Variant report

Variant	rs16888683
Chromosome Location	chr8:117727154-117727155
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:117559500..117561656-chr8:117726423..117728497,2	MCF-7	breast:
2	chr8:117725990..117728034-chr8:117766012..117768818,2	K562	blood:
3	chr8:117726657..117728747-chr8:117735773..117737696,2	MCF-7	breast:
4	chr8:117721346..117724076-chr8:117724107..117727227,4	K562	blood:
5	chr8:117726723..117730275-chr8:117737114..117740946,5	K562	blood:

Variant related genes	Relation type
ENSG00000147677	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10505285	0.94[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10808485	0.83[YRI][hapmap]
rs12541272	0.84[AFR][1000 genomes]
rs12545964	0.80[AFR][1000 genomes]
rs12547063	0.94[YRI][hapmap];0.86[AFR][1000 genomes]
rs12548586	0.91[AFR][1000 genomes]
rs1343663	0.93[AFR][1000 genomes]
rs16888614	0.84[AFR][1000 genomes]
rs16888615	0.83[YRI][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs16888619	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs16888625	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs16888629	0.89[AMR][1000 genomes]
rs16888632	0.85[AFR][1000 genomes]
rs16888650	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16888705	0.93[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16888709	0.93[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16888721	0.94[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2366	0.92[AFR][1000 genomes]
rs4130879	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41339048	0.93[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56998977	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs59843956	0.82[AFR][1000 genomes]
rs73322481	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs73324025	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7844973	0.86[AFR][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	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117707800-117732600	Weak transcription	Fetal Thymus	thymus
2	chr8:117708000-117733200	Weak transcription	Hela-S3	cervix
3	chr8:117708600-117732800	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr8:117708600-117733200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr8:117708600-117733200	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr8:117713200-117730800	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr8:117716000-117730800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr8:117716000-117733400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr8:117716400-117727800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:117717800-117732600	Weak transcription	Primary B cells from cord blood	blood
11	chr8:117718000-117733400	Weak transcription	Right Ventricle	heart
12	chr8:117718600-117730800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr8:117718800-117732600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr8:117719200-117731400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr8:117719200-117732600	Weak transcription	Gastric	stomach
16	chr8:117719200-117732600	Weak transcription	Left Ventricle	heart
17	chr8:117719200-117733200	Weak transcription	Pancreas	Pancrea
18	chr8:117719400-117729000	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr8:117719400-117733200	Weak transcription	Ovary	ovary
20	chr8:117721600-117732600	Weak transcription	Primary hematopoietic stem cells	blood
21	chr8:117721800-117728000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr8:117722000-117735600	Weak transcription	Brain Hippocampus Middle	brain
23	chr8:117722000-117740800	Weak transcription	NHLF	lung
24	chr8:117722200-117730400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr8:117722200-117730800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr8:117722400-117731200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr8:117722400-117732600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr8:117722400-117732600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr8:117722400-117732600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr8:117722400-117732800	Weak transcription	Brain Cingulate Gyrus	brain
31	chr8:117722400-117732800	Weak transcription	HMEC	breast
32	chr8:117722400-117733200	Weak transcription	Aorta	Aorta
33	chr8:117722400-117733200	Weak transcription	Duodenum Mucosa	Duodenum
34	chr8:117722400-117738800	Weak transcription	Small Intestine	intestine
35	chr8:117722600-117727200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr8:117722600-117731400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr8:117722600-117732600	Weak transcription	K562	blood
38	chr8:117722600-117740800	Weak transcription	HSMMtube	muscle
39	chr8:117722800-117731400	Weak transcription	Fetal Brain Female	brain
40	chr8:117723000-117727600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr8:117723000-117732600	Weak transcription	Dnd41	blood
42	chr8:117723200-117732200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr8:117724400-117728600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr8:117724600-117727200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr8:117724600-117732600	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr8:117724600-117733200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr8:117724600-117738800	Weak transcription	Psoas Muscle	Psoas
48	chr8:117724800-117732600	Weak transcription	Fetal Heart	heart
49	chr8:117725000-117727200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr8:117725400-117729000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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