Variant report

Variant	rs73945740
Chromosome Location	chr2:73286383-73286384
allele	C/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	chr2:73286172-73286972	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:73284849..73288387-chr2:73297041..73300553,5	K562	blood:

Variant related genes	Relation type
SFXN5	TF binding region
ENSG00000144040	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs17348624	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17348638	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17433172	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17504663	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17504810	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17511570	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17570040	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17570432	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4143146	0.96[ASN][1000 genomes]
rs55633543	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55768189	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55801301	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55854246	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55881165	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55938508	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56026282	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56088054	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56161051	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56214999	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs56280862	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57522927	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57666506	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs57868938	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6706065	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73943009	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73943014	0.98[EUR][1000 genomes]
rs73943015	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73943016	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73943017	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73943034	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73943035	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73943036	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73943408	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73943410	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs73945731	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73945733	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73945734	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73945735	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002295	chr2:73216155-73350391	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	esv2636937	chr2:73285914-73287515	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73214200-73286400	Weak transcription	Psoas Muscle	Psoas
2	chr2:73249400-73290000	Weak transcription	HUVEC	blood vessel
3	chr2:73249600-73290000	Weak transcription	NHLF	lung
4	chr2:73256800-73290000	Weak transcription	HSMM	muscle
5	chr2:73259200-73291200	Weak transcription	Small Intestine	intestine
6	chr2:73262800-73290600	Weak transcription	NHEK	skin
7	chr2:73264200-73290600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr2:73267800-73289400	Weak transcription	K562	blood
9	chr2:73268600-73289400	Weak transcription	Right Ventricle	heart
10	chr2:73272600-73291200	Weak transcription	Fetal Heart	heart
11	chr2:73275800-73297000	Weak transcription	Pancreas	Pancrea
12	chr2:73277800-73290400	Weak transcription	HMEC	breast
13	chr2:73277800-73290800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr2:73277800-73291200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr2:73281200-73289800	Weak transcription	NHDF-Ad	bronchial
16	chr2:73283400-73286400	ZNF genes & repeats	Fetal Intestine Small	intestine
17	chr2:73283600-73286400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
18	chr2:73284000-73286400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:73284200-73287000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr2:73284200-73290000	Weak transcription	Hela-S3	cervix
21	chr2:73284600-73286800	Strong transcription	HepG2	liver
22	chr2:73284600-73290000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:73284600-73290600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr2:73284600-73296600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr2:73284800-73290200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr2:73284800-73296400	Weak transcription	Fetal Kidney	kidney
27	chr2:73285000-73289200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:73285000-73289400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr2:73285000-73289400	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr2:73285000-73289600	Weak transcription	Fetal Lung	lung
31	chr2:73285000-73289800	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr2:73285000-73290000	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr2:73285000-73290000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr2:73285000-73290600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr2:73285000-73290600	Weak transcription	HSMMtube	muscle
36	chr2:73285000-73290800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr2:73285000-73291200	Weak transcription	Colon Smooth Muscle	Colon
38	chr2:73285000-73291200	Weak transcription	Fetal Muscle Trunk	muscle
39	chr2:73285000-73291200	Weak transcription	Lung	lung
40	chr2:73285000-73291200	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr2:73285000-73291200	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr2:73285000-73295600	Weak transcription	Primary B cells from cord blood	blood
43	chr2:73285000-73295800	Weak transcription	Rectal Smooth Muscle	rectum
44	chr2:73285000-73296000	Weak transcription	Adipose Nuclei	Adipose
45	chr2:73285000-73296000	Weak transcription	Gastric	stomach
46	chr2:73285000-73296000	Weak transcription	Thymus	Thymus
47	chr2:73285000-73296600	Weak transcription	Placenta	Placenta
48	chr2:73285000-73296600	Weak transcription	Ovary	ovary
49	chr2:73285200-73289600	Weak transcription	NH-A	brain
50	chr2:73285200-73290000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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