Variant report

Variant	rs28450849
Chromosome Location	chr5:43378148-43378149
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:43312430..43314252-chr5:43377523..43379864,2	MCF-7	breast:
2	chr5:43109727..43112275-chr5:43377801..43380719,2	K562	blood:

Variant related genes	Relation type
ENSG00000112972	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10037409	1.00[EUR][1000 genomes]
rs10038859	1.00[EUR][1000 genomes]
rs10040897	1.00[EUR][1000 genomes]
rs10043148	1.00[EUR][1000 genomes]
rs10052384	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10054415	0.86[EUR][1000 genomes]
rs10056437	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10062031	1.00[EUR][1000 genomes]
rs10062121	1.00[EUR][1000 genomes]
rs10062598	1.00[EUR][1000 genomes]
rs10064967	1.00[EUR][1000 genomes]
rs10067763	0.86[EUR][1000 genomes]
rs10077324	0.86[EUR][1000 genomes]
rs10079530	0.86[EUR][1000 genomes]
rs10472379	0.86[EUR][1000 genomes]
rs10473306	0.86[EUR][1000 genomes]
rs10473308	1.00[EUR][1000 genomes]
rs11955467	0.86[EUR][1000 genomes]
rs1478436	0.86[EUR][1000 genomes]
rs16874093	0.86[EUR][1000 genomes]
rs28608156	0.86[EUR][1000 genomes]
rs28856961	1.00[EUR][1000 genomes]
rs4326149	0.86[EUR][1000 genomes]
rs55645370	0.86[EUR][1000 genomes]
rs60520238	0.86[EUR][1000 genomes]
rs6865440	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6884349	0.86[EUR][1000 genomes]
rs6892413	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6893898	0.86[EUR][1000 genomes]
rs7356654	1.00[EUR][1000 genomes]
rs73751075	0.86[EUR][1000 genomes]
rs73751078	1.00[EUR][1000 genomes]
rs73751082	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73751083	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7710717	0.86[EUR][1000 genomes]
rs7715267	0.86[EUR][1000 genomes]
rs7729140	0.86[EUR][1000 genomes]
rs7729145	0.86[EUR][1000 genomes]
rs7733732	0.86[EUR][1000 genomes]
rs9292869	0.86[EUR][1000 genomes]
rs9292870	0.86[EUR][1000 genomes]
rs9292872	0.86[EUR][1000 genomes]
rs9292875	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	nsv508352	chr5:43237830-43391062	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	esv3413029	chr5:43377145-43379143	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43367200-43386400	Weak transcription	Pancreas	Pancrea
2	chr5:43368400-43381600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr5:43368600-43389800	Weak transcription	Stomach Mucosa	stomach
4	chr5:43368800-43396400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr5:43369000-43387000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr5:43369200-43386800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:43370000-43396200	Weak transcription	Primary B cells from cord blood	blood
8	chr5:43371000-43379000	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr5:43371800-43396800	Weak transcription	Small Intestine	intestine
10	chr5:43372200-43396800	Weak transcription	Gastric	stomach
11	chr5:43372800-43382000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr5:43373200-43396400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr5:43374400-43381600	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr5:43374600-43396400	Weak transcription	Adipose Nuclei	Adipose
15	chr5:43375000-43378200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr5:43375000-43387000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr5:43375000-43396800	Weak transcription	Spleen	Spleen
18	chr5:43375200-43379600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr5:43375200-43379600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr5:43375400-43387200	Weak transcription	Thymus	Thymus
21	chr5:43376200-43378800	Strong transcription	Duodenum Mucosa	Duodenum
22	chr5:43376200-43378800	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr5:43376200-43382600	Strong transcription	Primary T helper cells PMA-I stimulated	--
24	chr5:43376200-43389800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr5:43376400-43382200	Strong transcription	Sigmoid Colon	Sigmoid Colon
26	chr5:43376600-43384800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr5:43376600-43384800	Strong transcription	Rectal Mucosa Donor 31	rectum
28	chr5:43376800-43381000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr5:43376800-43386800	Weak transcription	HMEC	breast
30	chr5:43377000-43381800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr5:43377000-43387000	Weak transcription	Lung	lung
32	chr5:43377200-43379600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr5:43377200-43379600	Weak transcription	Primary B cells from peripheral blood	blood
34	chr5:43377200-43379600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr5:43377200-43381200	Weak transcription	Primary hematopoietic stem cells	blood
36	chr5:43377200-43381800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr5:43377200-43396800	Weak transcription	Colonic Mucosa	Colon
38	chr5:43377400-43378400	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr5:43377400-43379400	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr5:43377400-43379600	Weak transcription	Primary T cells from cord blood	blood
41	chr5:43377400-43379600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr5:43377600-43380600	Weak transcription	Fetal Intestine Small	intestine
43	chr5:43377800-43379400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr5:43378000-43378600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood

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