Variant report

Variant	rs7786948
Chromosome Location	chr7:116503852-116503853
allele	G/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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:116449194..116452032-chr7:116500966..116504304,4	MCF-7	breast:
2	7:115847372-115857098..7:116503335-116504229	Hela-S3	cervix:
3	chr7:116502425..116505177-chr7:116515500..116518644,3	K562	blood:
4	chr7:116502823..116504965-chr7:116592665..116594956,3	K562	blood:
5	chr7:116501025..116504036-chr7:116513935..116518644,4	K562	blood:
6	chr7:116501242..116506265-chr7:116510058..116522773,18	MCF-7	breast:
7	chr7:116500946..116504332-chr7:116654661..116656841,4	K562	blood:
8	chr7:116501669..116504720-chr7:116591889..116594956,5	K562	blood:
9	chr7:116502166..116506934-chr7:116591377..116594260,5	MCF-7	breast:
10	chr7:116503087..116504687-chr7:116661264..116663427,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000135269	Chromatin interaction
ENSG00000004866	Chromatin interaction
ENSG00000227199	Chromatin interaction
ENSG00000235945	Chromatin interaction
ENSG00000198898	Chromatin interaction
ENSG00000214188	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1060513	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1060514	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11981133	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6952406	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6961375	0.96[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6967466	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7777997	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7780748	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7790214	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7791219	0.82[AFR][1000 genomes]
rs7796146	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831107	chr7:116414734-116649466	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116502000-116504000	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr7:116502000-116504000	Active TSS	Sigmoid Colon	Sigmoid Colon
3	chr7:116502000-116504800	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr7:116502000-116504800	Active TSS	Stomach Smooth Muscle	stomach
5	chr7:116502000-116505000	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr7:116502200-116504200	Active TSS	H9 Cell Line	embryonic stem cell
7	chr7:116502200-116504200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr7:116502200-116504200	Active TSS	Lung	lung
9	chr7:116502200-116504400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr7:116502200-116504400	Active TSS	Fetal Brain Female	brain
11	chr7:116502200-116504400	Active TSS	Fetal Muscle Trunk	muscle
12	chr7:116502200-116504400	Active TSS	Ovary	ovary
13	chr7:116502200-116504600	Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr7:116502200-116504600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr7:116502200-116504600	Active TSS	Fetal Kidney	kidney
16	chr7:116502200-116504600	Active TSS	HSMM	muscle
17	chr7:116502200-116505000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr7:116502200-116505200	Active TSS	Psoas Muscle	Psoas
19	chr7:116502200-116505200	Active TSS	GM12878-XiMat	blood
20	chr7:116502400-116504000	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr7:116502400-116504000	Active TSS	Fetal Thymus	thymus
22	chr7:116502400-116504000	Active TSS	K562	blood
23	chr7:116502400-116504000	Active TSS	NH-A	brain
24	chr7:116502400-116504200	Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr7:116502400-116504200	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr7:116502400-116504200	Active TSS	iPS-18 Cell Line	embryonic stem cell
27	chr7:116502400-116504200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr7:116502400-116504200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr7:116502400-116504200	Active TSS	Colon Smooth Muscle	Colon
30	chr7:116502400-116504200	Active TSS	Duodenum Mucosa	Duodenum
31	chr7:116502400-116504200	Active TSS	Hela-S3	cervix
32	chr7:116502400-116504400	Active TSS	H1 Cell Line	embryonic stem cell
33	chr7:116502400-116504400	Active TSS	Brain Angular Gyrus	brain
34	chr7:116502400-116504400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr7:116502400-116504400	Active TSS	Fetal Intestine Large	intestine
36	chr7:116502400-116504400	Active TSS	Fetal Intestine Small	intestine
37	chr7:116502400-116504400	Active TSS	Rectal Smooth Muscle	rectum
38	chr7:116502400-116504600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr7:116502400-116504600	Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr7:116502400-116504600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr7:116502400-116504600	Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr7:116502400-116504600	Active TSS	Muscle Satellite Cultured Cells	--
43	chr7:116502400-116504600	Active TSS	Fetal Stomach	stomach
44	chr7:116502400-116504600	Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr7:116502400-116504600	Active TSS	A549	lung
46	chr7:116502400-116504600	Active TSS	HUVEC	blood vessel
47	chr7:116502400-116504800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr7:116502400-116504800	Active TSS	Fetal Muscle Leg	muscle
49	chr7:116502400-116504800	Active TSS	NHLF	lung
50	chr7:116502400-116505000	Active TSS	HUES64 Cell Line	embryonic stem cell

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