Variant report

Variant	rs10918301
Chromosome Location	chr1:165843069-165843070
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:165738310..165740092-chr1:165841486..165844202,2	K562	blood:
2	chr1:165796108..165798590-chr1:165838890..165843210,4	K562	blood:
3	chr1:165796583..165799385-chr1:165840192..165844268,4	MCF-7	breast:
4	chr1:165840374..165842176-chr1:165842789..165845400,2	K562	blood:
5	chr1:165736698..165740092-chr1:165841486..165845302,4	K562	blood:
6	chr1:165842995..165844503-chr1:165845607..165847939,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000224358	Chromatin interaction
ENSG00000143179	Chromatin interaction
ENSG00000143183	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10494448	0.85[EUR][1000 genomes]
rs10800165	0.81[EUR][1000 genomes]
rs10918297	0.85[EUR][1000 genomes]
rs12080800	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12125493	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2225980	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3762365	0.80[EUR][1000 genomes]
rs3806333	0.81[EUR][1000 genomes]
rs4657486	0.84[EUR][1000 genomes]
rs7519919	0.81[EUR][1000 genomes]
rs7543127	0.80[EUR][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:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165828000-165847200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:165828000-165849200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr1:165828200-165843400	Weak transcription	NHEK	skin
4	chr1:165832400-165853400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr1:165832800-165852800	Weak transcription	Psoas Muscle	Psoas
6	chr1:165833000-165849000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:165833200-165851000	Weak transcription	Hela-S3	cervix
8	chr1:165835400-165845400	Weak transcription	Aorta	Aorta
9	chr1:165835400-165846600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:165836200-165849200	Weak transcription	Osteobl	bone
11	chr1:165839000-165844400	Weak transcription	Fetal Heart	heart
12	chr1:165840600-165843200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:165840800-165843400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:165840800-165843800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr1:165840800-165843800	Weak transcription	Duodenum Mucosa	Duodenum
16	chr1:165840800-165843800	Weak transcription	Fetal Intestine Small	intestine
17	chr1:165840800-165843800	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr1:165840800-165844000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:165840800-165844000	Weak transcription	Pancreas	Pancrea
20	chr1:165840800-165844400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr1:165840800-165844400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr1:165840800-165844600	Weak transcription	Liver	Liver
23	chr1:165840800-165844600	Weak transcription	Esophagus	oesophagus
24	chr1:165840800-165844600	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr1:165840800-165845000	Weak transcription	Colonic Mucosa	Colon
26	chr1:165840800-165851400	Weak transcription	Right Ventricle	heart
27	chr1:165840800-165851800	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr1:165841000-165843400	Weak transcription	Primary hematopoietic stem cells	blood
29	chr1:165841000-165844400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr1:165841000-165844400	Weak transcription	Primary B cells from peripheral blood	blood
31	chr1:165841000-165844400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr1:165841000-165844400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr1:165841000-165844400	Weak transcription	Left Ventricle	heart
34	chr1:165841000-165845200	Enhancers	Primary T cells from cord blood	blood
35	chr1:165841000-165847800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr1:165841000-165849000	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr1:165841000-165849000	Weak transcription	HSMMtube	muscle
38	chr1:165841000-165853400	Weak transcription	Gastric	stomach
39	chr1:165841200-165843400	Weak transcription	Stomach Mucosa	stomach
40	chr1:165841200-165844400	Weak transcription	HepG2	liver
41	chr1:165841400-165844400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr1:165841600-165843400	Weak transcription	Fetal Thymus	thymus
43	chr1:165841600-165844000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr1:165842000-165843400	ZNF genes & repeats	A549	lung
45	chr1:165842000-165843600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr1:165842200-165843400	Weak transcription	GM12878-XiMat	blood
47	chr1:165842200-165843800	Enhancers	Dnd41	blood
48	chr1:165842200-165844400	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr1:165842200-165844400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr1:165842200-165844400	Weak transcription	Primary T helper cells fromperipheralblood	blood

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