Variant report

Variant	rs2938483
Chromosome Location	chr17:46318004-46318005
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:46297106..46299092-chr17:46317071..46320031,2	K562	blood:
2	chr17:46304702..46306804-chr17:46316986..46319945,3	K562	blood:
3	chr17:46317007..46319839-chr17:46328201..46331501,3	K562	blood:
4	chr17:46312738..46316050-chr17:46317088..46320426,4	K562	blood:
5	chr17:46316932..46321831-chr17:46322420..46326261,9	K562	blood:
6	chr17:46297106..46299092-chr17:46317071..46320404,3	K562	blood:
7	chr17:46237804..46239741-chr17:46316113..46318637,2	MCF-7	breast:
8	chr17:46260519..46263689-chr17:46315938..46318852,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000263787	Chromatin interaction
ENSG00000141293	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs1002330	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10445339	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10445377	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10853098	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11079814	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11870056	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11872095	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12150533	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12452956	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12939334	0.84[ASN][1000 genomes]
rs12941830	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12946208	0.84[ASN][1000 genomes]
rs12947089	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12948810	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs12952670	0.81[EUR][1000 genomes]
rs1316657	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1377201	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1452666	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1452667	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16954268	0.83[ASN][1000 genomes]
rs16954324	0.82[ASN][1000 genomes]
rs17620033	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17681336	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1860862	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1860863	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1979897	0.82[ASN][1000 genomes]
rs2021752	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2021811	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2041572	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2060876	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2109982	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2123341	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2278868	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2305433	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2924257	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34949267	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3792692	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3792694	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3805363	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3805370	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3805371	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3897789	0.84[ASN][1000 genomes]
rs3897986	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3944039	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4793779	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4794505	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4794517	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4794525	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55982346	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62066447	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6504108	0.92[ASN][1000 genomes]
rs67345313	0.84[ASN][1000 genomes]
rs7210149	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7213876	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7219967	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7220619	0.80[ASN][1000 genomes]
rs7220768	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7220922	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7223867	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7225435	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7225550	0.80[AFR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7225865	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7501770	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs758999	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8069064	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8069263	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8072282	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8075270	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs882380	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs954226	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9889470	0.84[ASN][1000 genomes]

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46266800-46318200	Weak transcription	Primary B cells from peripheral blood	blood
2	chr17:46306600-46335400	Weak transcription	Thymus	Thymus
3	chr17:46312800-46318800	Enhancers	HUVEC	blood vessel
4	chr17:46314000-46318200	Enhancers	NHDF-Ad	bronchial
5	chr17:46314200-46320200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr17:46315200-46319400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr17:46315800-46319600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr17:46315800-46319600	Enhancers	HMEC	breast
9	chr17:46315800-46319800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr17:46315800-46319800	Enhancers	HSMM	muscle
11	chr17:46315800-46319800	Enhancers	Osteobl	bone
12	chr17:46315800-46323000	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr17:46316000-46318600	Weak transcription	Right Atrium	heart
14	chr17:46316400-46319600	Enhancers	NH-A	brain
15	chr17:46316400-46322800	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr17:46316400-46324600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr17:46316600-46319800	Enhancers	Fetal Muscle Leg	muscle
18	chr17:46316600-46320200	Enhancers	Fetal Kidney	kidney
19	chr17:46316600-46320600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr17:46317000-46319000	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr17:46317200-46318800	Enhancers	Colon Smooth Muscle	Colon
22	chr17:46317200-46319000	Enhancers	HSMMtube	muscle
23	chr17:46317200-46320000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr17:46317200-46320200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr17:46317200-46322600	Enhancers	Fetal Intestine Small	intestine
26	chr17:46317200-46324000	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr17:46317400-46318600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr17:46317400-46319200	Enhancers	Brain Germinal Matrix	brain
29	chr17:46317400-46319200	Enhancers	Fetal Heart	heart
30	chr17:46317400-46319800	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr17:46317400-46319800	Enhancers	Adipose Nuclei	Adipose
32	chr17:46317400-46319800	Enhancers	Small Intestine	intestine
33	chr17:46317400-46322400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr17:46317400-46322800	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr17:46317400-46322800	Enhancers	Fetal Intestine Large	intestine
36	chr17:46317600-46319200	Enhancers	Muscle Satellite Cultured Cells	--
37	chr17:46317600-46319400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr17:46317600-46319400	Enhancers	Primary hematopoietic stem cells	blood
39	chr17:46317600-46319400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr17:46317600-46319600	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr17:46317600-46319600	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr17:46317600-46319600	Enhancers	Fetal Lung	lung
43	chr17:46317600-46319800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr17:46317600-46319800	Enhancers	Primary T cells fromperipheralblood	blood
45	chr17:46317600-46319800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr17:46317600-46319800	Enhancers	Fetal Stomach	stomach
47	chr17:46317600-46320400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr17:46317800-46318800	Genic enhancers	Primary T cells from cord blood	blood
49	chr17:46317800-46319000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr17:46317800-46319000	Enhancers	Rectal Mucosa Donor 31	rectum

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