Variant report

Variant	rs35516187
Chromosome Location	chr2:10728972-10728973
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	EBF1	chr2:10728796-10729064	GM12878	blood:	n/a	chr2:10728940-10728953 chr2:10728983-10728994 chr2:10728940-10728951

Variant related genes	Relation type
ENSG00000234818	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1012580	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1546026	0.91[AFR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17455388	0.90[AFR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2287059	0.81[AFR][1000 genomes]
rs6728944	0.83[AFR][1000 genomes]
rs7603803	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs764526	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007185	chr2:10540386-10791743	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv833370	chr2:10625149-10785402	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv1009897	chr2:10627248-10751468	Enhancers Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv1000953	chr2:10717304-10921805	Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv535584	chr2:10717304-10921805	Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv833381	chr2:10723465-10911284	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 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	chr2:10698600-10736600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:10705800-10736000	Strong transcription	Duodenum Mucosa	Duodenum
3	chr2:10708600-10732000	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr2:10708800-10732800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr2:10709200-10746800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr2:10709400-10732600	Strong transcription	Primary B cells from cord blood	blood
7	chr2:10712600-10742000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr2:10717600-10732400	Weak transcription	Fetal Brain Male	brain
9	chr2:10717800-10729000	Weak transcription	Small Intestine	intestine
10	chr2:10718000-10732000	Weak transcription	Brain Cingulate Gyrus	brain
11	chr2:10719400-10729000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr2:10719800-10746600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr2:10720000-10746400	Strong transcription	Dnd41	blood
14	chr2:10720400-10740200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr2:10720800-10739200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr2:10721000-10729000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr2:10721000-10755000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr2:10721200-10734600	Strong transcription	GM12878-XiMat	blood
19	chr2:10721200-10746800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr2:10721400-10731200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr2:10721400-10735800	Strong transcription	Primary T cells from cord blood	blood
22	chr2:10721600-10731800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr2:10721600-10735600	Strong transcription	Primary T helper cells PMA-I stimulated	--
24	chr2:10722000-10735200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr2:10722000-10738200	Strong transcription	Fetal Muscle Leg	muscle
26	chr2:10722400-10734800	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr2:10722400-10735200	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr2:10722800-10731400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr2:10722800-10732400	Strong transcription	Fetal Thymus	thymus
30	chr2:10722800-10741400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:10723800-10729800	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr2:10724000-10735600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr2:10724200-10730800	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr2:10724600-10729000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr2:10724600-10731400	Weak transcription	Esophagus	oesophagus
36	chr2:10725600-10729000	Weak transcription	Left Ventricle	heart
37	chr2:10725600-10744000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:10725600-10758800	Weak transcription	Stomach Mucosa	stomach
39	chr2:10725600-10793400	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr2:10725800-10729000	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr2:10725800-10787000	Weak transcription	Fetal Heart	heart
42	chr2:10726000-10729600	Strong transcription	Brain Germinal Matrix	brain
43	chr2:10726000-10730400	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr2:10726000-10731400	Strong transcription	Osteobl	bone
45	chr2:10726000-10732400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr2:10726000-10738400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr2:10726000-10746200	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr2:10726000-10747600	Strong transcription	HepG2	liver
49	chr2:10726200-10732800	Strong transcription	Fetal Stomach	stomach
50	chr2:10727000-10731000	Strong transcription	A549	lung

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