Variant report

Variant	rs3767656
Chromosome Location	chr1:220320175-220320176
allele	C/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	CEBPB	chr1:220320034-220320208	HepG2	liver:	n/a	chr1:220320069-220320080
2	POLR2A	chr1:220317609-220326905	K562	blood:	n/a	n/a
3	POLR2A	chr1:220320144-220320278	HepG2	liver:	n/a	n/a
4	POLR2A	chr1:220320134-220321207	PFSK-1	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:220311857..220315407-chr1:220318333..220322299,4	K562	blood:

Variant related genes	Relation type
RPS15AP12	TF binding region
ENSG00000067704	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1039206	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1124763	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12031256	0.81[ASN][1000 genomes]
rs12037712	0.81[ASN][1000 genomes]
rs12045447	0.81[ASN][1000 genomes]
rs17007107	0.86[AMR][1000 genomes]
rs17007139	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3820455	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs58256586	0.86[AMR][1000 genomes]
rs58966246	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73096595	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73098512	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73098518	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73098527	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73098528	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73098530	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73098537	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73098540	0.81[ASN][1000 genomes]
rs73098550	0.81[ASN][1000 genomes]
rs73098551	0.81[ASN][1000 genomes]
rs73098553	0.81[ASN][1000 genomes]
rs73098567	0.81[ASN][1000 genomes]
rs874331	0.81[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427930	chr1:220120379-220333434	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	744 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220268400-220330200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:220269400-220330000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr1:220284600-220324600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr1:220288200-220324600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:220296000-220327600	Weak transcription	Colonic Mucosa	Colon
6	chr1:220296600-220323200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:220298600-220321600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr1:220298800-220334600	Strong transcription	Fetal Thymus	thymus
9	chr1:220299000-220321200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr1:220299000-220322800	Weak transcription	Stomach Mucosa	stomach
11	chr1:220300000-220321000	Strong transcription	Fetal Intestine Large	intestine
12	chr1:220300000-220321600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:220303800-220331600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr1:220304800-220335600	Strong transcription	Placenta	Placenta
15	chr1:220305400-220321600	Strong transcription	Primary B cells from peripheral blood	blood
16	chr1:220305400-220331800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr1:220305400-220347000	Strong transcription	Dnd41	blood
18	chr1:220305400-220376600	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr1:220305600-220347600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr1:220305800-220321600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr1:220305800-220347000	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr1:220306000-220321000	Strong transcription	Fetal Muscle Leg	muscle
23	chr1:220306000-220322000	Strong transcription	Liver	Liver
24	chr1:220306200-220322800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:220306400-220321400	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr1:220306600-220322800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr1:220306600-220336600	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr1:220306600-220346600	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr1:220306600-220348200	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr1:220307400-220321600	Strong transcription	Skeletal Muscle Female	skeletal muscle
31	chr1:220308400-220324800	Weak transcription	HSMMtube	muscle
32	chr1:220308400-220327600	Weak transcription	Aorta	Aorta
33	chr1:220308400-220329600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr1:220308400-220339600	Weak transcription	Psoas Muscle	Psoas
35	chr1:220310000-220324400	Strong transcription	Osteobl	bone
36	chr1:220310200-220320200	Strong transcription	GM12878-XiMat	blood
37	chr1:220310200-220321000	Strong transcription	A549	lung
38	chr1:220310600-220327600	Weak transcription	Spleen	Spleen
39	chr1:220311200-220325000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr1:220311200-220330600	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr1:220311200-220343400	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr1:220311400-220324000	Weak transcription	Small Intestine	intestine
43	chr1:220311400-220330200	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr1:220311400-220331000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr1:220311600-220321600	Strong transcription	Primary T cells from cord blood	blood
46	chr1:220311600-220335000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr1:220312000-220331200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr1:220312200-220347400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr1:220312400-220322000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr1:220312800-220322400	Strong transcription	Adipose Nuclei	Adipose

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