Variant report

Variant	rs11997039
Chromosome Location	chr8:105496767-105496768
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	BCL3	chr8:105496506-105496893	GM12878	blood:	n/a	n/a
2	POLR2A	chr8:105496745-105497034	K562	blood:	n/a	n/a
3	POLR2A	chr8:105494376-105512670	K562	blood:	n/a	n/a
4	POLR2A	chr8:105496419-105498281	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
MIR548A3	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs58509923	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61491060	1.00[AMR][1000 genomes]
rs6984745	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6998025	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs73697448	1.00[AMR][1000 genomes]
rs73697472	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7825427	0.82[YRI][hapmap];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016087	chr8:105228670-105934368	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1026754	chr8:105382508-106030916	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv539709	chr8:105382508-106030916	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	nsv831417	chr8:105455814-105625608	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105485800-105503000	Weak transcription	HSMM	muscle
2	chr8:105485800-105503000	Weak transcription	HSMMtube	muscle
3	chr8:105489400-105512800	Weak transcription	Gastric	stomach
4	chr8:105489600-105503000	Weak transcription	Left Ventricle	heart
5	chr8:105491000-105502600	Weak transcription	Brain Anterior Caudate	brain
6	chr8:105491400-105510000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr8:105491400-105517200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr8:105492200-105505800	Weak transcription	Stomach Smooth Muscle	stomach
9	chr8:105493200-105503000	Weak transcription	GM12878-XiMat	blood
10	chr8:105493400-105502000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr8:105493400-105503000	Weak transcription	Primary hematopoietic stem cells	blood
12	chr8:105493800-105502800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr8:105493800-105502800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr8:105494000-105502600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr8:105494600-105502800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr8:105495000-105502800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr8:105495000-105503000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr8:105495200-105500800	Weak transcription	Dnd41	blood
19	chr8:105495200-105502800	Weak transcription	Primary T cells from cord blood	blood
20	chr8:105495200-105503000	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr8:105495200-105503000	Weak transcription	Fetal Thymus	thymus
22	chr8:105495400-105502000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr8:105495400-105502600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr8:105495400-105502600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr8:105495400-105502800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:105495400-105503000	Weak transcription	Fetal Brain Female	brain
27	chr8:105495400-105503000	Weak transcription	Thymus	Thymus
28	chr8:105495400-105507200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr8:105495600-105503000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr8:105495600-105509200	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr8:105495600-105525800	Weak transcription	Psoas Muscle	Psoas
32	chr8:105495800-105502800	Weak transcription	Fetal Heart	heart
33	chr8:105496400-105503000	Weak transcription	Fetal Muscle Leg	muscle
34	chr8:105496600-105497000	Strong transcription	Aorta	Aorta
35	chr8:105496600-105497200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr8:105496600-105501800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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