Variant report

Variant	rs73093319
Chromosome Location	chr1:227932226-227932227
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	ZNF263	chr1:227932072-227932765	HEK293-T-REx	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:227918805..227924684-chr1:227929963..227939883,12	K562	blood:
2	chr1:227930380..227932578-chr1:227934222..227938567,7	K562	blood:
3	chr1:227916292..227919497-chr1:227931130..227934123,3	K562	blood:

Variant related genes	Relation type
SNAP47	TF binding region
ENSG00000230005	Chromatin interaction
ENSG00000081692	Chromatin interaction
ENSG00000143740	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs12563564	1.00[AMR][1000 genomes]
rs12564917	1.00[AMR][1000 genomes]
rs12565618	1.00[AMR][1000 genomes]
rs12565653	1.00[AMR][1000 genomes]
rs12567084	1.00[AMR][1000 genomes]
rs16847987	1.00[AMR][1000 genomes]
rs17492447	1.00[AMR][1000 genomes]
rs2101862	1.00[AMR][1000 genomes]
rs2313220	1.00[AMR][1000 genomes]
rs35703429	1.00[AMR][1000 genomes]
rs57165550	1.00[AMR][1000 genomes]
rs58322371	1.00[AMR][1000 genomes]
rs59404931	1.00[AMR][1000 genomes]
rs59461077	1.00[AMR][1000 genomes]
rs59772630	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60835672	1.00[AMR][1000 genomes]
rs61283390	1.00[AMR][1000 genomes]
rs6665512	1.00[AMR][1000 genomes]
rs6675470	1.00[AMR][1000 genomes]
rs73090938	1.00[AMR][1000 genomes]
rs73090942	1.00[AMR][1000 genomes]
rs73090947	1.00[AMR][1000 genomes]
rs73090948	1.00[AMR][1000 genomes]
rs73090952	1.00[AMR][1000 genomes]
rs73090959	1.00[AMR][1000 genomes]
rs73090985	1.00[AMR][1000 genomes]
rs73090986	1.00[AMR][1000 genomes]
rs73090987	1.00[AMR][1000 genomes]
rs73090994	1.00[AMR][1000 genomes]
rs73090995	1.00[AMR][1000 genomes]
rs73091000	1.00[AMR][1000 genomes]
rs73092604	1.00[AMR][1000 genomes]
rs73092607	1.00[AMR][1000 genomes]
rs73092610	1.00[AMR][1000 genomes]
rs73092646	1.00[AMR][1000 genomes]
rs73092653	1.00[AMR][1000 genomes]
rs73092661	1.00[AMR][1000 genomes]
rs73092665	1.00[AMR][1000 genomes]
rs73093304	1.00[AMR][1000 genomes]
rs73093328	1.00[AMR][1000 genomes]
rs73093344	1.00[AMR][1000 genomes]
rs73093354	1.00[AMR][1000 genomes]
rs73094528	1.00[AMR][1000 genomes]
rs73094536	1.00[AMR][1000 genomes]
rs73094538	1.00[AMR][1000 genomes]
rs73094556	1.00[AMR][1000 genomes]
rs73094558	1.00[AMR][1000 genomes]
rs73094561	1.00[AMR][1000 genomes]
rs73094571	1.00[AMR][1000 genomes]
rs73098926	1.00[AMR][1000 genomes]
rs73098933	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73099300	1.00[AMR][1000 genomes]
rs73099302	1.00[AMR][1000 genomes]
rs73101625	1.00[AMR][1000 genomes]
rs73101653	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7526436	1.00[AMR][1000 genomes]
rs7546845	1.00[AMR][1000 genomes]
rs7554851	1.00[AMR][1000 genomes]
rs7554870	1.00[AMR][1000 genomes]
rs7555208	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	nsv1007479	chr1:227695868-227984466	Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv1010605	chr1:227770415-228332690	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
4	esv32853	chr1:227880116-228806209	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
5	nsv427952	chr1:227881664-228308629	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
6	nsv826908	chr1:227895386-228691100	Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
7	nsv515496	chr1:227912474-227967938	Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
8	nsv873249	chr1:227920061-228121548	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227923800-227935600	Weak transcription	Aorta	Aorta
2	chr1:227924000-227935400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:227924000-227935600	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr1:227924000-227936400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:227924200-227932400	Weak transcription	Fetal Thymus	thymus
6	chr1:227924200-227933800	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr1:227924200-227933800	Weak transcription	HMEC	breast
8	chr1:227924200-227934600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:227924200-227934800	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr1:227924200-227935000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr1:227924200-227935000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:227924200-227935000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr1:227924200-227935400	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr1:227924200-227935400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:227924200-227935400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr1:227924200-227935400	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr1:227924200-227935400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr1:227924200-227935400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:227924200-227935400	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr1:227924200-227935400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr1:227924200-227935600	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr1:227924200-227935600	Weak transcription	Primary B cells from cord blood	blood
23	chr1:227924200-227935800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr1:227924200-227935800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr1:227924200-227935800	Weak transcription	A549	lung
26	chr1:227924200-227936000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr1:227924200-227936000	Weak transcription	Fetal Kidney	kidney
28	chr1:227924200-227940800	Weak transcription	HSMMtube	muscle
29	chr1:227924200-227941200	Weak transcription	HSMM	muscle
30	chr1:227924200-227941200	Weak transcription	NHDF-Ad	bronchial
31	chr1:227924200-227941600	Weak transcription	Osteobl	bone
32	chr1:227924200-227942000	Weak transcription	Hela-S3	cervix
33	chr1:227924200-227946800	Weak transcription	HUVEC	blood vessel
34	chr1:227924200-227955000	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr1:227924400-227935400	Weak transcription	Fetal Lung	lung
36	chr1:227924400-227935800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr1:227924400-227936200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr1:227924600-227935400	Weak transcription	Primary B cells from peripheral blood	blood
39	chr1:227924800-227932400	Weak transcription	Esophagus	oesophagus
40	chr1:227924800-227932600	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr1:227924800-227935000	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr1:227924800-227935400	Weak transcription	Brain Substantia Nigra	brain
43	chr1:227924800-227935600	Weak transcription	Colonic Mucosa	Colon
44	chr1:227924800-227941400	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr1:227925000-227935000	Weak transcription	Colon Smooth Muscle	Colon
46	chr1:227925000-227935200	Weak transcription	Liver	Liver
47	chr1:227925000-227935400	Weak transcription	Adipose Nuclei	Adipose
48	chr1:227925000-227935400	Weak transcription	K562	blood
49	chr1:227925000-227935600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr1:227925000-227936000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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