Variant report

Variant	rs10279323
Chromosome Location	chr7:100879113-100879114
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:100878014..100879951-chr8:124343860..124346085,2	MCF-7	breast:
2	chr7:100877402..100879348-chr7:100936060..100938109,2	K562	blood:
3	chr7:100859877..100865511-chr7:100878168..100882490,7	MCF-7	breast:
4	chr7:100860395..100863048-chr7:100877305..100879229,2	K562	blood:
5	chr7:100843554..100845548-chr7:100877846..100879601,2	MCF-7	breast:
6	chr7:100858078..100863048-chr7:100877305..100880612,5	K562	blood:
7	chr7:100805874..100808334-chr7:100877307..100880298,2	MCF-7	breast:
8	chr7:100796478..100797998-chr7:100877208..100879812,2	K562	blood:
9	chr7:100878550..100881686-chr7:100893113..100895457,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000106367	Chromatin interaction
ENSG00000106397	Chromatin interaction
ENSG00000214253	Chromatin interaction
ENSG00000106384	Chromatin interaction
ENSG00000106400	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10215517	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10265282	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10271895	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2227700	1.00[AMR][1000 genomes]
rs28429010	0.86[AFR][1000 genomes]
rs56037105	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56115622	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56134317	1.00[AMR][1000 genomes]
rs56908565	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56947489	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57225690	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58061448	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58680639	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59337995	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59928515	1.00[AMR][1000 genomes]
rs73713814	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831075	chr7:100692297-100917018	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv933653	chr7:100701931-101515782	Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv1030604	chr7:100717732-101223465	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	esv2422376	chr7:100743485-101016471	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
5	nsv534186	chr7:100773842-100898909	Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	nsv464651	chr7:100792810-100971604	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
7	nsv607974	chr7:100792810-100971604	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
8	nsv429788	chr7:100799565-101178565	Weak transcription Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
9	esv2752134	chr7:100800131-101141867	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
10	nsv464652	chr7:100804140-100881640	Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
11	nsv607976	chr7:100804140-100881640	Enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
12	nsv888817	chr7:100804140-100881640	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
13	nsv607977	chr7:100818846-100881640	Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
14	nsv831076	chr7:100828847-101011674	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
15	nsv888818	chr7:100833153-100895480	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
16	nsv888819	chr7:100833153-100920007	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
17	esv2422326	chr7:100833449-101000131	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
18	nsv607978	chr7:100861213-100971604	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
19	nsv831077	chr7:100874209-101083930	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100862400-100887000	Weak transcription	Fetal Kidney	kidney
2	chr7:100863800-100884000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr7:100863800-100886800	Weak transcription	Psoas Muscle	Psoas
4	chr7:100863800-100886800	Weak transcription	Hela-S3	cervix
5	chr7:100865000-100884800	Strong transcription	Thymus	Thymus
6	chr7:100867600-100880400	Weak transcription	Aorta	Aorta
7	chr7:100868400-100887600	Weak transcription	Small Intestine	intestine
8	chr7:100868800-100880400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr7:100868800-100880600	Weak transcription	GM12878-XiMat	blood
10	chr7:100868800-100881600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr7:100868800-100884200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr7:100869000-100879200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr7:100869200-100879800	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr7:100869200-100881600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr7:100871000-100880600	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr7:100871000-100880600	Weak transcription	Brain Substantia Nigra	brain
17	chr7:100871200-100880200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:100871800-100879800	Weak transcription	Brain Cingulate Gyrus	brain
19	chr7:100872000-100880600	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr7:100872000-100880600	Weak transcription	HSMM	muscle
21	chr7:100872200-100880600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr7:100872200-100880600	Weak transcription	HSMMtube	muscle
23	chr7:100872200-100881800	Weak transcription	Primary B cells from cord blood	blood
24	chr7:100872600-100879200	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr7:100872600-100879600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr7:100872600-100879800	Weak transcription	Dnd41	blood
27	chr7:100872800-100880200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr7:100872800-100880200	Weak transcription	Osteobl	bone
29	chr7:100872800-100880800	Weak transcription	Primary B cells from peripheral blood	blood
30	chr7:100874400-100880000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr7:100875400-100880200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr7:100875400-100880400	Weak transcription	Colon Smooth Muscle	Colon
33	chr7:100875400-100881400	Weak transcription	A549	lung
34	chr7:100875600-100879600	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr7:100875600-100880000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr7:100875600-100880600	Weak transcription	NHDF-Ad	bronchial
37	chr7:100875600-100880800	Weak transcription	Fetal Lung	lung
38	chr7:100875800-100879800	Weak transcription	Adipose Nuclei	Adipose
39	chr7:100875800-100880600	Weak transcription	Brain Angular Gyrus	brain
40	chr7:100875800-100880600	Weak transcription	Brain Anterior Caudate	brain
41	chr7:100875800-100880600	Weak transcription	Left Ventricle	heart
42	chr7:100875800-100880600	Weak transcription	Ovary	ovary
43	chr7:100876000-100879400	Weak transcription	Pancreas	Pancrea
44	chr7:100876000-100880200	Weak transcription	Right Ventricle	heart
45	chr7:100876000-100880200	Weak transcription	Stomach Smooth Muscle	stomach
46	chr7:100876000-100880600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr7:100876000-100880600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr7:100876000-100880600	Weak transcription	Right Atrium	heart
49	chr7:100876000-100880600	Weak transcription	HUVEC	blood vessel
50	chr7:100876000-100887000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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