Variant report

Variant	rs58260740
Chromosome Location	chr1:210011226-210011227
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	STAT3	chr1:210011066-210011265	MCF10A-Er-Src	breast:	n/a	chr1:210011150-210011161
2	POLR2A	chr1:210010382-210011568	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:210009468..210011430-chr1:210546154..210548460,3	MCF-7	breast:

Variant related genes	Relation type
DIEXF	TF binding region
ENSG00000200972	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11803135	1.00[EUR][1000 genomes]
rs59958527	1.00[EUR][1000 genomes]
rs60110781	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73093806	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73093807	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73093837	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73093866	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73093874	1.00[EUR][1000 genomes]
rs73093876	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73095703	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7524534	1.00[EUR][1000 genomes]
rs7534109	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv873139	chr1:209828955-210050794	Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210001800-210025000	Weak transcription	Stomach Mucosa	stomach
2	chr1:210001800-210034000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:210002000-210015600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:210002000-210023800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:210002400-210032000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:210003000-210013200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:210003200-210017400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:210003200-210027800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr1:210003200-210028600	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr1:210003200-210029400	Strong transcription	Fetal Muscle Trunk	muscle
11	chr1:210003400-210028000	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr1:210003400-210028400	Strong transcription	Primary B cells from peripheral blood	blood
13	chr1:210003600-210012200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:210003600-210028000	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr1:210003800-210011800	Strong transcription	A549	lung
16	chr1:210003800-210013200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr1:210003800-210028000	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr1:210003800-210028200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr1:210003800-210028400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr1:210004000-210012000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:210004000-210015800	Genic enhancers	NHDF-Ad	bronchial
22	chr1:210004000-210019000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
23	chr1:210004000-210019000	Strong transcription	Duodenum Smooth Muscle	Duodenum
24	chr1:210004000-210021400	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr1:210004000-210027600	Strong transcription	K562	blood
26	chr1:210004000-210027800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:210004000-210028000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr1:210004000-210028000	Strong transcription	Fetal Thymus	thymus
29	chr1:210004000-210028200	Strong transcription	Duodenum Mucosa	Duodenum
30	chr1:210004000-210030800	Strong transcription	Primary B cells from cord blood	blood
31	chr1:210004200-210011400	Strong transcription	Fetal Intestine Large	intestine
32	chr1:210004200-210013000	Strong transcription	Skeletal Muscle Female	skeletal muscle
33	chr1:210004200-210013200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr1:210004200-210013200	Strong transcription	Skeletal Muscle Male	skeletal muscle
35	chr1:210004200-210017600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr1:210004200-210018200	Strong transcription	Brain Substantia Nigra	brain
37	chr1:210004200-210018600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
38	chr1:210004200-210018600	Strong transcription	Fetal Lung	lung
39	chr1:210004200-210018600	Strong transcription	Left Ventricle	heart
40	chr1:210004200-210018800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr1:210004200-210018800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr1:210004200-210019000	Strong transcription	H1 Cell Line	embryonic stem cell
43	chr1:210004200-210019000	Strong transcription	Brain Anterior Caudate	brain
44	chr1:210004200-210019400	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr1:210004200-210019400	Strong transcription	Stomach Smooth Muscle	stomach
46	chr1:210004200-210020200	Strong transcription	Brain Angular Gyrus	brain
47	chr1:210004200-210020200	Strong transcription	Sigmoid Colon	Sigmoid Colon
48	chr1:210004200-210022000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
49	chr1:210004200-210027600	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr1:210004200-210027600	Strong transcription	Primary hematopoietic stem cells	blood

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