Variant report

Variant	rs10203057
Chromosome Location	chr2:181844116-181844117
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	ELK1	chr2:181844053-181844510	K562	blood:	n/a	n/a
2	POLR2A	chr2:181843861-181845587	PBDE	blood:	n/a	n/a
3	POLR2A	chr2:181843951-181845618	K562	blood:	n/a	n/a
4	MYBL2	chr2:181843971-181844587	HepG2	liver:	n/a	n/a
5	EP300	chr2:181844056-181844608	HepG2	liver:	n/a	n/a
6	JUND	chr2:181844104-181844542	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr2:181844058-181845743	A549	lung:	n/a	chr2:181845349-181845362 chr2:181845489-181845507 chr2:181845491-181845504 chr2:181845109-181845122
8	RCOR1	chr2:181843843-181846916	K562	blood:	n/a	n/a
9	ELF1	chr2:181844116-181844454	HepG2	liver:	n/a	n/a
10	TBL1XR1	chr2:181843920-181845602	K562	blood:	n/a	n/a
11	JUND	chr2:181843918-181845647	K562	blood:	n/a	n/a
12	MAX	chr2:181844056-181845703	HepG2	liver:	n/a	chr2:181845600-181845610
13	POLR2A	chr2:181844087-181845607	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr2:181843714-181845615	K562	blood:	n/a	n/a
15	MYC	chr2:181844101-181844328	MCF10A-Er-Src	breast:	n/a	n/a
16	TEAD4	chr2:181843828-181844457	HepG2	liver:	n/a	n/a
17	RAD21	chr2:181843929-181845763	SK-N-SH	brain:	n/a	chr2:181845110-181845123
18	HDAC2	chr2:181844102-181844578	HepG2	liver:	n/a	chr2:181844123-181844132

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:181829069..181832020-chr2:181844085..181846532,2	MCF-7	breast:

Variant related genes	Relation type
UBE2E3	TF binding region
ENSG00000170035	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10167039	0.96[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs10177379	0.81[AFR][1000 genomes]
rs10180373	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10180999	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10190282	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10203106	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10206321	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13389513	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13396254	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13399193	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13406482	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13409312	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13420526	0.96[AFR][1000 genomes]
rs13420661	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13425162	0.90[ASN][1000 genomes]
rs13425730	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28887797	1.00[ASN][1000 genomes]
rs4077214	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4618006	0.94[ASN][1000 genomes]
rs4618007	0.94[ASN][1000 genomes]
rs6706552	0.96[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs6721173	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6722001	0.88[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs6761219	0.90[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	nsv875476	chr2:181767757-181854997	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:181839600-181844200	Weak transcription	HSMM	muscle
2	chr2:181842200-181844200	Enhancers	HepG2	liver
3	chr2:181843000-181844400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:181843200-181844200	Enhancers	Duodenum Mucosa	Duodenum
5	chr2:181843200-181844400	Enhancers	HMEC	breast
6	chr2:181843400-181844600	Enhancers	Brain Substantia Nigra	brain
7	chr2:181843600-181844400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:181843600-181844400	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr2:181843600-181844600	Enhancers	H9 Cell Line	embryonic stem cell
10	chr2:181843600-181844600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:181843600-181844600	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr2:181843800-181844200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr2:181843800-181844200	Enhancers	Placenta Amnion	Placenta Amnion
14	chr2:181843800-181844400	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr2:181843800-181844400	Enhancers	NH-A	brain
16	chr2:181843800-181844400	Enhancers	NHDF-Ad	bronchial
17	chr2:181843800-181844600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr2:181843800-181844600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr2:181843800-181844600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:181843800-181844600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr2:181843800-181844600	Enhancers	Brain Cingulate Gyrus	brain
22	chr2:181843800-181844600	Enhancers	Fetal Muscle Leg	muscle
23	chr2:181843800-181848600	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr2:181843800-181849200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr2:181844000-181844200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr2:181844000-181844200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:181844000-181844200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr2:181844000-181844200	Enhancers	Primary hematopoietic stem cells	blood
29	chr2:181844000-181844200	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr2:181844000-181844200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:181844000-181844200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr2:181844000-181844200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr2:181844000-181844200	Enhancers	Colon Smooth Muscle	Colon
34	chr2:181844000-181844200	Enhancers	NHLF	lung
35	chr2:181844000-181844200	Enhancers	Osteobl	bone
36	chr2:181844000-181844400	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr2:181844000-181844400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
38	chr2:181844000-181844400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr2:181844000-181844400	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr2:181844000-181844400	Enhancers	Muscle Satellite Cultured Cells	--
41	chr2:181844000-181844400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr2:181844000-181844400	Enhancers	Brain Angular Gyrus	brain
43	chr2:181844000-181844400	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr2:181844000-181844600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
45	chr2:181844000-181844600	Enhancers	Fetal Brain Female	brain
46	chr2:181844000-181844600	Enhancers	Fetal Stomach	stomach
47	chr2:181844000-181844800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
48	chr2:181844000-181844800	Enhancers	Fetal Heart	heart
49	chr2:181844000-181844800	Flanking Active TSS	K562	blood
50	chr2:181844000-181845200	Active TSS	ES-I3 Cell Line	embryonic stem cell

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