Variant report

Variant	rs28449354
Chromosome Location	chr7:87487629-87487630
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:87484204..87488219-chr7:87489245..87493082,6	K562	blood:
2	chr7:87485338..87488263-chr7:87488457..87489975,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000075303	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10215700	0.89[EUR][1000 genomes]
rs10215973	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10226830	0.80[EUR][1000 genomes]
rs10226849	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10227951	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10230718	0.89[EUR][1000 genomes]
rs10232457	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10237097	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10237201	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10238564	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10239908	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10239922	0.94[EUR][1000 genomes]
rs10244734	0.85[EUR][1000 genomes]
rs10245767	0.89[EUR][1000 genomes]
rs10246786	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10247258	0.89[EUR][1000 genomes]
rs10252990	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10253106	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10259182	0.89[EUR][1000 genomes]
rs10260007	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10264856	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10268868	0.89[EUR][1000 genomes]
rs10269158	0.85[EUR][1000 genomes]
rs10276499	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10276819	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10952899	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12532279	0.89[EUR][1000 genomes]
rs12532941	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12533477	0.89[EUR][1000 genomes]
rs12539395	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12540032	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12669619	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13438651	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17149864	0.85[EUR][1000 genomes]
rs17150009	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2073985	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2106522	0.85[EUR][1000 genomes]
rs2157926	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2188527	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2188828	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2214101	0.85[EUR][1000 genomes]
rs2214106	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2285646	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2285649	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2373574	0.87[EUR][1000 genomes]
rs28437979	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28449219	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28537604	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28546778	0.89[EUR][1000 genomes]
rs28627774	0.89[EUR][1000 genomes]
rs28642834	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28645115	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28774398	0.89[EUR][1000 genomes]
rs28831998	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58638862	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59058733	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6465117	0.85[EUR][1000 genomes]
rs6948061	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6952943	0.89[EUR][1000 genomes]
rs6972098	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73706914	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73706916	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73706922	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73706924	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73706950	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7790722	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7798074	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7801337	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9655954	0.89[EUR][1000 genomes]
rs9655955	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs976602	0.89[EUR][1000 genomes]
rs992422	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv888677	chr7:86802025-87781111	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv464622	chr7:86832603-87541248	Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv607725	chr7:86832603-87541248	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv1015862	chr7:87075394-88049798	Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv1023352	chr7:87418818-88192925	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv539005	chr7:87418818-88192925	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:87460600-87498000	Weak transcription	Fetal Heart	heart
2	chr7:87464000-87488400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr7:87464600-87487800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr7:87467800-87494800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr7:87468800-87489600	Strong transcription	Dnd41	blood
6	chr7:87469800-87491000	Weak transcription	Brain Angular Gyrus	brain
7	chr7:87470200-87499600	Weak transcription	NHEK	skin
8	chr7:87471000-87495600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr7:87471200-87495600	Weak transcription	Right Ventricle	heart
10	chr7:87471200-87499800	Weak transcription	NHLF	lung
11	chr7:87472200-87489200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr7:87472800-87489200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr7:87472800-87493600	Weak transcription	Esophagus	oesophagus
14	chr7:87473000-87493400	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr7:87473200-87495800	Weak transcription	Lung	lung
16	chr7:87474800-87488600	Weak transcription	Colonic Mucosa	Colon
17	chr7:87475000-87494800	Weak transcription	Pancreas	Pancrea
18	chr7:87475000-87495800	Weak transcription	Aorta	Aorta
19	chr7:87475000-87495800	Weak transcription	Spleen	Spleen
20	chr7:87475000-87500000	Weak transcription	Gastric	stomach
21	chr7:87475200-87495200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr7:87476000-87495200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr7:87477400-87488200	Weak transcription	Stomach Mucosa	stomach
24	chr7:87479200-87489600	Weak transcription	NHDF-Ad	bronchial
25	chr7:87480200-87494800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr7:87481000-87487800	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr7:87481000-87503800	Weak transcription	NH-A	brain
28	chr7:87481200-87504000	Weak transcription	Osteobl	bone
29	chr7:87482000-87488600	Weak transcription	Fetal Brain Male	brain
30	chr7:87482200-87488800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr7:87482200-87503200	Weak transcription	HMEC	breast
32	chr7:87482800-87494800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr7:87483000-87489600	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr7:87483200-87488800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr7:87483200-87494000	Weak transcription	A549	lung
36	chr7:87483200-87495600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr7:87483800-87487800	Weak transcription	Hela-S3	cervix
38	chr7:87484400-87489000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr7:87484600-87488600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr7:87484600-87490400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr7:87484800-87489600	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr7:87484800-87489600	Strong transcription	Fetal Thymus	thymus
43	chr7:87485000-87489000	Strong transcription	Liver	Liver
44	chr7:87485200-87487800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr7:87485200-87488400	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr7:87485200-87490600	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr7:87485400-87488800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr7:87485400-87489800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr7:87485600-87489800	Strong transcription	Primary B cells from peripheral blood	blood
50	chr7:87485600-87495600	Weak transcription	Small Intestine	intestine

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