Variant report

Variant	rs28449219
Chromosome Location	chr7:87480345-87480346
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:87479852..87482412-chr7:87505863..87507613,2	K562	blood:
2	chr7:87474370..87476732-chr7:87479358..87481066,2	K562	blood:
3	chr7:87479852..87481981-chr7:87505863..87508138,2	K562	blood:

Variant related genes	Relation type
ENSG00000006634	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	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10215973	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10226830	0.86[EUR][1000 genomes]
rs10226849	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10227951	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10230718	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10232457	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10237097	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10237201	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10238564	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10239908	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10239922	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10244734	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10245767	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10246786	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10247258	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10252990	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10253106	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10259182	0.96[EUR][1000 genomes]
rs10260007	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10264856	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10268868	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10269158	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10276499	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10276819	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10952899	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12532279	0.96[EUR][1000 genomes]
rs12532941	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12533477	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12539395	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12540032	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12669619	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13438651	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17149864	0.91[EUR][1000 genomes]
rs17150009	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2073985	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2106522	0.91[EUR][1000 genomes]
rs2157926	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2188527	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2188828	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2214101	0.91[EUR][1000 genomes]
rs2214106	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2285646	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2285649	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2373574	0.93[EUR][1000 genomes]
rs28437979	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28449354	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28537604	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28546778	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28627774	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28642834	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28645115	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28774398	0.96[EUR][1000 genomes]
rs28831998	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58638862	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59058733	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6465117	0.91[EUR][1000 genomes]
rs6948061	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6952943	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6972098	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73706914	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73706916	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73706922	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73706924	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73706950	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7790722	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7798074	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7801337	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9655954	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9655955	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs976602	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs992422	0.96[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:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:87455200-87486600	Weak transcription	Brain Germinal Matrix	brain
2	chr7:87458600-87480400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr7:87459200-87482400	Weak transcription	A549	lung
4	chr7:87459800-87480600	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr7:87460400-87487200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr7:87460600-87481200	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr7:87460600-87481600	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr7:87460600-87498000	Weak transcription	Fetal Heart	heart
9	chr7:87461200-87486600	Weak transcription	Psoas Muscle	Psoas
10	chr7:87461400-87486800	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr7:87461600-87481600	Weak transcription	Fetal Lung	lung
12	chr7:87463400-87482600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr7:87463400-87487000	Weak transcription	Brain Hippocampus Middle	brain
14	chr7:87464000-87488400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr7:87464600-87487800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr7:87466200-87483000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr7:87466800-87487000	Weak transcription	Colon Smooth Muscle	Colon
18	chr7:87467200-87480800	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr7:87467200-87487200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:87467600-87481000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr7:87467600-87486600	Weak transcription	Fetal Kidney	kidney
22	chr7:87467800-87481000	Weak transcription	Hela-S3	cervix
23	chr7:87467800-87487000	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr7:87467800-87494800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr7:87468200-87487000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr7:87468400-87487200	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr7:87468800-87489600	Strong transcription	Dnd41	blood
28	chr7:87469800-87491000	Weak transcription	Brain Angular Gyrus	brain
29	chr7:87470200-87499600	Weak transcription	NHEK	skin
30	chr7:87471000-87495600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr7:87471200-87495600	Weak transcription	Right Ventricle	heart
32	chr7:87471200-87499800	Weak transcription	NHLF	lung
33	chr7:87472200-87489200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr7:87472600-87481600	Weak transcription	Fetal Brain Male	brain
35	chr7:87472800-87486800	Weak transcription	Placenta	Placenta
36	chr7:87472800-87489200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr7:87472800-87493600	Weak transcription	Esophagus	oesophagus
38	chr7:87473000-87493400	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr7:87473200-87486600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr7:87473200-87486800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr7:87473200-87487200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr7:87473200-87495800	Weak transcription	Lung	lung
43	chr7:87473400-87486600	Weak transcription	Brain Substantia Nigra	brain
44	chr7:87473800-87482000	Weak transcription	HMEC	breast
45	chr7:87474200-87481800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr7:87474200-87483200	Strong transcription	Fetal Intestine Large	intestine
47	chr7:87474800-87480800	Weak transcription	Fetal Intestine Small	intestine
48	chr7:87474800-87487200	Weak transcription	Ovary	ovary
49	chr7:87474800-87488600	Weak transcription	Colonic Mucosa	Colon
50	chr7:87475000-87480600	Weak transcription	Thymus	Thymus

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