Variant report

Variant	rs73029465
Chromosome Location	chr1:165820383-165820384
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:165819266..165822080-chr1:165829077..165831771,2	MCF-7	breast:
2	chr1:165795645..165798284-chr1:165816849..165821681,5	MCF-7	breast:
3	chr1:165818712..165822734-chr1:165823086..165826851,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143179	Chromatin interaction
ENSG00000143183	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

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]
rs60095346	1.00[EUR][1000 genomes]
rs61125729	1.00[EUR][1000 genomes]
rs6658134	1.00[EUR][1000 genomes]
rs73014618	1.00[EUR][1000 genomes]
rs73014649	1.00[EUR][1000 genomes]
rs73029460	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73029467	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7528944	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	esv2830094	chr1:165785503-165840411	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	31 gene(s)	inside rSNPs	diseases
3	nsv548097	chr1:165797966-165825166	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
4	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

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165812200-165823200	Weak transcription	Aorta	Aorta
2	chr1:165812200-165823200	Weak transcription	Fetal Stomach	stomach
3	chr1:165812200-165823400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:165812400-165820400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr1:165812400-165820400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr1:165812400-165821800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr1:165812400-165822200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr1:165812400-165823200	Weak transcription	Left Ventricle	heart
9	chr1:165812400-165823200	Weak transcription	Right Ventricle	heart
10	chr1:165812400-165823200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr1:165812600-165820400	Weak transcription	Fetal Heart	heart
12	chr1:165812600-165821800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr1:165813000-165821800	Weak transcription	NHLF	lung
14	chr1:165813000-165823200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr1:165813800-165821800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr1:165814000-165822000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:165814000-165823200	Weak transcription	Small Intestine	intestine
18	chr1:165814200-165820400	Weak transcription	Duodenum Mucosa	Duodenum
19	chr1:165814400-165821800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr1:165814600-165820400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr1:165816200-165825000	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr1:165817600-165823800	Enhancers	Fetal Thymus	thymus
23	chr1:165818000-165821800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr1:165818000-165829200	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr1:165818200-165820400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr1:165818200-165820600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr1:165818400-165821200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr1:165818400-165821400	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr1:165818400-165821400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:165818400-165823800	Enhancers	Thymus	Thymus
31	chr1:165818600-165823200	Weak transcription	Fetal Muscle Leg	muscle
32	chr1:165818600-165828000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr1:165818800-165823400	Weak transcription	Right Atrium	heart
34	chr1:165818800-165824800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr1:165818800-165826600	Weak transcription	Esophagus	oesophagus
36	chr1:165819000-165822000	Weak transcription	HepG2	liver
37	chr1:165819000-165823200	Weak transcription	Adipose Nuclei	Adipose
38	chr1:165819000-165826000	Weak transcription	Brain Hippocampus Middle	brain
39	chr1:165819000-165826200	Weak transcription	Stomach Mucosa	stomach
40	chr1:165819200-165823000	Weak transcription	Hela-S3	cervix
41	chr1:165819200-165824600	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr1:165819200-165824800	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr1:165819400-165821400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr1:165819400-165821600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr1:165819400-165822400	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr1:165819600-165821000	Enhancers	Primary B cells from peripheral blood	blood
47	chr1:165819600-165824400	Enhancers	HMEC	breast
48	chr1:165819800-165821000	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr1:165820000-165821200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr1:165820200-165820400	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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