Variant report

Variant	rs1351077
Chromosome Location	chr9:21592004-21592005
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:37356320..37357046-chr9:21591367..21592107,2	Hela-S3	cervix:
2	chr9:21559603..21561116-chr9:21590002..21592420,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171889	Chromatin interaction
ENSG00000108298	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10491563	1.00[AFR][1000 genomes]
rs10491564	1.00[AFR][1000 genomes]
rs10964990	1.00[AFR][1000 genomes]
rs10964991	1.00[AFR][1000 genomes]
rs10964992	1.00[AFR][1000 genomes]
rs12686498	1.00[AFR][1000 genomes]
rs13294656	1.00[AFR][1000 genomes]
rs16938465	1.00[AFR][1000 genomes]
rs16938468	1.00[AFR][1000 genomes]
rs4585835	1.00[AFR][1000 genomes]
rs4977727	1.00[AFR][1000 genomes]
rs4978118	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031432	chr9:21472601-21608774	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	122 gene(s)	inside rSNPs	diseases
2	nsv540085	chr9:21472601-21608774	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	122 gene(s)	inside rSNPs	diseases
3	nsv1029634	chr9:21542970-21765286	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1015623	chr9:21579110-21694039	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
5	nsv892742	chr9:21589041-21707372	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1351077	BCLAF1	trans	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:21575800-21592200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr9:21580000-21594800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr9:21589400-21592200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
4	chr9:21589600-21593000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr9:21590400-21592400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr9:21590400-21592400	Flanking Active TSS	Osteobl	bone
7	chr9:21590800-21592600	Enhancers	HSMM	muscle
8	chr9:21591200-21592200	Flanking Active TSS	Hela-S3	cervix
9	chr9:21591200-21592400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr9:21591200-21592600	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr9:21591200-21593600	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr9:21591400-21592200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr9:21591400-21592200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr9:21591400-21592400	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr9:21591400-21592600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr9:21591400-21592800	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr9:21591400-21592800	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr9:21591400-21592800	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr9:21591400-21592800	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr9:21591400-21593600	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr9:21591400-21593600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr9:21591600-21592400	Enhancers	H1 Cell Line	embryonic stem cell
23	chr9:21591600-21592400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr9:21591600-21592400	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr9:21591600-21592800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr9:21591600-21592800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr9:21591800-21592200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr9:21591800-21592200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr9:21591800-21592200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr9:21591800-21592200	Flanking Active TSS	NHEK	skin
31	chr9:21591800-21592400	Enhancers	H9 Cell Line	embryonic stem cell
32	chr9:21591800-21592400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr9:21591800-21592400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr9:21591800-21592400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr9:21591800-21592600	Enhancers	HMEC	breast
36	chr9:21591800-21592600	Enhancers	HSMMtube	muscle
37	chr9:21591800-21592800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr9:21591800-21592800	Enhancers	NHDF-Ad	bronchial
39	chr9:21591800-21592800	Enhancers	NHLF	lung
40	chr9:21591800-21593600	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr9:21592000-21592200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr9:21592000-21592200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr9:21592000-21592200	Flanking Active TSS	NH-A	brain
44	chr9:21592000-21592400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr9:21592000-21592400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr9:21592000-21592600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr9:21592000-21592800	Enhancers	HUVEC	blood vessel
48	chr9:21592000-21593000	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr9:21592000-21593000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr9:21592000-21593000	Flanking Active TSS	A549	lung

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