Variant report

Variant	rs74118937
Chromosome Location	chr1:165848925-165848926
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: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
1	chr1:165843122..165847161-chr1:165847770..165853662,6	K562	blood:
2	chr1:165796589..165799063-chr1:165848873..165851017,4	K562	blood:
3	chr1:165847598..165850540-chr1:165853656..165856352,3	K562	blood:
4	chr1:165845971..165849103-chr1:165855397..165857265,3	MCF-7	breast:
5	chr1:165847454..165850029-chr1:165851841..165853502,3	K562	blood:
6	chr1:165828614..165831006-chr1:165847927..165850420,2	K562	blood:
7	chr1:165796518..165799137-chr1:165848481..165850965,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000143183	Chromatin interaction
ENSG00000143179	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16855432	1.00[ASN][1000 genomes]
rs56759706	1.00[ASN][1000 genomes]
rs58675136	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59910558	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60415933	1.00[ASN][1000 genomes]
rs61024132	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6681589	1.00[EUR][1000 genomes];1.00[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	esv2756102	chr1:165652342-165877342	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	esv2755529	chr1:165813862-165858354	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv437246	chr1:165822891-165860813	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165828000-165849200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr1:165832400-165853400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr1:165832800-165852800	Weak transcription	Psoas Muscle	Psoas
4	chr1:165833000-165849000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:165833200-165851000	Weak transcription	Hela-S3	cervix
6	chr1:165836200-165849200	Weak transcription	Osteobl	bone
7	chr1:165840800-165851400	Weak transcription	Right Ventricle	heart
8	chr1:165840800-165851800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr1:165841000-165849000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr1:165841000-165849000	Weak transcription	HSMMtube	muscle
11	chr1:165841000-165853400	Weak transcription	Gastric	stomach
12	chr1:165843200-165851800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:165843200-165852400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr1:165843400-165852400	Weak transcription	NHLF	lung
15	chr1:165843600-165851200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr1:165843800-165849800	Genic enhancers	Dnd41	blood
17	chr1:165844800-165851200	Weak transcription	Left Ventricle	heart
18	chr1:165844800-165852400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr1:165844800-165852400	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr1:165845000-165849400	Weak transcription	Brain Anterior Caudate	brain
21	chr1:165845200-165849600	Weak transcription	Pancreas	Pancrea
22	chr1:165845200-165860000	Weak transcription	Fetal Thymus	thymus
23	chr1:165845400-165850600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr1:165845400-165851800	Weak transcription	NHEK	skin
25	chr1:165845600-165851800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:165845600-165854000	Weak transcription	Fetal Intestine Large	intestine
27	chr1:165845600-165854000	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr1:165845600-165861600	Weak transcription	Thymus	Thymus
29	chr1:165846000-165849200	Weak transcription	HepG2	liver
30	chr1:165846200-165849000	Weak transcription	Liver	Liver
31	chr1:165846200-165849000	Weak transcription	Stomach Mucosa	stomach
32	chr1:165846400-165853600	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr1:165846800-165850600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr1:165847000-165852400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr1:165847000-165852800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr1:165847000-165853200	Weak transcription	Duodenum Mucosa	Duodenum
37	chr1:165847000-165856200	Weak transcription	K562	blood
38	chr1:165847000-165859800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr1:165847200-165851800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr1:165847200-165852800	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr1:165847200-165853200	Weak transcription	Fetal Muscle Leg	muscle
42	chr1:165847400-165852400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr1:165847400-165853000	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr1:165847400-165853600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr1:165847400-165859800	Weak transcription	NHDF-Ad	bronchial
46	chr1:165847600-165849400	Weak transcription	Brain Germinal Matrix	brain
47	chr1:165847600-165852400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr1:165847800-165853000	Weak transcription	Small Intestine	intestine
49	chr1:165847800-165854200	Weak transcription	Primary B cells from peripheral blood	blood
50	chr1:165848000-165851600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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