Variant report

Variant	rs6993440
Chromosome Location	chr8:110344599-110344600
allele	A/C
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	POLR2A	chr8:110344076-110347416	HUVEC	blood vessel:	n/a	n/a
2	GATA2	chr8:110344021-110345325	HUVEC	blood vessel:	n/a	chr8:110344140-110344150
3	ARID3A	chr8:110344361-110344824	K562	blood:	n/a	n/a
4	WRNIP1	chr8:110344484-110344824	GM12878	blood:	n/a	n/a
5	POLR2A	chr8:110344493-110344978	HepG2	liver:	n/a	n/a
6	POLR2A	chr8:110344477-110344992	GM12878	blood:	n/a	n/a
7	GATA1	chr8:110344274-110345714	PBDE	blood:	n/a	n/a
8	RCOR1	chr8:110344296-110345189	K562	blood:	n/a	n/a
9	SPI1	chr8:110344515-110345039	HL-60	blood:	n/a	chr8:110344767-110344776
10	MXI1	chr8:110344541-110347421	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:110271725..110274616-chr8:110342573..110345047,2	K562	blood:
2	chr8:110329016..110330835-chr8:110344049..110345997,2	MCF-7	breast:
3	chr8:110252748..110254805-chr8:110344261..110345885,2	K562	blood:
4	chr8:110343048..110346506-chr8:110655063..110657604,4	MCF-7	breast:

Variant related genes	Relation type
ENY2	TF binding region
NUDCD1	TF binding region
ENSG00000147642	Chromatin interaction
ENSG00000248050	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11985483	0.92[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs11990328	0.83[AFR][1000 genomes]
rs11997273	0.92[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs11997627	0.83[AFR][1000 genomes]
rs11998117	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs16879252	0.87[AFR][1000 genomes]
rs16879260	0.87[AFR][1000 genomes]
rs16879306	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6469251	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs6992830	0.83[AFR][1000 genomes]
rs7813597	0.95[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs7813911	0.80[AMR][1000 genomes]
rs7825760	0.93[AFR][1000 genomes];0.80[AMR][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	nsv891273	chr8:110219735-110475874	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv891279	chr8:110268104-110450092	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110324000-110345400	Weak transcription	Aorta	Aorta
2	chr8:110325200-110344800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr8:110328200-110345000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr8:110332000-110344600	Weak transcription	Primary B cells from cord blood	blood
5	chr8:110332600-110345400	Weak transcription	Fetal Muscle Trunk	muscle
6	chr8:110334800-110345400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr8:110339800-110344600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr8:110343400-110345600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr8:110343600-110344800	Enhancers	Fetal Intestine Small	intestine
10	chr8:110343600-110345200	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr8:110343600-110345400	Flanking Active TSS	HUVEC	blood vessel
12	chr8:110343800-110344600	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr8:110343800-110345000	Enhancers	Fetal Stomach	stomach
14	chr8:110343800-110347600	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr8:110344000-110344600	Active TSS	H1 Cell Line	embryonic stem cell
16	chr8:110344000-110344600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr8:110344000-110344600	Enhancers	Primary T cells from cord blood	blood
18	chr8:110344000-110344800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr8:110344000-110344800	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr8:110344000-110345000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr8:110344000-110345000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr8:110344000-110345000	Flanking Active TSS	K562	blood
23	chr8:110344000-110345400	Flanking Active TSS	Dnd41	blood
24	chr8:110344000-110346200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr8:110344000-110348000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr8:110344200-110344600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr8:110344200-110344600	Enhancers	Ovary	ovary
28	chr8:110344200-110344600	Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr8:110344200-110344600	Enhancers	Thymus	Thymus
30	chr8:110344200-110344600	Flanking Active TSS	NHDF-Ad	bronchial
31	chr8:110344200-110344600	Flanking Active TSS	NHLF	lung
32	chr8:110344200-110344800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr8:110344200-110344800	Enhancers	Brain Hippocampus Middle	brain
34	chr8:110344200-110344800	Enhancers	Fetal Kidney	kidney
35	chr8:110344200-110344800	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr8:110344200-110345000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
37	chr8:110344200-110345000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr8:110344200-110345000	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr8:110344200-110345000	Enhancers	Brain Cingulate Gyrus	brain
40	chr8:110344200-110345000	Flanking Active TSS	HepG2	liver
41	chr8:110344200-110345000	Flanking Active TSS	HMEC	breast
42	chr8:110344200-110345200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr8:110344200-110345200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr8:110344200-110345200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
45	chr8:110344200-110345200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr8:110344200-110345200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
47	chr8:110344200-110345200	Enhancers	Fetal Intestine Large	intestine
48	chr8:110344200-110345200	Flanking Active TSS	A549	lung
49	chr8:110344200-110345400	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr8:110344200-110345400	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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