600-10418800	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr2:10417600-10419200	Enhancers	Adipose Nuclei	Adipose
29	chr2:10417600-10419200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
30	chr2:10417600-10420400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr2:10417800-10418200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:10417800-10418200	Enhancers	Brain Substantia Nigra	brain
33	chr2:10417800-10418200	Enhancers	Fetal Muscle Leg	muscle
34	chr2:10417800-10418200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
35	chr2:10417800-10418400	Enhancers	Left Ventricle	heart
36	chr2:10417800-10418400	Enhancers	HSMMtube	muscle
37	chr2:10417800-10418800	Enhancers	Right Atrium	heart
38	chr2:10417800-10419000	Bivalent Enhancer	Placenta	Placenta
39	chr2:10417800-10419000	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr2:10417800-10419200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr2:10417800-10419200	Enhancers	Primary T cells fromperipheralblood	blood
42	chr2:10417800-10419200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr2:10417800-10419200	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr2:10417800-10419800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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