Variant report

Variant	rs73014618
Chromosome Location	chr1:165723967-165723968
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:165719684..165722558-chr1:165723344..165727845,5	K562	blood:
2	chr1:165720854..165729861-chr1:165736355..165740477,8	K562	blood:
3	chr1:165722333..165726093-chr1:165736872..165739220,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000224358	Chromatin interaction
ENSG00000143183	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs16848958	1.00[EUR][1000 genomes]
rs16849238	1.00[EUR][1000 genomes]
rs2348731	1.00[EUR][1000 genomes]
rs56946978	1.00[EUR][1000 genomes]
rs58365780	1.00[EUR][1000 genomes]
rs60095346	1.00[EUR][1000 genomes]
rs60308920	1.00[EUR][1000 genomes]
rs61125729	1.00[EUR][1000 genomes]
rs6658134	1.00[EUR][1000 genomes]
rs73014649	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73027023	1.00[EUR][1000 genomes]
rs73027060	1.00[EUR][1000 genomes]
rs73028710	1.00[EUR][1000 genomes]
rs73029460	1.00[EUR][1000 genomes]
rs73029465	1.00[EUR][1000 genomes]
rs73029467	1.00[EUR][1000 genomes]
rs7528944	1.00[EUR][1000 genomes]
rs9333396	1.00[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	nsv1011720	chr1:165669589-165802516	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv518886	chr1:165714187-165741646	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165687600-165737600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:165694600-165736800	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr1:165705000-165724800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr1:165710400-165727000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:165711200-165736200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr1:165712200-165737000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:165712400-165726800	Weak transcription	Fetal Lung	lung
8	chr1:165712400-165727000	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr1:165712400-165727200	Weak transcription	HMEC	breast
10	chr1:165712600-165737000	Weak transcription	Colonic Mucosa	Colon
11	chr1:165713400-165733600	Weak transcription	NHEK	skin
12	chr1:165713600-165737000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:165716800-165728000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr1:165717000-165724000	Strong transcription	Osteobl	bone
15	chr1:165717400-165724200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:165717400-165728000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:165718000-165725800	Weak transcription	HSMM	muscle
18	chr1:165718400-165725000	Weak transcription	Primary B cells from cord blood	blood
19	chr1:165718800-165725600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr1:165719600-165725000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:165720000-165725600	Strong transcription	Dnd41	blood
22	chr1:165720200-165725600	Strong transcription	Stomach Smooth Muscle	stomach
23	chr1:165720800-165733400	Weak transcription	A549	lung
24	chr1:165721400-165725000	Strong transcription	NHLF	lung
25	chr1:165721800-165724000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
26	chr1:165721800-165724000	Weak transcription	Primary T cells from cord blood	blood
27	chr1:165721800-165724000	Strong transcription	Placenta	Placenta
28	chr1:165721800-165724200	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr1:165721800-165724200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr1:165721800-165724200	Strong transcription	Liver	Liver
31	chr1:165721800-165724200	Strong transcription	Brain Hippocampus Middle	brain
32	chr1:165721800-165724200	Strong transcription	Duodenum Mucosa	Duodenum
33	chr1:165721800-165724200	Strong transcription	Fetal Thymus	thymus
34	chr1:165721800-165724200	Strong transcription	Hela-S3	cervix
35	chr1:165721800-165724400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr1:165721800-165724600	Weak transcription	Left Ventricle	heart
37	chr1:165721800-165724600	Weak transcription	Psoas Muscle	Psoas
38	chr1:165721800-165724800	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr1:165721800-165724800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr1:165721800-165724800	Strong transcription	Adipose Nuclei	Adipose
41	chr1:165721800-165724800	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr1:165721800-165725000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr1:165721800-165725000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr1:165721800-165725200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr1:165721800-165725200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr1:165721800-165725200	Strong transcription	Fetal Intestine Small	intestine
47	chr1:165721800-165725600	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr1:165721800-165725800	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr1:165721800-165726200	Weak transcription	Fetal Muscle Leg	muscle
50	chr1:165721800-165726800	Weak transcription	Aorta	Aorta

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