Variant report

Variant	rs3753358
Chromosome Location	chr1:47071365-47071366
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:47069463-47071390	GM18505	blood:	n/a	n/a
2	POLR2A	chr1:47071302-47071622	HepG2	liver:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:47069390..47072755-chr1:47079314..47082367,4	MCF-7	breast:
2	chr1:47041661..47043778-chr1:47070091..47072496,2	K562	blood:
3	chr1:47068429..47072503-chr1:47081068..47085092,4	MCF-7	breast:
4	chr1:47069986..47078443-chr1:47078833..47084050,15	K562	blood:
5	chr1:47066512..47069474-chr1:47070954..47073416,4	K562	blood:
6	chr1:47069954..47072526-chr1:47696601..47699407,3	K562	blood:

No data

Variant related genes	Relation type
MKNK1	TF binding region
ENSG00000142961	Chromatin interaction
ENSG00000079277	Chromatin interaction
ENSG00000162367	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11211305	0.84[ASN][1000 genomes]
rs12095096	0.84[ASN][1000 genomes]
rs12096548	0.84[ASN][1000 genomes]
rs2273935	0.90[AMR][1000 genomes]
rs28364800	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3737734	0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs3737735	0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs3766235	0.84[ASN][1000 genomes]
rs3766237	0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs3766238	0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs3766239	0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs3766242	0.81[AMR][1000 genomes]
rs3766244	0.90[AMR][1000 genomes]
rs55849859	0.90[AMR][1000 genomes]
rs56195429	0.90[AMR][1000 genomes]
rs56228418	0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs56939666	0.81[AMR][1000 genomes]
rs61734408	0.81[AMR][1000 genomes]
rs6703563	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001455	chr1:46828004-47326539	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv534950	chr1:46828004-47326539	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1009193	chr1:46939999-47085667	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv870392	chr1:47040676-47095097	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47070000-47077600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:47070000-47078800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:47070200-47073200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:47070400-47072000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:47070400-47073600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr1:47070400-47073600	Weak transcription	Brain Substantia Nigra	brain
7	chr1:47070400-47073800	Weak transcription	Brain Germinal Matrix	brain
8	chr1:47070400-47081200	Weak transcription	Fetal Brain Male	brain
9	chr1:47070600-47071400	Enhancers	Pancreas	Pancrea
10	chr1:47070600-47071400	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr1:47070600-47071600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
12	chr1:47070600-47071600	Weak transcription	Fetal Stomach	stomach
13	chr1:47070600-47071800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr1:47070600-47072000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr1:47070600-47072000	Weak transcription	Osteobl	bone
16	chr1:47070600-47072200	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr1:47070600-47072200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr1:47070600-47072600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:47070600-47073200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:47070600-47073200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:47070600-47073200	Weak transcription	Aorta	Aorta
22	chr1:47070600-47073200	Weak transcription	Brain Cingulate Gyrus	brain
23	chr1:47070600-47073200	Weak transcription	Brain Hippocampus Middle	brain
24	chr1:47070600-47073400	Weak transcription	Fetal Intestine Large	intestine
25	chr1:47070600-47073600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr1:47070600-47073600	Weak transcription	Esophagus	oesophagus
27	chr1:47070600-47073600	Weak transcription	Gastric	stomach
28	chr1:47070600-47073800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr1:47070600-47073800	Weak transcription	Primary B cells from peripheral blood	blood
30	chr1:47070600-47073800	Weak transcription	Fetal Lung	lung
31	chr1:47070600-47073800	Enhancers	Psoas Muscle	Psoas
32	chr1:47070600-47074000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr1:47070600-47074000	Weak transcription	Fetal Kidney	kidney
34	chr1:47070600-47074600	Weak transcription	HSMM	muscle
35	chr1:47070600-47077200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr1:47070600-47077400	Weak transcription	NH-A	brain
37	chr1:47070600-47077600	Weak transcription	Fetal Heart	heart
38	chr1:47070600-47078400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr1:47070800-47071600	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr1:47070800-47071800	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr1:47070800-47071800	Weak transcription	Stomach Smooth Muscle	stomach
42	chr1:47070800-47072000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr1:47070800-47072000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr1:47070800-47072000	Weak transcription	Fetal Intestine Small	intestine
45	chr1:47070800-47072200	Enhancers	Primary T cells from cord blood	blood
46	chr1:47070800-47072200	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr1:47070800-47072400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr1:47070800-47073000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr1:47070800-47073400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr1:47070800-47073400	Weak transcription	Colonic Mucosa	Colon

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