Variant report

Variant	rs6990968
Chromosome Location	chr8:54745864-54745865
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	CEBPB	chr8:54745594-54745911	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:54743278..54745985-chr8:54748911..54752561,4	K562	blood:

Variant related genes	Relation type
ATP6V1H	TF binding region
ENSG00000047249	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11992220	1.00[EUR][1000 genomes]
rs16919505	0.89[ASW][hapmap];0.82[MKK][hapmap];1.00[EUR][1000 genomes]
rs59473857	1.00[EUR][1000 genomes]
rs59549579	1.00[EUR][1000 genomes]
rs60709944	1.00[EUR][1000 genomes]
rs7001356	1.00[EUR][1000 genomes]
rs7001915	1.00[EUR][1000 genomes]
rs7018154	1.00[EUR][1000 genomes]
rs73587669	1.00[EUR][1000 genomes]
rs73680388	1.00[EUR][1000 genomes]
rs7463527	1.00[EUR][1000 genomes]
rs7463528	1.00[EUR][1000 genomes]
rs7818005	1.00[EUR][1000 genomes]
rs7821654	1.00[EUR][1000 genomes]
rs7845632	1.00[EUR][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	nsv1021775	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv539621	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54687600-54753600	Weak transcription	A549	lung
2	chr8:54710200-54755000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr8:54713000-54750000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr8:54714600-54754000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr8:54720600-54752400	Weak transcription	Small Intestine	intestine
6	chr8:54724800-54754800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr8:54728200-54752200	Weak transcription	Stomach Mucosa	stomach
8	chr8:54732600-54752800	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr8:54734400-54748200	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr8:54735200-54752800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:54735200-54753200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr8:54735800-54753600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:54736200-54752800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr8:54737600-54746200	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr8:54737600-54749400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr8:54737600-54752800	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr8:54737800-54750400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr8:54737800-54752800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr8:54738000-54750200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr8:54738200-54749400	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr8:54738200-54752600	Strong transcription	Primary B cells from peripheral blood	blood
22	chr8:54738600-54746600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr8:54738600-54750600	Strong transcription	Duodenum Mucosa	Duodenum
24	chr8:54738600-54751600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr8:54738600-54751600	Strong transcription	Dnd41	blood
26	chr8:54738600-54751800	Strong transcription	Primary T cells from cord blood	blood
27	chr8:54738600-54753000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr8:54738600-54753800	Strong transcription	Fetal Thymus	thymus
29	chr8:54738800-54746400	Strong transcription	Placenta	Placenta
30	chr8:54738800-54746800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr8:54738800-54754800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr8:54738800-54755000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:54739200-54752800	Strong transcription	Fetal Intestine Large	intestine
34	chr8:54739400-54746800	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr8:54739400-54749000	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr8:54740200-54746400	Strong transcription	HSMM	muscle
37	chr8:54741000-54750200	Weak transcription	Pancreas	Pancrea
38	chr8:54741200-54751800	Weak transcription	Fetal Heart	heart
39	chr8:54741200-54754000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr8:54741600-54753600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr8:54741600-54753800	Weak transcription	Right Ventricle	heart
42	chr8:54741800-54746200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr8:54741800-54746200	Weak transcription	Brain Hippocampus Middle	brain
44	chr8:54741800-54747000	Weak transcription	Fetal Intestine Small	intestine
45	chr8:54741800-54747800	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr8:54741800-54748400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr8:54741800-54750200	Weak transcription	Esophagus	oesophagus
48	chr8:54741800-54751400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr8:54741800-54751600	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr8:54741800-54752200	Weak transcription	Aorta	Aorta

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