Variant report

Variant	rs57016147
Chromosome Location	chr7:102981904-102981905
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:102956533..102959951-chr7:102978217..102982199,5	K562	blood:
2	chr7:102949416..102952354-chr7:102981636..102984074,3	K562	blood:
3	chr7:102963743..102965327-chr7:102981901..102984611,2	K562	blood:

Variant related genes	Relation type
ENSG00000105819	Chromatin interaction
ENSG00000105821	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs3757507	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868996	chr7:102332827-102991361	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv1030446	chr7:102932689-103221638	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv491911	chr7:102967150-103403622	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102938600-102984200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:102939800-102984000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:102939800-102984200	Weak transcription	Stomach Mucosa	stomach
4	chr7:102940000-102983000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr7:102948800-102982600	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr7:102952000-102983800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr7:102954600-102984000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr7:102960400-102984200	Weak transcription	Spleen	Spleen
9	chr7:102962400-102984200	Weak transcription	Aorta	Aorta
10	chr7:102970800-102982800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr7:102971200-102983000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:102971400-102982400	Strong transcription	Primary B cells from peripheral blood	blood
13	chr7:102971400-102982800	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr7:102971400-102983000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr7:102971600-102982400	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr7:102971600-102982600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr7:102971800-102982400	Strong transcription	Placenta	Placenta
18	chr7:102971800-102982600	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr7:102972600-102982800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr7:102972800-102982400	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr7:102973000-102982200	Strong transcription	Fetal Muscle Trunk	muscle
22	chr7:102973000-102982400	Strong transcription	Fetal Muscle Leg	muscle
23	chr7:102973000-102982600	Strong transcription	Fetal Intestine Large	intestine
24	chr7:102973000-102983000	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr7:102973200-102982200	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr7:102973200-102982400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr7:102973200-102982400	Strong transcription	Fetal Thymus	thymus
28	chr7:102973200-102982600	Strong transcription	Primary T cells from cord blood	blood
29	chr7:102973400-102982200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr7:102973400-102982400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr7:102973400-102982600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr7:102973400-102982800	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr7:102973800-102982400	Strong transcription	A549	lung
34	chr7:102974000-102982600	Strong transcription	H1 Cell Line	embryonic stem cell
35	chr7:102974000-102982600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr7:102974600-102982400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr7:102974600-102982600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
38	chr7:102975400-102982800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr7:102975800-102982200	Strong transcription	Muscle Satellite Cultured Cells	--
40	chr7:102976000-102982000	Strong transcription	Ovary	ovary
41	chr7:102976000-102982200	Strong transcription	Brain Hippocampus Middle	brain
42	chr7:102976400-102982000	Strong transcription	Sigmoid Colon	Sigmoid Colon
43	chr7:102976400-102982200	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr7:102976600-102982400	Strong transcription	Placenta Amnion	Placenta Amnion
45	chr7:102976800-102982600	Strong transcription	Skeletal Muscle Female	skeletal muscle
46	chr7:102976800-102982800	Strong transcription	Hela-S3	cervix
47	chr7:102977000-102982200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr7:102977000-102982200	Strong transcription	Primary B cells from cord blood	blood
49	chr7:102977000-102982200	Strong transcription	NH-A	brain
50	chr7:102977000-102982400	Strong transcription	H9 Cell Line	embryonic stem cell

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