Variant report

Variant	rs73004072
Chromosome Location	chr2:152267061-152267062
allele	A/G
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:152144813..152149803-chr2:152261382..152268379,11	K562	blood:
2	chr2:152262551..152270893-chr2:152273971..152280003,13	K562	blood:
3	chr2:152145011..152148288-chr2:152265460..152267609,4	MCF-7	breast:
4	chr2:152116678..152120470-chr2:152265032..152268454,8	MCF-7	breast:
5	chr2:152116022..152119511-chr2:152263980..152267786,5	K562	blood:
6	chr2:152143136..152144934-chr2:152266709..152268489,3	K562	blood:
7	chr2:152116994..152118893-chr2:152266218..152268136,2	MCF-7	breast:
8	chr2:152144798..152147073-chr2:152265350..152268359,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000080345	Chromatin interaction
ENSG00000123609	Chromatin interaction
ENSG00000184898	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10204541	0.81[AFR][1000 genomes]
rs11898318	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12467250	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs60267285	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6743034	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73004067	0.95[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs73004070	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693426	chr2:151725792-152295862	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS 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	27 gene(s)	inside rSNPs	diseases
2	nsv1012891	chr2:152019809-152306897	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv1013484	chr2:152028515-152473913	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv535983	chr2:152028515-152473913	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv1012139	chr2:152114637-152389516	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv1011339	chr2:152114637-152392940	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv999748	chr2:152135514-152476396	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
8	nsv834418	chr2:152205803-152385516	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152264800-152268000	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr2:152265000-152268600	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr2:152265400-152267800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr2:152265600-152268200	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr2:152265800-152267400	Active TSS	Stomach Smooth Muscle	stomach
6	chr2:152265800-152267600	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr2:152266000-152267200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:152266000-152267200	Active TSS	Primary T cells from cord blood	blood
9	chr2:152266000-152267200	Active TSS	Primary hematopoietic stem cells	blood
10	chr2:152266000-152267200	Active TSS	Primary T helper cells fromperipheralblood	blood
11	chr2:152266000-152267200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:152266000-152267200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr2:152266000-152267200	Active TSS	Liver	Liver
14	chr2:152266000-152267200	Active TSS	Osteobl	bone
15	chr2:152266000-152267400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:152266000-152267400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:152266000-152267400	Active TSS	Primary T helper cells PMA-I stimulated	--
18	chr2:152266000-152267400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr2:152266000-152267400	Active TSS	Primary T killer memory cells from peripheral blood	blood
20	chr2:152266000-152267400	Active TSS	Cortex derived primary cultured neurospheres	brain
21	chr2:152266000-152267400	Active TSS	Brain Anterior Caudate	brain
22	chr2:152266000-152267400	Active TSS	Brain Hippocampus Middle	brain
23	chr2:152266000-152267400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr2:152266000-152267400	Active TSS	Brain Substantia Nigra	brain
25	chr2:152266000-152267400	Active TSS	Duodenum Mucosa	Duodenum
26	chr2:152266000-152267400	Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr2:152266000-152267400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
28	chr2:152266000-152267400	Active TSS	Fetal Heart	heart
29	chr2:152266000-152267400	Active TSS	Rectal Smooth Muscle	rectum
30	chr2:152266000-152267400	Active TSS	HUVEC	blood vessel
31	chr2:152266000-152267600	Active TSS	Brain Cingulate Gyrus	brain
32	chr2:152266000-152267600	Active TSS	Colonic Mucosa	Colon
33	chr2:152266000-152267600	Active TSS	Fetal Intestine Small	intestine
34	chr2:152266000-152267600	Active TSS	Fetal Lung	lung
35	chr2:152266000-152267600	Active TSS	Psoas Muscle	Psoas
36	chr2:152266000-152267600	Active TSS	Right Ventricle	heart
37	chr2:152266000-152267600	Active TSS	Thymus	Thymus
38	chr2:152266000-152267600	Active TSS	HSMMtube	muscle
39	chr2:152266000-152267600	Active TSS	NHEK	skin
40	chr2:152266000-152267800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:152266000-152267800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr2:152266000-152267800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr2:152266000-152267800	Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr2:152266000-152267800	Active TSS	Muscle Satellite Cultured Cells	--
45	chr2:152266000-152267800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr2:152266000-152267800	Active TSS	Brain Angular Gyrus	brain
47	chr2:152266000-152267800	Active TSS	Brain Germinal Matrix	brain
48	chr2:152266000-152267800	Active TSS	Fetal Kidney	kidney
49	chr2:152266000-152267800	Active TSS	Fetal Stomach	stomach
50	chr2:152266000-152267800	Active TSS	Hela-S3	cervix

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