Variant report

Variant	rs60877331
Chromosome Location	chr7:116815988-116815989
allele	A/G
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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	7:115890993-115892266..7:116815356-116819789	H1-hESC	embryonic stem cell:	embryo
2	chr7:116814889..116816602-chr7:116825361..116827913,2	K562	blood:
3	chr7:116815451..116817275-chr7:116818297..116820072,2	K562	blood:
4	chr7:116810203..116814227-chr7:116814859..116819852,6	K562	blood:
5	chr7:116815293..116817614-chr7:116850400..116852673,2	K562	blood:
6	chr7:116814344..116816793-chr7:116850400..116853227,2	K562	blood:
7	chr7:116811833..116813341-chr7:116814870..116817383,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000227532	Chromatin interaction
ENSG00000004866	Chromatin interaction
ENSG00000135269	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10487359	0.93[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs13227862	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13229745	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13246825	0.83[EUR][1000 genomes]
rs193562	0.81[EUR][1000 genomes]
rs34656305	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34791149	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs38874	0.81[EUR][1000 genomes]
rs38875	0.82[EUR][1000 genomes]
rs38879	0.83[EUR][1000 genomes]
rs55912105	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56680066	0.85[EUR][1000 genomes]
rs57745328	0.81[AMR][1000 genomes]
rs6976661	0.80[EUR][1000 genomes]
rs71564582	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73211920	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73211938	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73211939	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73211943	0.93[EUR][1000 genomes]
rs7806551	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[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	nsv831108	chr7:116749534-116952011	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116776400-116830200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:116785200-116856600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:116787200-116830200	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr7:116787400-116834000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr7:116793400-116830600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr7:116795600-116830200	Weak transcription	Fetal Intestine Small	intestine
7	chr7:116796800-116829400	Weak transcription	Fetal Brain Male	brain
8	chr7:116798000-116829800	Weak transcription	Gastric	stomach
9	chr7:116798000-116850000	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr7:116798200-116866600	Weak transcription	HMEC	breast
11	chr7:116798400-116849800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr7:116798600-116830000	Weak transcription	Brain Angular Gyrus	brain
13	chr7:116800200-116830000	Weak transcription	Colon Smooth Muscle	Colon
14	chr7:116802400-116816400	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr7:116805200-116816000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr7:116805200-116830000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr7:116805200-116850000	Weak transcription	Psoas Muscle	Psoas
18	chr7:116805400-116826200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr7:116806600-116820600	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr7:116807600-116857800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr7:116808400-116871800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr7:116809800-116829600	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr7:116810200-116829400	Weak transcription	Brain Cingulate Gyrus	brain
24	chr7:116810200-116830200	Weak transcription	Spleen	Spleen
25	chr7:116810200-116832400	Weak transcription	A549	lung
26	chr7:116810200-116850000	Weak transcription	Brain Hippocampus Middle	brain
27	chr7:116810400-116826200	Weak transcription	NH-A	brain
28	chr7:116811000-116817400	Strong transcription	Liver	Liver
29	chr7:116811000-116817600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr7:116811000-116817600	Strong transcription	GM12878-XiMat	blood
31	chr7:116811200-116818000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr7:116811400-116816400	Strong transcription	Left Ventricle	heart
33	chr7:116811400-116829600	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr7:116811400-116830200	Weak transcription	Right Ventricle	heart
35	chr7:116811600-116818200	Weak transcription	HUVEC	blood vessel
36	chr7:116811600-116829600	Weak transcription	Ovary	ovary
37	chr7:116811600-116838400	Weak transcription	Pancreas	Pancrea
38	chr7:116811800-116828200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr7:116811800-116830200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr7:116811800-116833200	Weak transcription	NHDF-Ad	bronchial
41	chr7:116812000-116829400	Weak transcription	Placenta	Placenta
42	chr7:116812200-116829400	Weak transcription	Brain Substantia Nigra	brain
43	chr7:116812200-116830000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr7:116812200-116850000	Weak transcription	Hela-S3	cervix
45	chr7:116812400-116830000	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr7:116812400-116830800	Weak transcription	HSMM	muscle
47	chr7:116812600-116817600	Enhancers	Fetal Lung	lung
48	chr7:116812800-116829200	Weak transcription	Stomach Smooth Muscle	stomach
49	chr7:116813000-116826200	Weak transcription	Osteobl	bone
50	chr7:116813400-116829200	Weak transcription	Fetal Heart	heart

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