Variant report

Variant	rs7340497
Chromosome Location	chr2:20797177-20797178
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	HNF4A	chr2:20796700-20797250	HepG2	liver:	n/a	chr2:20797055-20797063
2	EP300	chr2:20796603-20797455	HepG2	liver:	n/a	n/a
3	POLR2A	chr2:20796729-20797313	HepG2	liver:	n/a	n/a
4	CEBPB	chr2:20796711-20797237	HepG2	liver:	n/a	n/a
5	ARID3A	chr2:20796800-20797390	HepG2	liver:	n/a	n/a
6	HNF4A	chr2:20796688-20797390	HepG2	liver:	n/a	chr2:20797055-20797063 chr2:20796691-20796699
7	HDAC2	chr2:20796656-20797251	HepG2	liver:	n/a	chr2:20796915-20796934
8	HEY1	chr2:20795996-20797400	HepG2	liver:	n/a	n/a
9	HEY1	chr2:20796173-20798370	HepG2	liver:	n/a	n/a
10	POLR2A	chr2:20795994-20797905	HepG2	liver:	n/a	n/a
11	POLR2A	chr2:20796741-20797841	HepG2	liver:	n/a	n/a
12	FOXA1	chr2:20796643-20797279	HepG2	liver:	n/a	n/a
13	SMC3	chr2:20796482-20797415	HepG2	liver:	n/a	chr2:20796672-20796686
14	MYBL2	chr2:20795354-20797572	HepG2	liver:	n/a	n/a
15	POLR2A	chr2:20796501-20797386	HepG2	liver:	n/a	n/a
16	TAF1	chr2:20796803-20797219	HepG2	liver:	n/a	n/a
17	RAD21	chr2:20796672-20797376	HepG2	liver:	n/a	chr2:20796672-20796681
18	POLR2A	chr2:20796125-20798197	HepG2	liver:	n/a	n/a
19	MAFK	chr2:20796534-20797615	HepG2	liver:	n/a	chr2:20797464-20797475
20	RXRA	chr2:20796643-20797273	HepG2	liver:	n/a	n/a
21	JUND	chr2:20796767-20797229	HepG2	liver:	n/a	n/a
22	JUND	chr2:20796670-20797267	HepG2	liver:	n/a	n/a
23	ELF1	chr2:20796670-20797384	HepG2	liver:	n/a	chr2:20797008-20797021
24	HNF4G	chr2:20796631-20797331	HepG2	liver:	n/a	chr2:20797055-20797063 chr2:20796691-20796699
25	TBP	chr2:20796718-20797295	HepG2	liver:	n/a	n/a
26	NR2F2	chr2:20796650-20797248	K562	blood:	n/a	n/a
27	MXI1	chr2:20796567-20797326	HepG2	liver:	n/a	n/a
28	NR2F2	chr2:20796477-20797415	HepG2	liver:	n/a	n/a
29	POLR2A	chr2:20796585-20797282	HUVEC	blood vessel:	n/a	n/a
30	FOSL2	chr2:20796600-20797358	HepG2	liver:	n/a	n/a
31	MAFF	chr2:20796791-20797593	HepG2	liver:	n/a	chr2:20797461-20797479 chr2:20797431-20797449
32	NR3C1	chr2:20796659-20797280	A549	lung:	n/a	chr2:20796981-20796988
33	HDAC2	chr2:20796651-20797345	HepG2	liver:	n/a	chr2:20796915-20796934
34	NFIC	chr2:20795650-20798123	HepG2	liver:	n/a	n/a
35	TEAD4	chr2:20796341-20797644	HepG2	liver:	n/a	n/a
36	REST	chr2:20796598-20797323	HepG2	liver:	n/a	n/a
37	POLR2A	chr2:20796710-20797340	HepG2	liver:	n/a	n/a
38	RCOR1	chr2:20796343-20797206	HepG2	liver:	n/a	n/a
39	NR3C1	chr2:20796762-20797197	A549	lung:	n/a	chr2:20796981-20796988
40	MYBL2	chr2:20796083-20797485	HepG2	liver:	n/a	n/a
41	MBD4	chr2:20795521-20797754	HepG2	liver:	n/a	n/a
42	ELF1	chr2:20796773-20797288	K562	blood:	n/a	chr2:20797008-20797021
43	MAFK	chr2:20796895-20797626	HepG2	liver:	n/a	chr2:20797464-20797475
44	MAX	chr2:20796729-20797229	HepG2	liver:	n/a	n/a
45	POLR2A	chr2:20796729-20797270	HepG2	liver:	n/a	n/a
46	FOXA1	chr2:20796574-20797263	HepG2	liver:	n/a	n/a
47	YY1	chr2:20796520-20797274	HepG2	liver:	n/a	n/a
48	CEBPD	chr2:20796754-20797311	HepG2	liver:	n/a	n/a
49	RFX5	chr2:20796789-20797282	HepG2	liver:	n/a	chr2:20797024-20797039 chr2:20797023-20797040 chr2:20797024-20797039 chr2:20797024-20797039
50	FOXA1	chr2:20796609-20797231	HepG2	liver:	n/a	n/a

