Variant report

Variant	rs7072816
Chromosome Location	chr10:112718216-112718217
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	chr10:112715561..112718440-chr10:112723385..112726017,2	K562	blood:

Variant related genes	Relation type
ENSG00000108061	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10787287	0.85[EUR][1000 genomes]
rs10787292	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10885075	0.91[AFR][1000 genomes]
rs1327548	0.87[EUR][1000 genomes]
rs1359849	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1410054	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1410057	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1581886	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17128202	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1980869	0.82[ASN][1000 genomes]
rs4309090	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6421360	0.91[AFR][1000 genomes]
rs6585027	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7075507	0.89[AFR][1000 genomes]
rs7082572	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7086350	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7088364	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7089193	0.91[AFR][1000 genomes]
rs7095404	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7101075	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7895872	0.81[EUR][1000 genomes]
rs7899762	0.85[EUR][1000 genomes]
rs7917192	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7922142	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051566	chr10:112580049-112730573	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv1035602	chr10:112636053-112781413	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv1051327	chr10:112650316-112772917	ZNF genes & repeats Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv540774	chr10:112650316-112772917	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv831985	chr10:112652089-112803103	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv1047865	chr10:112660427-112730573	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv1048809	chr10:112683822-112781413	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
8	nsv1042020	chr10:112686323-112795159	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:112682000-112732400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr10:112685200-112719200	Weak transcription	A549	lung
3	chr10:112692000-112722000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr10:112692400-112719000	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr10:112692400-112719000	Weak transcription	Stomach Smooth Muscle	stomach
6	chr10:112692400-112724000	Weak transcription	Stomach Mucosa	stomach
7	chr10:112692600-112732400	Weak transcription	Fetal Intestine Large	intestine
8	chr10:112693600-112719200	Weak transcription	Small Intestine	intestine
9	chr10:112693600-112722000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr10:112695400-112722400	Weak transcription	Colonic Mucosa	Colon
11	chr10:112697200-112720400	Weak transcription	Ovary	ovary
12	chr10:112697200-112740200	Weak transcription	Thymus	Thymus
13	chr10:112697200-112745400	Weak transcription	Duodenum Mucosa	Duodenum
14	chr10:112698000-112724000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr10:112700600-112764000	Weak transcription	Placenta	Placenta
16	chr10:112701200-112726800	Weak transcription	Dnd41	blood
17	chr10:112702200-112722000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr10:112702400-112754800	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr10:112703600-112721400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr10:112703800-112720800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr10:112703800-112724200	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr10:112703800-112725800	Weak transcription	HUVEC	blood vessel
23	chr10:112703800-112729000	Weak transcription	Brain Cingulate Gyrus	brain
24	chr10:112704800-112719000	Weak transcription	Colon Smooth Muscle	Colon
25	chr10:112705200-112789800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr10:112705400-112721200	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr10:112705800-112719000	Weak transcription	Adipose Nuclei	Adipose
28	chr10:112705800-112725400	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr10:112707000-112719000	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr10:112707200-112719000	Weak transcription	NHDF-Ad	bronchial
31	chr10:112707200-112724000	Weak transcription	Right Ventricle	heart
32	chr10:112707200-112724200	Weak transcription	Gastric	stomach
33	chr10:112707200-112724400	Weak transcription	Aorta	Aorta
34	chr10:112707200-112725400	Weak transcription	Osteobl	bone
35	chr10:112707200-112726200	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr10:112707200-112732200	Weak transcription	Pancreas	Pancrea
37	chr10:112707200-112732200	Weak transcription	NHEK	skin
38	chr10:112707200-112732400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr10:112707200-112737600	Weak transcription	Psoas Muscle	Psoas
40	chr10:112707200-112738800	Weak transcription	NH-A	brain
41	chr10:112707200-112755000	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr10:112707200-112784200	Weak transcription	Left Ventricle	heart
43	chr10:112709000-112724400	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr10:112709000-112760000	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr10:112709600-112718800	Weak transcription	Rectal Smooth Muscle	rectum
46	chr10:112709600-112721400	Weak transcription	Brain Germinal Matrix	brain
47	chr10:112710000-112736400	Weak transcription	HSMM	muscle
48	chr10:112711800-112735600	Weak transcription	Fetal Intestine Small	intestine
49	chr10:112712200-112725400	Weak transcription	NHLF	lung
50	chr10:112712200-112732400	Weak transcription	Sigmoid Colon	Sigmoid Colon

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