Variant report

Variant	rs3814552
Chromosome Location	chr10:99257015-99257016
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	MAZ	chr10:99256928-99259975	IMR90	lung:	n/a	chr10:99258254-99258265 chr10:99258920-99258930 chr10:99258255-99258264 chr10:99256992-99257001 chr10:99259189-99259199 chr10:99258671-99258681 chr10:99259326-99259336

No.	Distal block	Cell Line	Cell type
1	chr10:99256769..99258998-chr15:71406274..71408704,2	MCF-7	breast:
2	chr10:99205729..99207747-chr10:99256104..99259230,4	MCF-7	breast:
3	chr10:99184102..99187983-chr10:99256299..99259028,4	MCF-7	breast:
4	chr10:99226678..99229676-chr10:99256675..99258497,3	K562	blood:
5	chr10:99256761..99259494-chr10:99495841..99497583,3	K562	blood:
6	chr10:99255590..99258774-chr10:99331777..99334688,4	MCF-7	breast:
7	chr10:99255036..99258001-chr10:99391751..99393858,2	K562	blood:
8	chr10:99256903..99258777-chr10:99359333..99362265,3	MCF-7	breast:
9	chr10:99159358..99162440-chr10:99256931..99260180,3	MCF-7	breast:
10	chr10:99204416..99207741-chr10:99255231..99259773,5	K562	blood:
11	chr10:99186982..99190152-chr10:99256815..99259689,3	K562	blood:
12	chr10:99256533..99260506-chr10:99329939..99335950,10	MCF-7	breast:
13	chr10:99230735..99233202-chr10:99255020..99257889,3	MCF-7	breast:

Variant related genes	Relation type
UBTD1	TF binding region
ENSG00000052749	Chromatin interaction
ENSG00000171307	Chromatin interaction
ENSG00000224474	Chromatin interaction
ENSG00000231970	Chromatin interaction
ENSG00000171311	Chromatin interaction
ENSG00000171160	Chromatin interaction
ENSG00000225362	Chromatin interaction
ENSG00000155229	Chromatin interaction
ENSG00000241935	Chromatin interaction
ENSG00000171314	Chromatin interaction
ENSG00000155256	Chromatin interaction
ENSG00000165887	Chromatin interaction

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

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

rs_ID	r²[population]
rs11189254	0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[ASN][1000 genomes]
rs12245837	1.00[JPT][hapmap]
rs12259524	0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap]
rs17107905	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17108072	1.00[JPT][hapmap]
rs17108114	1.00[JPT][hapmap]
rs17112803	1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs17112837	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1889545	0.82[JPT][hapmap];1.00[YRI][hapmap]
rs2275588	0.82[JPT][hapmap]
rs2861953	1.00[YRI][hapmap]
rs28987106	1.00[AMR][1000 genomes]
rs29001266	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs29001273	1.00[AMR][1000 genomes]
rs29001325	1.00[AMR][1000 genomes]
rs4418736	0.91[CHD][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap]
rs4919098	0.91[CHD][hapmap];0.82[JPT][hapmap]
rs4919110	1.00[JPT][hapmap]
rs7089713	1.00[CHB][hapmap];0.92[CHD][hapmap]
rs7912825	0.82[JPT][hapmap]
rs928604	0.91[CHD][hapmap];0.82[JPT][hapmap]
rs946984	1.00[CHB][hapmap]
rs946987	1.00[CHB][hapmap];0.92[CHD][hapmap]
rs964733	0.91[CHD][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap]

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	esv1817777	chr10:99196035-99558169	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 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	chr10:99239400-99257400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr10:99240800-99257400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr10:99244200-99257200	Weak transcription	Placenta	Placenta
4	chr10:99250800-99257400	Weak transcription	Ovary	ovary
5	chr10:99252200-99257200	Enhancers	Brain Cingulate Gyrus	brain
6	chr10:99253000-99257200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr10:99253000-99257200	Enhancers	Right Atrium	heart
8	chr10:99253200-99257200	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr10:99253400-99257200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
10	chr10:99253400-99257200	Weak transcription	Fetal Muscle Trunk	muscle
11	chr10:99253600-99257200	Enhancers	Fetal Heart	heart
12	chr10:99253800-99257200	Enhancers	Primary T cells fromperipheralblood	blood
13	chr10:99253800-99257200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr10:99254200-99257200	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr10:99254400-99257200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr10:99254400-99257400	Enhancers	Fetal Lung	lung
17	chr10:99254600-99257400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr10:99254800-99257200	Enhancers	Primary B cells from peripheral blood	blood
19	chr10:99254800-99257200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr10:99255000-99257400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr10:99255000-99257400	Weak transcription	Spleen	Spleen
22	chr10:99255200-99257200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr10:99255200-99257200	Weak transcription	Right Ventricle	heart
24	chr10:99255200-99257400	Weak transcription	Stomach Mucosa	stomach
25	chr10:99255400-99257200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr10:99255400-99257200	Enhancers	Thymus	Thymus
27	chr10:99255600-99257200	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr10:99255800-99257400	Enhancers	Colon Smooth Muscle	Colon
29	chr10:99255800-99257400	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr10:99256000-99257200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr10:99256000-99257400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr10:99256200-99257200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr10:99256200-99257400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr10:99256200-99257400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr10:99256200-99257400	Weak transcription	Esophagus	oesophagus
36	chr10:99256200-99257400	Weak transcription	Gastric	stomach
37	chr10:99256200-99257400	Weak transcription	Left Ventricle	heart
38	chr10:99256200-99257400	Weak transcription	Pancreas	Pancrea
39	chr10:99256400-99257200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr10:99256400-99257400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
41	chr10:99256400-99259400	Active TSS	K562	blood
42	chr10:99256600-99257200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr10:99256600-99257200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr10:99256600-99257200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr10:99256600-99257200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
46	chr10:99256600-99257200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr10:99256600-99257200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
48	chr10:99256600-99257200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr10:99256600-99257200	Flanking Active TSS	HMEC	breast
50	chr10:99256600-99257800	Flanking Active TSS	Fetal Brain Female	brain

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