Variant report

Variant	rs28465518
Chromosome Location	chr7:33423885-33423886
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10230991	0.81[AFR][1000 genomes]
rs10235943	0.81[AFR][1000 genomes]
rs10236358	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10243590	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10245418	0.83[AFR][1000 genomes]
rs10250312	0.81[AFR][1000 genomes]
rs10252552	0.83[AFR][1000 genomes]
rs10252935	0.81[AFR][1000 genomes]
rs10253352	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10253574	1.00[EUR][1000 genomes]
rs10257379	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10259513	0.81[AFR][1000 genomes]
rs10259674	0.83[AFR][1000 genomes]
rs10266641	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10270137	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10272446	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10276929	0.83[AFR][1000 genomes]
rs10951385	0.91[AFR][1000 genomes]
rs12112737	1.00[EUR][1000 genomes]
rs12333380	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12334131	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12669847	0.81[AFR][1000 genomes]
rs12672071	0.81[AFR][1000 genomes]
rs12672496	0.83[AFR][1000 genomes]
rs28478218	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28564487	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28622379	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28673971	0.81[AFR][1000 genomes]
rs3779240	0.83[AFR][1000 genomes]
rs4298411	1.00[AFR][1000 genomes]
rs9785054	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv606610	chr7:33218763-33486316	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1016416	chr7:33241443-33559477	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv916660	chr7:33272493-33506384	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv830944	chr7:33389892-33549882	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:33384000-33425400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr7:33387000-33425200	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr7:33389000-33437400	Weak transcription	Liver	Liver
4	chr7:33394400-33427800	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr7:33403000-33427400	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr7:33403400-33437800	Weak transcription	Brain Substantia Nigra	brain
7	chr7:33403800-33430400	Weak transcription	Brain Hippocampus Middle	brain
8	chr7:33404000-33433000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr7:33406000-33425400	Weak transcription	Primary B cells from cord blood	blood
10	chr7:33406400-33425400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr7:33407000-33429600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr7:33408200-33431000	Weak transcription	Primary hematopoietic stem cells	blood
13	chr7:33408200-33434600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr7:33408600-33434400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr7:33411800-33431000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr7:33412200-33433200	Weak transcription	Psoas Muscle	Psoas
17	chr7:33413400-33424400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:33417200-33427800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr7:33417200-33430400	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr7:33417400-33429600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr7:33418000-33438600	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr7:33418200-33425200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr7:33418200-33436400	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr7:33418400-33424800	Weak transcription	Brain Germinal Matrix	brain
25	chr7:33418600-33434800	Weak transcription	Fetal Kidney	kidney
26	chr7:33418800-33429200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr7:33419000-33436800	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr7:33419600-33427800	Weak transcription	HSMMtube	muscle
29	chr7:33420000-33427600	Weak transcription	HSMM	muscle
30	chr7:33420000-33433200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr7:33420000-33435000	Weak transcription	Brain Anterior Caudate	brain
32	chr7:33420200-33425200	Weak transcription	Gastric	stomach
33	chr7:33420200-33425400	Weak transcription	Colonic Mucosa	Colon
34	chr7:33420400-33425200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr7:33420400-33425800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr7:33420400-33428000	Weak transcription	Thymus	Thymus
37	chr7:33420400-33431800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr7:33420400-33435000	Weak transcription	Brain Cingulate Gyrus	brain
39	chr7:33420400-33436400	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr7:33420400-33444600	Weak transcription	Left Ventricle	heart
41	chr7:33420600-33425200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr7:33420600-33425200	Weak transcription	Lung	lung
43	chr7:33420600-33425400	Weak transcription	Fetal Intestine Small	intestine
44	chr7:33420600-33425400	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr7:33420600-33425400	Weak transcription	Spleen	Spleen
46	chr7:33420600-33427600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr7:33420600-33427600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr7:33420600-33427600	Weak transcription	Adipose Nuclei	Adipose
49	chr7:33420600-33428400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr7:33420600-33429600	Weak transcription	H9 Cell Line	embryonic stem cell

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