Variant report

Variant	rs73177223
Chromosome Location	chr2:11497281-11497282
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:11493192..11494740-chr2:11496741..11499584,2	K562	blood:
2	chr2:11488042..11489928-chr2:11495896..11497893,2	K562	blood:
3	chr2:11483743..11487223-chr2:11496291..11499577,4	K562	blood:
4	chr2:11492972..11495915-chr2:11496036..11497554,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134318	Chromatin interaction

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

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

rs_ID	r²[population]
rs10170599	1.00[EUR][1000 genomes]
rs13410951	1.00[EUR][1000 genomes]
rs16857295	1.00[EUR][1000 genomes]
rs56953480	1.00[EUR][1000 genomes]
rs58092863	1.00[EUR][1000 genomes]
rs61646530	1.00[EUR][1000 genomes]
rs66554543	0.85[AFR][1000 genomes]
rs66668184	0.97[AFR][1000 genomes]
rs67998492	0.97[AFR][1000 genomes]
rs68106030	1.00[AFR][1000 genomes]
rs73175663	1.00[EUR][1000 genomes]
rs73175666	1.00[EUR][1000 genomes]
rs73175691	1.00[EUR][1000 genomes]
rs73177207	1.00[EUR][1000 genomes]
rs73177213	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73177217	1.00[AFR][1000 genomes];1.00[AMR][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	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11485800-11497400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:11485800-11497400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:11492600-11500600	Enhancers	Fetal Intestine Large	intestine
4	chr2:11493600-11497400	Weak transcription	Liver	Liver
5	chr2:11494600-11498200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:11494600-11498200	Enhancers	Spleen	Spleen
7	chr2:11494600-11498400	Enhancers	Fetal Intestine Small	intestine
8	chr2:11494800-11498800	Enhancers	Fetal Muscle Leg	muscle
9	chr2:11494800-11498800	Enhancers	Placenta	Placenta
10	chr2:11495200-11497400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr2:11495400-11498000	Enhancers	Fetal Muscle Trunk	muscle
12	chr2:11495400-11498200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:11495400-11499600	Weak transcription	Stomach Mucosa	stomach
14	chr2:11495600-11498000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr2:11495600-11498200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:11495600-11500000	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr2:11495800-11498200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr2:11496200-11497600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr2:11496200-11497600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:11496400-11497600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr2:11496600-11498000	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr2:11496600-11498200	Enhancers	Fetal Lung	lung
23	chr2:11496600-11498800	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr2:11496800-11498000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:11496800-11498000	Enhancers	Left Ventricle	heart
26	chr2:11496800-11498200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:11496800-11498200	Enhancers	Lung	lung
28	chr2:11496800-11498200	Enhancers	Psoas Muscle	Psoas
29	chr2:11496800-11498400	Enhancers	Adipose Nuclei	Adipose
30	chr2:11497000-11497400	Enhancers	Primary hematopoietic stem cells	blood
31	chr2:11497000-11497600	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr2:11497000-11497600	Transcr. at gene 5' and 3'	HepG2	liver
33	chr2:11497000-11497800	Enhancers	NHLF	lung
34	chr2:11497000-11498200	Enhancers	Right Ventricle	heart
35	chr2:11497000-11498200	Enhancers	Small Intestine	intestine
36	chr2:11497000-11498200	Enhancers	HSMMtube	muscle
37	chr2:11497200-11498000	Enhancers	Fetal Heart	heart

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