Variant report

Variant	rs2692535
Chromosome Location	chr2:54012910-54012911
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	MXI1	chr2:54011532-54015698	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr2:54012665-54012993	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:53992980..53996474-chr2:54011575..54015691,9	K562	blood:
2	chr2:53993579..53997009-chr2:54011416..54015067,4	MCF-7	breast:
3	chr2:53993518..53997677-chr2:54010995..54015634,7	MCF-7	breast:

Variant related genes	Relation type
ERLEC1	TF binding region
ENSG00000143942	Chromatin interaction
ENSG00000115239	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11901698	0.81[AFR][1000 genomes]
rs17045176	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17045203	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17520505	0.89[AFR][1000 genomes]
rs17520854	0.87[AMR][1000 genomes]
rs17521008	0.83[AFR][1000 genomes]
rs2008082	0.84[AFR][1000 genomes]
rs2287340	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2542572	0.91[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2542578	0.93[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs2542580	0.81[ASN][1000 genomes]
rs2542581	0.82[AFR][1000 genomes]
rs2542583	0.86[ASN][1000 genomes]
rs2542592	0.82[ASN][1000 genomes]
rs2543629	0.82[ASN][1000 genomes]
rs2692512	0.81[ASN][1000 genomes]
rs2692513	0.81[ASN][1000 genomes]
rs2692521	0.82[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2692523	0.93[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs2692533	0.82[ASN][1000 genomes]
rs2909262	0.85[ASN][1000 genomes]
rs2949813	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3770394	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3770395	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3770397	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3922262	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4116709	0.83[AFR][1000 genomes]
rs55897904	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58326257	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62137573	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62137606	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62137610	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62137611	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62137612	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6730006	0.83[AFR][1000 genomes]
rs719127	0.84[AFR][1000 genomes]
rs72901256	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7600817	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs805435	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003263	chr2:53863287-54055359	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv535720	chr2:53863287-54055359	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv834058	chr2:53900674-54072011	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1009829	chr2:53980562-54051927	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54004600-54013200	Weak transcription	Aorta	Aorta
2	chr2:54010600-54013200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr2:54010800-54013000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr2:54011200-54013000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr2:54011200-54013200	Enhancers	Primary T killer memory cells from peripheral blood	blood
6	chr2:54011400-54013000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:54011400-54013000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:54011400-54013200	Enhancers	Primary B cells from peripheral blood	blood
9	chr2:54011400-54013200	Enhancers	Primary T cells fromperipheralblood	blood
10	chr2:54011400-54013200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr2:54011400-54013200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr2:54011400-54013400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:54011600-54013000	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr2:54011600-54013000	Enhancers	Primary B cells from cord blood	blood
15	chr2:54011600-54013000	Flanking Active TSS	HepG2	liver
16	chr2:54011600-54013200	Enhancers	Psoas Muscle	Psoas
17	chr2:54011600-54013200	Enhancers	Spleen	Spleen
18	chr2:54011600-54014000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:54011800-54013000	Enhancers	Right Ventricle	heart
20	chr2:54011800-54013200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr2:54011800-54013200	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr2:54011800-54015800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:54012000-54013000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
24	chr2:54012000-54013000	Flanking Active TSS	Dnd41	blood
25	chr2:54012200-54013000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr2:54012200-54013000	Flanking Active TSS	Brain Cingulate Gyrus	brain
27	chr2:54012200-54013000	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr2:54012200-54013200	Flanking Active TSS	Brain Hippocampus Middle	brain
29	chr2:54012200-54013200	Weak transcription	Esophagus	oesophagus
30	chr2:54012200-54013200	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr2:54012200-54013400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr2:54012200-54013600	Active TSS	Brain Germinal Matrix	brain
33	chr2:54012200-54014800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr2:54012200-54015000	Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr2:54012200-54015800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr2:54012200-54015800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr2:54012400-54013000	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr2:54012400-54013000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
39	chr2:54012400-54013000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr2:54012400-54013000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr2:54012400-54013000	Flanking Active TSS	Thymus	Thymus
42	chr2:54012400-54013600	Flanking Active TSS	Osteobl	bone
43	chr2:54012400-54014800	Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr2:54012400-54015400	Active TSS	Hela-S3	cervix
45	chr2:54012400-54015600	Active TSS	GM12878-XiMat	blood
46	chr2:54012400-54015800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr2:54012400-54015800	Active TSS	HUES6 Cell Line	embryonic stem cell
48	chr2:54012400-54015800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr2:54012400-54016000	Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr2:54012600-54013000	Flanking Active TSS	H1 Cell Line	embryonic stem cell

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