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	chr2:20794523..20801165-chr2:20801395..20807064,11	K562	blood:
6	chr2:20795835..20797595-chr2:20834654..20837275,2	K562	blood:
7	chr2:20644186..20651576-chr2:20790196..20799394,18	MCF-7	breast:
8	chr2:20790477..20793225-chr2:20796841..20798820,2	K562	blood:

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

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11885876	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs58726406	0.82[AFR][1000 genomes]
rs59618840	0.82[AFR][1000 genomes]
rs62124234	0.82[AFR][1000 genomes]
rs73919930	0.89[AFR][1000 genomes]
rs7588678	1.00[JPT][hapmap];0.83[AFR][1000 genomes]
rs7595132	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs896737	1.00[JPT][hapmap]

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	chr2:20789200-20800400	Enhancers	Placenta	Placenta
5	chr2:20790200-20797800	Enhancers	Fetal Intestine Large	intestine
6	chr2:20790800-20801200	Enhancers	Adipose Nuclei	Adipose
7	chr2:20791800-20797200	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr2:20791800-20800400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr2:20792000-20797800	Enhancers	HSMM	muscle
10	chr2:20792000-20798200	Enhancers	Muscle Satellite Cultured Cells	--
11	chr2:20792200-20797800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:20792200-20797800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:20792200-20797800	Enhancers	NH-A	brain
14	chr2:20792200-20798200	Enhancers	Ovary	ovary
15	chr2:20792400-20797600	Enhancers	A549	lung
16	chr2:20792400-20797800	Enhancers	Lung	lung
17	chr2:20792400-20797800	Enhancers	NHLF	lung
18	chr2:20792400-20798400	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr2:20792400-20800200	Enhancers	Right Atrium	heart
20	chr2:20792600-20797200	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr2:20792600-20797800	Enhancers	NHDF-Ad	bronchial
22	chr2:20792800-20797200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:20792800-20798200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr2:20792800-20801800	Enhancers	HUVEC	blood vessel
25	chr2:20793000-20797800	Enhancers	Brain Hippocampus Middle	brain
26	chr2:20793000-20799000	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr2:20793000-20800400	Enhancers	Left Ventricle	heart
28	chr2:20793000-20801200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:20793400-20797600	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr2:20793600-20797400	Enhancers	Primary B cells from peripheral blood	blood
31	chr2:20793600-20797600	Enhancers	K562	blood
32	chr2:20793800-20801400	Enhancers	Brain Angular Gyrus	brain
33	chr2:20794000-20797200	Enhancers	Osteobl	bone
34	chr2:20794200-20798000	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr2:20794200-20800000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr2:20794600-20797400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr2:20794600-20798200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr2:20794600-20800200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr2:20794800-20797800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:20794800-20798200	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr2:20794800-20801200	Enhancers	Brain Anterior Caudate	brain
42	chr2:20794800-20801200	Enhancers	Brain Substantia Nigra	brain
43	chr2:20795000-20797800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr2:20795000-20801200	Enhancers	Brain Cingulate Gyrus	brain
45	chr2:20795000-20801600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr2:20795000-20802000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr2:20795200-20798000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr2:20795200-20798000	Enhancers	Rectal Mucosa Donor 29	rectum
49	chr2:20795200-20799800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr2:20795400-20797800	Enhancers	Duodenum Mucosa	Duodenum

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