Variant report

Variant	rs10748580
Chromosome Location	chr10:94105923-94105924
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	chr10:94105866-94105957	K562	blood:	n/a	chr10:94105922-94105933
2	EP300	chr10:94104715-94106056	ECC-1	luminal epithelium:	n/a	chr10:94105923-94105937 chr10:94104778-94104794
3	CEBPB	chr10:94105358-94106102	ECC-1	luminal epithelium:	n/a	chr10:94105922-94105933
4	CEBPB	chr10:94105784-94106095	HepG2	liver:	n/a	chr10:94105922-94105933
5	CEBPB	chr10:94105774-94106116	A549	lung:	n/a	chr10:94105922-94105933
6	TEAD4	chr10:94104834-94105928	ECC-1	luminal epithelium:	n/a	n/a
7	TCF12	chr10:94104640-94105984	ECC-1	luminal epithelium:	n/a	n/a

Variant related genes	Relation type
MARCH5	TF binding region

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10748577	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10748578	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10748579	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10786029	0.90[CHB][hapmap];0.91[JPT][hapmap]
rs10786033	0.84[EUR][1000 genomes]
rs10786037	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs10882028	0.84[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs10882042	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs11186914	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11186915	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2245994	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2253904	0.84[ASN][1000 genomes]
rs2254667	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2255718	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs2265195	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2488793	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2771248	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2771253	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2771256	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs2771265	0.81[ASN][1000 genomes]
rs2798254	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3781229	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs3824734	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs4933227	0.84[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs4933228	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs4933229	0.83[EUR][1000 genomes]
rs4933720	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4999831	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7078559	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs7087501	0.81[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs7090737	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs7091853	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs7094433	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7908721	0.83[EUR][1000 genomes]
rs7920520	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs913649	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs950732	0.83[EUR][1000 genomes]
rs9943333	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv975763	chr10:93822289-94105956	Enhancers Bivalent Enhancer Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv1046258	chr10:93866969-94466106	Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:94052000-94111800	Weak transcription	Gastric	stomach
2	chr10:94052200-94109400	Weak transcription	Esophagus	oesophagus
3	chr10:94052400-94108800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr10:94052400-94114600	Weak transcription	Colonic Mucosa	Colon
5	chr10:94052600-94109400	Weak transcription	HSMMtube	muscle
6	chr10:94053400-94109400	Weak transcription	Fetal Brain Male	brain
7	chr10:94063600-94109400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr10:94063600-94111800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr10:94064000-94109200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr10:94067000-94113400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr10:94071800-94108200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr10:94072200-94109000	Weak transcription	Brain Anterior Caudate	brain
13	chr10:94072200-94109400	Weak transcription	Aorta	Aorta
14	chr10:94074000-94109200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr10:94078400-94106800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr10:94081000-94109400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr10:94081000-94112800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr10:94087800-94108200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr10:94087800-94109200	Weak transcription	Ovary	ovary
20	chr10:94088000-94112200	Weak transcription	K562	blood
21	chr10:94089000-94114600	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr10:94089800-94114000	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr10:94090200-94109000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr10:94090600-94114800	Weak transcription	Small Intestine	intestine
25	chr10:94090800-94109200	Weak transcription	Hela-S3	cervix
26	chr10:94091200-94114000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr10:94091400-94108400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr10:94093200-94108600	Weak transcription	Right Atrium	heart
29	chr10:94094000-94108600	Weak transcription	Psoas Muscle	Psoas
30	chr10:94095200-94112000	Weak transcription	Brain Angular Gyrus	brain
31	chr10:94095400-94109200	Weak transcription	Colon Smooth Muscle	Colon
32	chr10:94095400-94112000	Weak transcription	Fetal Heart	heart
33	chr10:94098600-94108600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr10:94099200-94113400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr10:94099800-94106200	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr10:94100000-94106600	Strong transcription	Primary T cells from cord blood	blood
37	chr10:94100000-94111400	Strong transcription	Primary B cells from peripheral blood	blood
38	chr10:94100000-94111400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr10:94100000-94112000	Strong transcription	Fetal Thymus	thymus
40	chr10:94100200-94106200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr10:94100200-94106800	Strong transcription	Dnd41	blood
42	chr10:94100200-94107000	Strong transcription	Fetal Intestine Large	intestine
43	chr10:94100200-94113600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr10:94100400-94110600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr10:94101400-94108400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr10:94101400-94113400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr10:94101600-94109600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr10:94101600-94111400	Strong transcription	Primary hematopoietic stem cells	blood
49	chr10:94101800-94109600	Weak transcription	NH-A	brain
50	chr10:94101800-94112000	Strong transcription	Primary monocytes fromperipheralblood	blood

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