Variant report

Variant	rs11196881
Chromosome Location	chr10:116451067-116451068
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	PBX3	chr10:116451044-116451801	SK-N-SH	brain:	n/a	n/a
2	GATA3	chr10:116450974-116451815	SK-N-SH	brain:	n/a	n/a
3	JUND	chr10:116451006-116451758	SK-N-SH	brain:	n/a	chr10:116451313-116451323 chr10:116451312-116451324 chr10:116451313-116451322 chr10:116451313-116451323 chr10:116451313-116451323 chr10:116451313-116451323
4	GATA3	chr10:116451060-116451721	SK-N-SH	brain:	n/a	n/a
5	FOSL2	chr10:116451016-116451662	SK-N-SH	brain:	n/a	chr10:116451313-116451323 chr10:116451312-116451324 chr10:116451313-116451322 chr10:116451313-116451323 chr10:116451313-116451323 chr10:116451313-116451323

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:116450951..116452471-chr17:41400809..41402597,2	MCF-7	breast:

Variant related genes	Relation type
PPIAP19	TF binding region

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1029789	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10885595	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10885597	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11196864	0.91[ASN][1000 genomes]
rs11196872	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11196874	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11196875	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1968122	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs217194	0.85[ASN][1000 genomes]
rs4752114	0.93[ASN][1000 genomes]
rs703347	0.82[ASN][1000 genomes]
rs703348	0.82[ASN][1000 genomes]
rs7075935	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7100793	0.97[ASN][1000 genomes]
rs719895	0.81[ASN][1000 genomes]
rs719896	0.83[ASN][1000 genomes]
rs808253	0.82[ASN][1000 genomes]
rs808256	0.83[ASN][1000 genomes]
rs808259	0.82[ASN][1000 genomes]
rs882870	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1037308	chr10:116141946-116519765	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv540780	chr10:116141946-116519765	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv949138	chr10:116311531-116874477	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1038050	chr10:116315109-116895719	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv533027	chr10:116344641-116856352	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	esv3435429	chr10:116394152-117006347	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	nsv948193	chr10:116448714-116451141	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:116444400-116452800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr10:116444400-116457200	Weak transcription	Esophagus	oesophagus
3	chr10:116445600-116452800	Weak transcription	Right Atrium	heart
4	chr10:116445600-116454000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr10:116445600-116455800	Weak transcription	Right Ventricle	heart
6	chr10:116445800-116454400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr10:116446000-116459200	Weak transcription	Fetal Intestine Small	intestine
8	chr10:116446200-116451400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr10:116446200-116456600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr10:116447200-116451200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr10:116447400-116451400	Weak transcription	Fetal Lung	lung
12	chr10:116447400-116452400	Weak transcription	Left Ventricle	heart
13	chr10:116447600-116451200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr10:116448000-116451200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr10:116448000-116455600	Weak transcription	Adipose Nuclei	Adipose
16	chr10:116448400-116451200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr10:116448400-116455800	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr10:116450200-116453200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr10:116450400-116452000	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr10:116450600-116453000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr10:116450800-116451200	Bivalent Enhancer	Osteobl	bone
22	chr10:116450800-116451800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr10:116450800-116451800	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr10:116450800-116451800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr10:116450800-116451800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr10:116450800-116451800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr10:116450800-116452000	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr10:116450800-116452000	Enhancers	Muscle Satellite Cultured Cells	--
29	chr10:116450800-116452000	Enhancers	Brain Hippocampus Middle	brain
30	chr10:116450800-116452000	Enhancers	Fetal Heart	heart
31	chr10:116450800-116452000	Enhancers	NH-A	brain
32	chr10:116450800-116452000	Enhancers	NHDF-Ad	bronchial
33	chr10:116450800-116452200	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr10:116450800-116452200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr10:116450800-116452200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr10:116450800-116452200	Enhancers	Hela-S3	cervix
37	chr10:116450800-116452200	Enhancers	HMEC	breast
38	chr10:116450800-116452200	Enhancers	HSMM	muscle
39	chr10:116450800-116452200	Enhancers	HSMMtube	muscle
40	chr10:116450800-116453000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr10:116451000-116451200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
42	chr10:116451000-116451200	Weak transcription	Fetal Kidney	kidney
43	chr10:116451000-116451600	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr10:116451000-116451600	Active TSS	Fetal Brain Male	brain
45	chr10:116451000-116451600	Enhancers	HUVEC	blood vessel
46	chr10:116451000-116451800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr10:116451000-116451800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr10:116451000-116451800	Enhancers	Pancreatic Islets	Pancreatic Islet
49	chr10:116451000-116451800	Flanking Active TSS	A549	lung
50	chr10:116451000-116451800	Enhancers	NHEK	skin

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