Variant report

Variant	rs60232103
Chromosome Location	chr2:74269554-74269555
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:74269549..74271740-chr2:74273522..74276997,3	MCF-7	breast:
2	chr2:74263154..74265649-chr2:74267103..74270206,3	MCF-7	breast:
3	chr2:74257577..74261263-chr2:74266569..74269691,3	K562	blood:
4	chr2:74257577..74259961-chr2:74268016..74269691,2	K562	blood:
5	chr2:74263852..74266331-chr2:74266668..74270220,4	K562	blood:

Variant related genes	Relation type
ENSG00000187605	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs56196018	1.00[AFR][1000 genomes]
rs56220427	1.00[AFR][1000 genomes]
rs56247747	1.00[AMR][1000 genomes]
rs57078518	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60800561	1.00[AFR][1000 genomes]
rs61190810	1.00[AFR][1000 genomes]
rs72816199	1.00[AFR][1000 genomes]
rs73948286	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73948287	1.00[AMR][1000 genomes]
rs73948289	1.00[AMR][1000 genomes]
rs73951129	1.00[AFR][1000 genomes]
rs73951131	1.00[AFR][1000 genomes]
rs73951132	1.00[AFR][1000 genomes]
rs73951133	1.00[AFR][1000 genomes]
rs73951134	1.00[AFR][1000 genomes]
rs73951135	1.00[AFR][1000 genomes]
rs73951136	1.00[AFR][1000 genomes]
rs73951137	0.81[AFR][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	esv3584956	chr2:74197109-74317135	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv818048	chr2:74225434-74313080	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74231600-74273800	Weak transcription	A549	lung
2	chr2:74240000-74276200	Weak transcription	Hela-S3	cervix
3	chr2:74256000-74269600	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr2:74259400-74269600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:74260000-74269800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:74260000-74269800	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr2:74260000-74269800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr2:74260000-74273200	Weak transcription	Brain Germinal Matrix	brain
9	chr2:74260200-74270400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:74260200-74271600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:74260200-74272600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:74260200-74273600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr2:74260400-74270200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr2:74260400-74271600	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr2:74260800-74270000	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr2:74260800-74278400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr2:74263000-74269800	Enhancers	Primary T cells from cord blood	blood
18	chr2:74263000-74270600	Enhancers	Placenta	Placenta
19	chr2:74264200-74269600	Weak transcription	Brain Cingulate Gyrus	brain
20	chr2:74264400-74270200	Weak transcription	Gastric	stomach
21	chr2:74264600-74269600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:74264600-74271400	Weak transcription	Brain Anterior Caudate	brain
23	chr2:74264600-74273800	Weak transcription	Colonic Mucosa	Colon
24	chr2:74264800-74272200	Weak transcription	NHEK	skin
25	chr2:74264800-74311000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr2:74265000-74270200	Weak transcription	Fetal Lung	lung
27	chr2:74265000-74272600	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr2:74265000-74272600	Weak transcription	Fetal Stomach	stomach
29	chr2:74265000-74272600	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr2:74265000-74272800	Weak transcription	Dnd41	blood
31	chr2:74265000-74300600	Weak transcription	Fetal Brain Male	brain
32	chr2:74265200-74273400	Weak transcription	Liver	Liver
33	chr2:74265200-74273400	Enhancers	K562	blood
34	chr2:74265200-74273600	Weak transcription	Stomach Smooth Muscle	stomach
35	chr2:74265400-74270000	Weak transcription	Brain Angular Gyrus	brain
36	chr2:74265400-74270200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr2:74265400-74271000	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr2:74265400-74272200	Weak transcription	HMEC	breast
39	chr2:74265400-74272600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:74265400-74272600	Weak transcription	Fetal Muscle Trunk	muscle
41	chr2:74265400-74273600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr2:74265400-74273800	Weak transcription	NHLF	lung
43	chr2:74265400-74275600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr2:74265400-74315000	Weak transcription	HUVEC	blood vessel
45	chr2:74265600-74269800	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr2:74265600-74271800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr2:74265600-74272400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr2:74265600-74272400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr2:74265600-74272600	Weak transcription	Esophagus	oesophagus
50	chr2:74265600-74273400	Weak transcription	Adipose Nuclei	Adipose

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