Variant report

Variant	rs16870066
Chromosome Location	chr7:116831503-116831504
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:116831492-116831533	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	7:115861595-115870968..7:116829381-116834492	GM12878	blood:
2	chr7:116823583..116828705-chr7:116829904..116832528,5	K562	blood:

Variant related genes	Relation type
ENSG00000227532	TF binding region
ENSG00000227532	Chromatin interaction
ENSG00000135269	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12534542	0.83[YRI][hapmap]
rs12535380	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs12536184	0.85[YRI][hapmap]
rs12536291	1.00[YRI][hapmap]
rs17139519	1.00[YRI][hapmap]
rs6957837	1.00[YRI][hapmap]
rs7785752	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv5916	chr7:116825221-116870570	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116785200-116856600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:116787400-116834000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr7:116798000-116850000	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr7:116798200-116866600	Weak transcription	HMEC	breast
5	chr7:116798400-116849800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr7:116805200-116850000	Weak transcription	Psoas Muscle	Psoas
7	chr7:116807600-116857800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr7:116808400-116871800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr7:116810200-116832400	Weak transcription	A549	lung
10	chr7:116810200-116850000	Weak transcription	Brain Hippocampus Middle	brain
11	chr7:116811600-116838400	Weak transcription	Pancreas	Pancrea
12	chr7:116811800-116833200	Weak transcription	NHDF-Ad	bronchial
13	chr7:116812200-116850000	Weak transcription	Hela-S3	cervix
14	chr7:116815800-116839000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr7:116817600-116849000	Weak transcription	Fetal Lung	lung
16	chr7:116821400-116833400	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr7:116824200-116867200	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr7:116825400-116859600	Weak transcription	Brain Anterior Caudate	brain
19	chr7:116827600-116833400	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr7:116827800-116859000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr7:116828800-116834400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr7:116828800-116865400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr7:116829200-116832000	Strong transcription	K562	blood
24	chr7:116829200-116832200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr7:116829200-116840600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr7:116829400-116832000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:116829400-116832200	Strong transcription	Placenta	Placenta
28	chr7:116829400-116833200	Strong transcription	GM12878-XiMat	blood
29	chr7:116829400-116835400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr7:116829400-116836200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr7:116829600-116831800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr7:116829600-116832000	Strong transcription	Brain Inferior Temporal Lobe	brain
33	chr7:116829600-116832000	Strong transcription	HUVEC	blood vessel
34	chr7:116829600-116832200	Enhancers	Placenta Amnion	Placenta Amnion
35	chr7:116829800-116832200	Strong transcription	Fetal Brain Female	brain
36	chr7:116830400-116838600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr7:116830400-116849800	Weak transcription	Fetal Brain Male	brain
38	chr7:116830600-116832000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr7:116830600-116834600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr7:116830600-116853000	Weak transcription	NH-A	brain
41	chr7:116830800-116832400	Enhancers	NHLF	lung
42	chr7:116830800-116832800	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr7:116830800-116834000	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr7:116830800-116837800	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr7:116830800-116849800	Weak transcription	Brain Substantia Nigra	brain
46	chr7:116830800-116850200	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr7:116830800-116859400	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr7:116830800-116859600	Weak transcription	Gastric	stomach
49	chr7:116831000-116832200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr7:116831000-116838200	Weak transcription	Aorta	Aorta

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