Variant report

Variant	rs7518869
Chromosome Location	chr1:165633344-165633345
allele	C/T
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	chr1:165632999-165633414	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr1:165632430-165633529	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:165631082..165632723-chr1:165632759..165634670,2	K562	blood:

Variant related genes	Relation type
ENSG00000206990	TF binding region
ENSG00000206990	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10918234	1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1577847	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2348730	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6426927	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6426928	0.92[CEU][hapmap];0.92[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6426930	1.00[CEU][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6667681	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6668102	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6690818	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7511691	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7516126	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7533986	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7534359	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7544840	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7551594	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7553712	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7554409	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165606200-165659600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:165618000-165638600	Strong transcription	Cortex derived primary cultured neurospheres	brain
3	chr1:165618200-165652400	Strong transcription	Fetal Muscle Leg	muscle
4	chr1:165618600-165634800	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr1:165618800-165638600	Strong transcription	Fetal Intestine Large	intestine
6	chr1:165619000-165635000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:165619000-165642600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr1:165619000-165643600	Strong transcription	Fetal Muscle Trunk	muscle
9	chr1:165619200-165634200	Strong transcription	Stomach Smooth Muscle	stomach
10	chr1:165619200-165648800	Strong transcription	Liver	Liver
11	chr1:165619400-165636200	Strong transcription	Adipose Nuclei	Adipose
12	chr1:165619600-165642600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:165619600-165653200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr1:165621000-165634400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr1:165623400-165653000	Weak transcription	Stomach Mucosa	stomach
16	chr1:165623800-165636400	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr1:165627200-165637400	Weak transcription	Right Ventricle	heart
18	chr1:165627600-165636600	Weak transcription	Psoas Muscle	Psoas
19	chr1:165628000-165634600	Strong transcription	Brain Hippocampus Middle	brain
20	chr1:165628000-165646600	Strong transcription	Primary T cells from cord blood	blood
21	chr1:165628600-165634400	Strong transcription	Lung	lung
22	chr1:165628600-165634400	Strong transcription	Skeletal Muscle Female	skeletal muscle
23	chr1:165628800-165634400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr1:165628800-165634400	Strong transcription	Brain Cingulate Gyrus	brain
25	chr1:165628800-165634600	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr1:165628800-165639000	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr1:165628800-165639000	Strong transcription	Rectal Mucosa Donor 31	rectum
28	chr1:165628800-165640200	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr1:165628800-165642000	Strong transcription	HSMM	muscle
30	chr1:165628800-165642200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr1:165628800-165644000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr1:165628800-165646800	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr1:165628800-165646800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr1:165629000-165634800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr1:165629000-165635400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr1:165629000-165638600	Strong transcription	Brain Substantia Nigra	brain
37	chr1:165629000-165639400	Strong transcription	Placenta	Placenta
38	chr1:165629000-165653600	Strong transcription	Dnd41	blood
39	chr1:165629200-165633600	Strong transcription	Gastric	stomach
40	chr1:165629200-165634200	Strong transcription	Skeletal Muscle Male	skeletal muscle
41	chr1:165629200-165635200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr1:165629200-165638600	Strong transcription	Sigmoid Colon	Sigmoid Colon
43	chr1:165629200-165638800	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr1:165629200-165641600	Strong transcription	Duodenum Mucosa	Duodenum
45	chr1:165629200-165642800	Strong transcription	Primary hematopoietic stem cells	blood
46	chr1:165629200-165643600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr1:165629400-165635200	Strong transcription	NHLF	lung
48	chr1:165629400-165642200	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr1:165629400-165642600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr1:165629400-165652800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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