Variant report

Variant	rs7006219
Chromosome Location	chr8:66539212-66539213
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:66536010..66541591-chr8:66543618..66546783,7	K562	blood:
2	chr8:66538337..66541485-chr8:66544938..66547674,5	MCF-7	breast:
3	chr8:66538964..66541698-chr8:66621567..66623438,2	K562	blood:

Variant related genes	Relation type
ENSG00000104442	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs16932237	1.00[ASW][hapmap];0.93[LWK][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4424306	0.95[YRI][hapmap]
rs7814342	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7820840	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761434	chr8:65578467-66567678	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 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	chr8:66504000-66545200	Weak transcription	Fetal Brain Male	brain
2	chr8:66506800-66545200	Weak transcription	Stomach Mucosa	stomach
3	chr8:66508000-66545200	Weak transcription	Fetal Heart	heart
4	chr8:66518000-66545600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:66519600-66545200	Weak transcription	Right Atrium	heart
6	chr8:66520000-66545000	Weak transcription	NHEK	skin
7	chr8:66520400-66539600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:66522600-66545200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr8:66525600-66545200	Weak transcription	Fetal Kidney	kidney
10	chr8:66527600-66539600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr8:66529200-66541800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr8:66529600-66539600	Strong transcription	Fetal Intestine Large	intestine
13	chr8:66529600-66539800	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr8:66529600-66540200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr8:66529600-66540400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:66529600-66541800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr8:66529800-66539600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr8:66529800-66539600	Strong transcription	Fetal Muscle Leg	muscle
19	chr8:66529800-66539800	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr8:66529800-66540000	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr8:66529800-66540000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr8:66529800-66540000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr8:66529800-66540000	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr8:66529800-66540200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr8:66529800-66540400	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr8:66529800-66540600	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr8:66529800-66540600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr8:66529800-66540600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr8:66529800-66540600	Strong transcription	Duodenum Mucosa	Duodenum
30	chr8:66529800-66541800	Strong transcription	Fetal Thymus	thymus
31	chr8:66529800-66542000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr8:66530000-66540600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
33	chr8:66530000-66540600	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr8:66530000-66541200	Strong transcription	Fetal Muscle Trunk	muscle
35	chr8:66530200-66545000	Weak transcription	Hela-S3	cervix
36	chr8:66530600-66539600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr8:66530600-66540600	Strong transcription	Adipose Nuclei	Adipose
38	chr8:66530600-66541400	Strong transcription	Fetal Intestine Small	intestine
39	chr8:66530800-66539600	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr8:66530800-66540200	Strong transcription	Primary B cells from peripheral blood	blood
41	chr8:66530800-66540200	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr8:66531400-66539800	Strong transcription	Ovary	ovary
43	chr8:66532000-66545600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr8:66532400-66545600	Weak transcription	Aorta	Aorta
45	chr8:66532800-66539800	Strong transcription	GM12878-XiMat	blood
46	chr8:66533600-66542600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr8:66533600-66545200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr8:66534000-66545200	Weak transcription	Brain Angular Gyrus	brain
49	chr8:66534200-66545200	Weak transcription	Colonic Mucosa	Colon
50	chr8:66534400-66545200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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