Variant report

Variant	rs11989364
Chromosome Location	chr8:124815700-124815701
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:124814571..124816997-chr8:124820753..124822991,2	MCF-7	breast:
2	chr8:124805880..124808291-chr8:124814398..124816910,2	MCF-7	breast:
3	chr8:124779397..124782009-chr8:124814310..124816091,2	K562	blood:
4	chr8:124814412..124816720-chr8:124818333..124820559,2	MCF-7	breast:
5	chr8:124807128..124809976-chr8:124813752..124817670,3	K562	blood:
6	chr8:124789924..124791442-chr8:124814631..124817453,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000176853	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11987639	0.93[EUR][1000 genomes]
rs11989474	0.93[EUR][1000 genomes]
rs13439358	0.90[EUR][1000 genomes]
rs1431669	0.93[EUR][1000 genomes]
rs16898846	0.93[EUR][1000 genomes]
rs16898882	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17260118	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17351356	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17351672	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17351749	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17351770	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17352222	0.93[EUR][1000 genomes]
rs2116361	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28490169	0.96[EUR][1000 genomes]
rs6985701	0.96[EUR][1000 genomes]
rs6990465	0.90[EUR][1000 genomes]
rs6994690	0.93[EUR][1000 genomes]
rs7007309	0.90[EUR][1000 genomes]
rs7010092	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7013861	0.93[EUR][1000 genomes]
rs7016623	0.93[EUR][1000 genomes]
rs73333723	0.93[EUR][1000 genomes]
rs73703653	0.93[EUR][1000 genomes]
rs73703655	0.90[EUR][1000 genomes]
rs73703656	0.93[EUR][1000 genomes]
rs7821509	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	nsv831451	chr8:124710946-124885148	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv972575	chr8:124810138-124821383	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124785800-124829000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr8:124786000-124825200	Strong transcription	Fetal Thymus	thymus
3	chr8:124786200-124825200	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr8:124786400-124827200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr8:124787000-124816400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr8:124787000-124822800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr8:124787000-124827000	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr8:124787600-124818800	Strong transcription	Liver	Liver
9	chr8:124789200-124824600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr8:124789400-124821600	Weak transcription	Stomach Mucosa	stomach
11	chr8:124789400-124825200	Strong transcription	Rectal Mucosa Donor 31	rectum
12	chr8:124789800-124827400	Strong transcription	Primary T helper cells PMA-I stimulated	--
13	chr8:124790000-124827800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr8:124790200-124828600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr8:124790800-124815800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr8:124790800-124825200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr8:124791000-124828600	Strong transcription	Primary B cells from cord blood	blood
18	chr8:124791000-124828600	Strong transcription	Primary B cells from peripheral blood	blood
19	chr8:124791200-124815800	Strong transcription	Adipose Nuclei	Adipose
20	chr8:124791200-124828600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr8:124791200-124828600	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr8:124791200-124829000	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr8:124791200-124829200	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr8:124791400-124816000	Strong transcription	Primary T cells from cord blood	blood
25	chr8:124793400-124815800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr8:124793600-124815800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr8:124793800-124815800	Strong transcription	Fetal Muscle Leg	muscle
28	chr8:124794200-124825000	Strong transcription	Primary hematopoietic stem cells	blood
29	chr8:124797800-124826000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:124798400-124826400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr8:124799400-124821400	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr8:124799600-124822600	Weak transcription	Small Intestine	intestine
33	chr8:124800200-124822600	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr8:124801800-124816000	Strong transcription	Sigmoid Colon	Sigmoid Colon
35	chr8:124806800-124828400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr8:124808200-124816400	Strong transcription	NHEK	skin
37	chr8:124808200-124825000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr8:124808400-124819400	Weak transcription	Spleen	Spleen
39	chr8:124808400-124820000	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr8:124808400-124831600	Weak transcription	Esophagus	oesophagus
41	chr8:124808600-124819200	Weak transcription	Fetal Heart	heart
42	chr8:124808600-124822800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr8:124809000-124819400	Weak transcription	Right Ventricle	heart
44	chr8:124809200-124819600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr8:124809400-124816000	Strong transcription	NHDF-Ad	bronchial
46	chr8:124809800-124819200	Weak transcription	Aorta	Aorta
47	chr8:124809800-124833600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr8:124810200-124829600	Weak transcription	Pancreas	Pancrea
49	chr8:124810600-124817600	Weak transcription	Hela-S3	cervix
50	chr8:124810600-124818400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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