Variant report

Variant	rs2270075
Chromosome Location	chr19:44132306-44132307
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:44131994..44133560-chr19:44140459..44143451,2	MCF-7	breast:
2	chr19:44131324..44133341-chr19:44135623..44138408,2	K562	blood:
3	chr19:44078931..44081350-chr19:44131876..44133475,2	K562	blood:

Variant related genes	Relation type
ENSG00000234465	Chromatin interaction
ENSG00000073050	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10402946	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13343696	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17655646	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs304719	0.87[AFR][1000 genomes]
rs304720	0.88[AFR][1000 genomes]
rs304722	0.89[AFR][1000 genomes]
rs304723	0.89[AFR][1000 genomes]
rs304726	0.87[AFR][1000 genomes]
rs34163641	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34521657	0.93[AFR][1000 genomes]
rs34637472	0.93[AFR][1000 genomes]
rs365063	0.90[AFR][1000 genomes]
rs3803910	0.93[AFR][1000 genomes]
rs427115	0.87[AFR][1000 genomes]
rs4803646	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7251275	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532821	chr19:43842383-44357315	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv833839	chr19:44099813-44272299	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44124600-44143400	Weak transcription	Right Atrium	heart
2	chr19:44124800-44138400	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr19:44124800-44138800	Weak transcription	Rectal Smooth Muscle	rectum
4	chr19:44124800-44139000	Weak transcription	Colon Smooth Muscle	Colon
5	chr19:44125000-44139200	Weak transcription	Pancreas	Pancrea
6	chr19:44125200-44133000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr19:44125200-44137400	Weak transcription	HepG2	liver
8	chr19:44125600-44133200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr19:44125800-44135400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr19:44126000-44133400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr19:44126600-44134000	Strong transcription	Brain Germinal Matrix	brain
12	chr19:44128600-44138800	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr19:44129000-44138400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr19:44129200-44138200	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr19:44130800-44138400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr19:44131000-44138800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr19:44131200-44138200	Weak transcription	Esophagus	oesophagus
18	chr19:44131200-44139400	Weak transcription	Spleen	Spleen
19	chr19:44131400-44133600	Enhancers	Brain Cingulate Gyrus	brain
20	chr19:44131400-44133600	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr19:44131400-44133800	Enhancers	Brain Hippocampus Middle	brain
22	chr19:44131400-44137000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr19:44131400-44138400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr19:44131400-44138400	Weak transcription	Fetal Stomach	stomach
25	chr19:44131400-44138800	Weak transcription	Fetal Intestine Small	intestine
26	chr19:44131600-44138200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr19:44131600-44138400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr19:44131800-44132600	Weak transcription	Brain Anterior Caudate	brain
29	chr19:44131800-44132600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr19:44131800-44135000	Enhancers	Brain Substantia Nigra	brain
31	chr19:44131800-44138800	Weak transcription	Stomach Smooth Muscle	stomach
32	chr19:44131800-44139000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr19:44132000-44133600	Enhancers	Brain Angular Gyrus	brain
34	chr19:44132000-44134800	Weak transcription	Fetal Brain Female	brain
35	chr19:44132000-44136200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr19:44132000-44137600	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr19:44132000-44138400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr19:44132000-44138800	Weak transcription	K562	blood

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