Variant report

Variant	rs73016810
Chromosome Location	chr2:174080581-174080582
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:174079336..174081370-chr2:174081399..174084609,3	MCF-7	breast:
2	chr2:174078605..174081527-chr2:174219510..174221831,2	K562	blood:

Variant related genes	Relation type
ENSG00000236391	Chromatin interaction
ENSG00000144354	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11888193	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11901996	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs35853276	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs57244347	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6433398	0.96[AFR][1000 genomes]
rs6725795	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73023632	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73033228	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73971697	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73974103	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9941608	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][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	nsv1011724	chr2:173916482-174231908	Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv834460	chr2:173919464-174085288	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:174026600-174083200	Weak transcription	Esophagus	oesophagus
2	chr2:174048600-174095200	Weak transcription	Thymus	Thymus
3	chr2:174049200-174083200	Weak transcription	Small Intestine	intestine
4	chr2:174053400-174082000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr2:174053400-174089800	Weak transcription	Pancreas	Pancrea
6	chr2:174058000-174112800	Weak transcription	Spleen	Spleen
7	chr2:174060200-174092600	Weak transcription	Aorta	Aorta
8	chr2:174061000-174082000	Weak transcription	Fetal Brain Female	brain
9	chr2:174061200-174097600	Weak transcription	Lung	lung
10	chr2:174061400-174092200	Weak transcription	Brain Substantia Nigra	brain
11	chr2:174061600-174083200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:174061600-174083200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:174063600-174097600	Weak transcription	HSMM	muscle
14	chr2:174063800-174081600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr2:174063800-174083200	Weak transcription	GM12878-XiMat	blood
16	chr2:174063800-174095000	Weak transcription	Right Ventricle	heart
17	chr2:174064200-174082800	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr2:174064200-174083000	Weak transcription	HepG2	liver
19	chr2:174064200-174083400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:174064200-174097600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr2:174064600-174082000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:174064600-174083200	Weak transcription	Primary hematopoietic stem cells	blood
23	chr2:174069400-174081800	Weak transcription	Ovary	ovary
24	chr2:174069400-174082200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:174069400-174097000	Weak transcription	Fetal Muscle Trunk	muscle
26	chr2:174069400-174097600	Weak transcription	Primary B cells from cord blood	blood
27	chr2:174069600-174096600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr2:174070000-174081800	Weak transcription	Fetal Brain Male	brain
29	chr2:174071800-174094200	Weak transcription	Fetal Thymus	thymus
30	chr2:174072200-174095400	Weak transcription	Right Atrium	heart
31	chr2:174075400-174082000	Weak transcription	NHLF	lung
32	chr2:174075400-174097600	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr2:174075600-174080800	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr2:174075600-174083000	Weak transcription	Fetal Kidney	kidney
35	chr2:174075800-174081600	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr2:174075800-174081600	Weak transcription	Fetal Lung	lung
37	chr2:174075800-174081800	Weak transcription	NH-A	brain
38	chr2:174075800-174082800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr2:174075800-174082800	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr2:174075800-174083000	Weak transcription	Adipose Nuclei	Adipose
41	chr2:174076000-174081800	Weak transcription	NHDF-Ad	bronchial
42	chr2:174076000-174083000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr2:174076200-174082800	Weak transcription	Fetal Heart	heart
44	chr2:174076400-174081800	Weak transcription	Psoas Muscle	Psoas
45	chr2:174076400-174082200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr2:174076400-174083200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr2:174076400-174083200	Weak transcription	Dnd41	blood
48	chr2:174076400-174087800	Weak transcription	K562	blood
49	chr2:174076800-174082000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr2:174076800-174085800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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