Variant report

Variant	rs1466200
Chromosome Location	chr2:20796347-20796348
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:24)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:24 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HEY1	chr2:20795996-20797400	HepG2	liver:	n/a	n/a
2	HEY1	chr2:20796173-20798370	HepG2	liver:	n/a	n/a
3	POLR2A	chr2:20795994-20797905	HepG2	liver:	n/a	n/a
4	MYBL2	chr2:20795354-20797572	HepG2	liver:	n/a	n/a
5	POLR2A	chr2:20796125-20798197	HepG2	liver:	n/a	n/a
6	SPI1	chr2:20796305-20796622	GM12878	blood:	n/a	chr2:20796473-20796486
7	ZNF143	chr2:20795071-20796419	GM12878	blood:	n/a	chr2:20795525-20795543
8	SETDB1	chr2:20796167-20796438	U2OS	brain:	n/a	n/a
9	STAT5A	chr2:20794804-20796454	GM12878	blood:	n/a	chr2:20795134-20795142 chr2:20795900-20795912 chr2:20795532-20795544
10	RELA	chr2:20795106-20796552	GM18505	blood:	n/a	n/a
11	MTA3	chr2:20794831-20796689	GM12878	blood:	n/a	n/a
12	NFIC	chr2:20795650-20798123	HepG2	liver:	n/a	n/a
13	TEAD4	chr2:20796341-20797644	HepG2	liver:	n/a	n/a
14	RCOR1	chr2:20796343-20797206	HepG2	liver:	n/a	n/a
15	MYBL2	chr2:20796083-20797485	HepG2	liver:	n/a	n/a
16	MBD4	chr2:20795521-20797754	HepG2	liver:	n/a	n/a
17	POLR2A	chr2:20796089-20797860	HepG2	liver:	n/a	n/a
18	SPI1	chr2:20796286-20796634	GM12891	blood:	n/a	chr2:20796473-20796486
19	RELA	chr2:20795097-20796381	GM19193	blood:	n/a	n/a
20	POLR2A	chr2:20796186-20796548	HepG2	liver:	n/a	n/a
21	NFIC	chr2:20796089-20797384	HepG2	liver:	n/a	n/a
22	MBD4	chr2:20796024-20797551	HepG2	liver:	n/a	n/a
23	POLR2A	chr2:20796334-20796600	Hela-S3	cervix:	n/a	n/a
24	MAX	chr2:20795416-20797933	HepG2	liver:	n/a	chr2:20795679-20795688

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:20666213..20668504-chr2:20794709..20797277,2	MCF-7	breast:
2	chr2:20644797..20655251-chr2:20787626..20802274,53	MCF-7	breast:
3	chr2:20790810..20793188-chr2:20795452..20798408,2	MCF-7	breast:
4	chr2:20793781..20795387-chr2:20795652..20798532,2	K562	blood:
5	chr2:20767266..20769028-chr2:20793726..20796533,2	K562	blood:
6	chr2:20794523..20801165-chr2:20801395..20807064,11	K562	blood:
7	chr2:20795835..20797595-chr2:20834654..20837275,2	K562	blood:
8	chr2:20790147..20792298-chr2:20794346..20796797,2	K562	blood:
9	chr2:20767266..20769707-chr2:20793726..20796533,3	K562	blood:
10	chr2:20644186..20651576-chr2:20790196..20799394,18	MCF-7	breast:

No data

Variant related genes	Relation type
HS1BP3-IT1	TF binding region
ENSG00000228950	Chromatin interaction
ENSG00000231948	Chromatin interaction
ENSG00000143878	Chromatin interaction
ENSG00000233416	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10153843	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10177834	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11096679	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11885969	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13013281	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13031724	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13032956	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4666436	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57734601	0.83[ASN][1000 genomes]
rs6712435	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6715159	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6722960	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs921599	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833537	chr2:20630092-20826816	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv833548	chr2:20682073-20864078	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1012037	chr2:20770850-20824893	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv535598	chr2:20770850-20824893	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv581167	chr2:20791125-20827846	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active 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	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20786200-20797600	Weak transcription	Psoas Muscle	Psoas
2	chr2:20787200-20800200	Enhancers	Right Ventricle	heart
3	chr2:20789000-20798200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:20789200-20797000	Enhancers	Spleen	Spleen
5	chr2:20789200-20800400	Enhancers	Placenta	Placenta
6	chr2:20790200-20797800	Enhancers	Fetal Intestine Large	intestine
7	chr2:20790800-20801200	Enhancers	Adipose Nuclei	Adipose
8	chr2:20791200-20796600	Weak transcription	Fetal Heart	heart
9	chr2:20791400-20796600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr2:20791800-20796400	Weak transcription	Pancreas	Pancrea
11	chr2:20791800-20797200	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr2:20791800-20800400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr2:20792000-20797800	Enhancers	HSMM	muscle
14	chr2:20792000-20798200	Enhancers	Muscle Satellite Cultured Cells	--
15	chr2:20792200-20797800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:20792200-20797800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr2:20792200-20797800	Enhancers	NH-A	brain
18	chr2:20792200-20798200	Enhancers	Ovary	ovary
19	chr2:20792400-20797600	Enhancers	A549	lung
20	chr2:20792400-20797800	Enhancers	Lung	lung
21	chr2:20792400-20797800	Enhancers	NHLF	lung
22	chr2:20792400-20798400	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr2:20792400-20800200	Enhancers	Right Atrium	heart
24	chr2:20792600-20797200	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr2:20792600-20797800	Enhancers	NHDF-Ad	bronchial
26	chr2:20792800-20797200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:20792800-20798200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr2:20792800-20801800	Enhancers	HUVEC	blood vessel
29	chr2:20793000-20797800	Enhancers	Brain Hippocampus Middle	brain
30	chr2:20793000-20799000	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr2:20793000-20800400	Enhancers	Left Ventricle	heart
32	chr2:20793000-20801200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:20793400-20797600	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr2:20793600-20797400	Enhancers	Primary B cells from peripheral blood	blood
35	chr2:20793600-20797600	Enhancers	K562	blood
36	chr2:20793800-20801400	Enhancers	Brain Angular Gyrus	brain
37	chr2:20794000-20797200	Enhancers	Osteobl	bone
38	chr2:20794200-20798000	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr2:20794200-20800000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr2:20794400-20796400	Weak transcription	Gastric	stomach
41	chr2:20794600-20797400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr2:20794600-20798200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr2:20794600-20800200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr2:20794800-20796400	Enhancers	HMEC	breast
45	chr2:20794800-20796600	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr2:20794800-20797800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr2:20794800-20798200	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr2:20794800-20801200	Enhancers	Brain Anterior Caudate	brain
49	chr2:20794800-20801200	Enhancers	Brain Substantia Nigra	brain
50	chr2:20795000-20796400	Weak transcription	Sigmoid Colon	Sigmoid Colon

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