Variant report

Variant	rs73014649
Chromosome Location	chr1:165732337-165732338
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:165702257..165704580-chr1:165731133..165732717,2	K562	blood:
2	chr1:165731771..165733525-chr1:165736901..165738837,2	K562	blood:
3	chr1:165730777..165733334-chr1:165795438..165798730,3	K562	blood:
4	chr1:165727367..165730301-chr1:165730558..165733503,2	MCF-7	breast:
5	chr1:165730442..165735280-chr1:165736024..165740207,7	MCF-7	breast:

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

Extended variants
information (count: 22 )
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]
rs73014618	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:4 , 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
4	esv3392396	chr1:165730553-165732501	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 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	chr1:165711200-165736200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr1:165712200-165737000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:165712600-165737000	Weak transcription	Colonic Mucosa	Colon
6	chr1:165713400-165733600	Weak transcription	NHEK	skin
7	chr1:165713600-165737000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:165720800-165733400	Weak transcription	A549	lung
9	chr1:165721800-165732600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr1:165721800-165732600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr1:165721800-165732600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr1:165721800-165732800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr1:165721800-165732800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr1:165721800-165734800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr1:165721800-165734800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr1:165721800-165734800	Weak transcription	Esophagus	oesophagus
17	chr1:165721800-165735200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr1:165721800-165736600	Weak transcription	Stomach Mucosa	stomach
19	chr1:165721800-165737000	Weak transcription	Fetal Brain Male	brain
20	chr1:165721800-165737000	Weak transcription	Fetal Heart	heart
21	chr1:165721800-165737000	Weak transcription	Right Atrium	heart
22	chr1:165721800-165737200	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr1:165721800-165737600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:165722400-165732800	Weak transcription	HepG2	liver
25	chr1:165722400-165735000	Weak transcription	HSMMtube	muscle
26	chr1:165722600-165733400	Weak transcription	Brain Anterior Caudate	brain
27	chr1:165722600-165733600	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr1:165722600-165736800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:165722800-165734800	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr1:165723000-165736800	Weak transcription	Spleen	Spleen
31	chr1:165723200-165732800	Weak transcription	Pancreas	Pancrea
32	chr1:165723200-165736800	Weak transcription	Colon Smooth Muscle	Colon
33	chr1:165723400-165734800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr1:165723600-165732600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr1:165723600-165732800	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr1:165723600-165733600	Weak transcription	Brain Angular Gyrus	brain
37	chr1:165723600-165735600	Weak transcription	Brain Germinal Matrix	brain
38	chr1:165723800-165733400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr1:165723800-165733800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr1:165724000-165733800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr1:165724200-165732800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr1:165724200-165732800	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr1:165724200-165733600	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr1:165724200-165733600	Weak transcription	Brain Hippocampus Middle	brain
45	chr1:165724200-165733600	Weak transcription	HUVEC	blood vessel
46	chr1:165724800-165732600	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr1:165725000-165732800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr1:165725200-165733600	Weak transcription	Small Intestine	intestine
49	chr1:165725800-165732600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr1:165725800-165734200	Weak transcription	Brain Inferior Temporal Lobe	brain

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